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Male infertility

MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
Synonyms: Infertility, Male; Male Infertility
SNOMED CT: Male infertility (2904007)
 
HPO: HP:0003251
Monarch Initiative: MONDO:0005372

Definition

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. [from MONDO]

Term Hierarchy

Conditions with this feature

Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
Spermatogenic failure 4
MedGen UID:
68568
Concept ID:
C0232981
Pathologic Function
Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., 277180) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., 415000) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). Recurrent Pregnancy Loss Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006). Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008). For a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 (614389).
Oligosynaptic infertility
MedGen UID:
140793
Concept ID:
C0403810
Disease or Syndrome
Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by Luetjens et al., 2004). Genetic Heterogeneity of Spermatogenic Failure See SPGF2 (108420), caused by mutation in the MSH4 gene (602105) on chromosome 1p31; SPGF3 (606766), caused by mutation in the SLC26A8 gene (608480) on chromosome 6p21; SPGF4 (270960), caused by mutation in the SYCP3 gene (604759) on chromosome 12q23; SPGF5 (243060), caused by mutation in the AURKC gene (603495) on chromosome 19q13; SPGF6 (102530), caused by mutation in the SPATA16 gene (609856) on chromosome 3q26; SPGF7 (612997), caused by mutation in the CATSPER gene (606389) on chromosome 11q13; SPGF8 (613957), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; SPGF9 (613958), caused by mutation in the DPY19L2 gene (613893) on chromosome 12q14; SPGF10 (614822), caused by mutation in the SEPT12 gene (611562) on chromosome 16p13; SPGF11 (615081), caused by mutation in the KLHL10 gene (608778) on chromosome 17p21; SPGF12 (615413), caused by mutation in the NANOS1 gene (608226) on chromosome 10q26; SPGF13 (615841), caused by mutation in the TAF4B gene (601689) on chromosome 18q11; SPGF14 (615842), caused by mutation in the ZMYND15 gene (614312) on chromosome 17p13; SPGF15 (616950), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; SPGF16 (617187), caused by mutation in the SUN5 gene (613942) on chromosome 20q11; SPGF17 (617214), caused by mutation in the PLCZ1 gene (608075) on chromosome 12p12; SPGF18 (617576), caused by mutation in the DNAH1 gene (603332) on chromosome 3p21; SPGF19 (617592), caused by mutation in the CFAP43 gene (617558) on chromosome 10q25; SPGF20 (617593), caused by mutation in the CFAP44 gene (617559) on chromosome 3q13; SPGF21 (617644), caused by mutation in the BRDT gene (602144) on chromosome 1p22; SPGF22 (617706), caused by mutation in the MEIOB gene (617670) on chromosome 16p13; SPGF23 (617707), caused by mutation in the TEX14 gene (605792) on chromosome 17q22; SPGF24 (617959), caused by mutation in the CFAP69 gene (617949) on chromosome 7q21; SPGF25 (617960), caused by mutation in the TEX15 gene (605795) on chromosome 8p12; SPGF26 (617961), caused by mutation in the TSGA10 gene (607166) on chromosome 2q11; SPGF27 (617965), caused by mutation in the AK7 gene (615364) on chromosome 14q32; SPGF28 (618086), caused by mutation in the FANCM gene (609644) on chromosome 14q21; SPGF29 (618091), caused by mutation in the SPINK2 gene (605753) on chromosome 4q12; SPGF30 (618110), caused by mutation in the TDRD9 gene (617963) on chromosome 14q32; SPGF31 (618112), caused by mutation in the PMFBP1 gene (618085) on chromosome 16q22; SPGF32 (618115), caused by mutation in the SOHLH1 gene (610224) on chromosome 9q34; SPGF33 (618152), caused by mutation in the WDR66 gene (618146) on chromosome 12q24; SPGF34 (618153), caused by mutation in the FSIP2 gene (615796) on chromosome 2q32; SPGF35, caused by mutation in the QRICH2 gene (618304) on chromosome 17q25; SPGF36 (618420), caused by mutation in the PPP2R3C gene (615902) on chromosome 14q13; SPGF37 (618429), caused by mutation in the TTC21A gene (611430) on chromosome 3p22; SPGF38 (618433), caused by mutation in the ARMC2 gene (618424) on chromosome 6q21; SPGF39 (618643), caused by mutation in the DNAH17 gene (610063) on chromosome 17q25; SPGF40 (618664), caused by mutation in the CFAP65 gene (614270) on chromosome 2q35; SPGF41 (618670), caused by mutation in the CFAP70 gene (618661) on chromosome 10q22; SPGF42 (618745), caused by mutation in the TTC29 gene (618735) on chromosome 4q31; SPGF43 (618751), caused by mutation in the SPEF2 gene (610172) on chromosome 5p13; SPGF44 (619044), caused by mutation in the CEP112 gene (618980) on chromosome 17q24; SPGF45 (619094), caused by mutation in the DNAH2 gene (603333) on chromosome 17p13; SPGF46 (619095), caused by mutation in the DNAH8 gene (603337) on chromosome 6p21; SPGF47 (619102), caused by mutation in the DZIP1 gene (608671) on chromosome 13q32; SPGF48 (619108), caused by mutation in the M1AP gene (619098) on chromosome 2p13; SPGF49 (619144), caused by mutation in the CFAP58 gene (619129) on chromosome 10q25; SPGF50 (619145), caused by mutation in the XRCC2 gene (600375) on chromosome 7q36; SPGF51 (619177), caused by mutation in the CFAP91 gene (609910) on chromosome 3q13; SPGF52 (619202), caused by mutation in the C14ORF39 gene (617307) on chromosome 14q23; SPGF53 (619258), caused by mutation in the ACTL9 gene (619251) on chromosome 19p13; SPGF54 (619379), caused by mutation in the CATIP gene (619387) on chromosome 2q35; SPGF55 (619380), caused by mutation in the SPAG17 gene (616554) on chromosome 1p12; SPGF56 (619515), caused by mutation in the DNAH10 gene (605884) on chromosome 12q24; SPGF57 (619528), caused by mutation in the PNLDC1 gene (619529) on chromosome 6q25; SPGF58 (619585), caused by mutation in the IFT74 gene (608040) on chromosome 9p21; SPGF59 (619645), caused by mutation in the TERB2 gene (617131) on chromosome 15q21; SPGF60 (619646), caused by mutation in the TERB1 gene (617332) on chromosome 16q22; SPGF61 (619672), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; SPGF62 (619673), caused by mutation in the RNF212 gene (612041) on chromosome 4p16; SPGF63 (619689), caused by mutation in the RPL10L gene (619655) on chromosome 14q21; SPGF64 (619696), caused by mutation in the FBXO43 gene (609110) on chromosome 8q22; SPGF65 (619712), caused by mutation in the DNHD1 gene (617277) on chromosome 11p15; SPGF66 (619799), caused by mutation in the ZPBP gene (608498) on chromosome 7p12; SPGF67 (619803), caused by mutation in the CCDC62 gene (613481) on chromosome 12q24; SPGF68 (619805), caused by mutation in the C2CD6 gene (613481) on chromosome 2q33; SPGF69 (619826), caused by mutation in the GGN gene (609966) on chromosome 19q13; SPGF70 (619828), caused by mutation in the PDHA2 gene (179061) on chromosome 4q22; SPGF71 (619831), caused by mutation in the ZSWIM7 gene (614535) on chromosome 17p12; SPGF72 (619867), caused by mutation in the WDR19 gene (608151) on chromosome 4p14; SPGF73 (619878), caused by mutation in the MOV10L1 gene (605794) on chromosome 22q13; SPGF74 (619937), caused by mutation in the MSH5 gene (603382) on chromosome 6p21; SPGF75 (619949), caused by mutation in the SHOC1 gene (618038) on chromosome 9q31; SPGF76 (620084), caused by mutation in the CCDC34 gene (612324) on chromosome 11p14; SPGF77 (620103), caused by mutation in the FKBP6 gene (604839) on chromosome 7q11; SPGF78 (620170), caused by mutation in the IQCN gene (620160) on chromosome 19p13; SPGF79 (620196), caused by mutation in the KCNU1 gene (615215) on chromosome 8p11; SPGF80 (620222), caused by mutation in the DRC1 gene (615288) on chromosome 2p23; SPGF81 (620277), caused by mutation in the TEKT3 gene (612683) on chromosome 17p12; SPGF82 (620353), caused by mutation in the AKAP3 gene (604689) on chromosome 12p13; SPGF83 (620354), caused by mutation in the DNALI1 gene (602135) on chromosome 1p34; SPGF84 (620409), caused by mutation in the CFAP61 gene (620381) on chromosome 20p11; SPGF85 (620490), caused by mutation in
Infertility associated with multi-tailed spermatozoa and excessive DNA
MedGen UID:
98020
Concept ID:
C0403812
Disease or Syndrome
Spermatogenic failure-5 (SPGF5) is a form of male infertility associated with large-headed, multiflagellar, polyploid spermatozoa (Dieterich et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Congenital bilateral aplasia of vas deferens from CFTR mutation
MedGen UID:
98021
Concept ID:
C0403814
Congenital Abnormality
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
Globozoospermia
MedGen UID:
96048
Concept ID:
C0403825
Finding
Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Autosomal recessive nonsyndromic hearing loss 32
MedGen UID:
373370
Concept ID:
C1837608
Disease or Syndrome
DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018).
Spermatogenic failure, Y-linked, 2
MedGen UID:
326394
Concept ID:
C1839071
Disease or Syndrome
Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes.
Spermatogenic failure, X-linked, 2
MedGen UID:
374322
Concept ID:
C1839841
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.
Persistent Mullerian duct syndrome
MedGen UID:
342367
Concept ID:
C1849930
Anatomical Abnormality
The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991).
Spermatogenic failure 2
MedGen UID:
400056
Concept ID:
C1862459
Finding
Spermatogenic failure-2 (SPGF2) is characterized by male infertility due to azoospermia (Tang et al., 2020; Akbari et al., 2021). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Deafness-infertility syndrome
MedGen UID:
370197
Concept ID:
C1970187
Disease or Syndrome
CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss.
Primary ciliary dyskinesia 9
MedGen UID:
390990
Concept ID:
C2676235
Disease or Syndrome
Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). For a general description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).
Spermatogenic failure 7
MedGen UID:
414478
Concept ID:
C2751811
Disease or Syndrome
CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. Males with NSMI have infertility while females have no symptoms. Males with DIS have both infertility and hearing loss, while females have only hearing loss. Routine semen analysis typically identifies abnormalities in sperm number, morphology, and motility. Otologic examination and audiologic assessment can identify hearing loss.
Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Primary ciliary dyskinesia 14
MedGen UID:
462486
Concept ID:
C3151136
Disease or Syndrome
Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Spermatogenic failure 9
MedGen UID:
462757
Concept ID:
C3151407
Disease or Syndrome
Spermatogenic failure-9 (SPGF9) is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Fanconi anemia complementation group A
MedGen UID:
483333
Concept ID:
C3469521
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Primary ciliary dyskinesia 18
MedGen UID:
762331
Concept ID:
C3543825
Disease or Syndrome
Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012).
Primary ciliary dyskinesia 19
MedGen UID:
762332
Concept ID:
C3543826
Disease or Syndrome
Primary ciliary dyskinesia-19 (CILD19) is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Spermatogenic failure 10
MedGen UID:
766707
Concept ID:
C3553793
Disease or Syndrome
Spermatogenic failure-10 (SPGF10) is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 11
MedGen UID:
767367
Concept ID:
C3554453
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.
Spermatogenic failure 13
MedGen UID:
862886
Concept ID:
C4014449
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.
Spermatogenic failure 14
MedGen UID:
862891
Concept ID:
C4014454
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.
Spermatogenic failure 17
MedGen UID:
934633
Concept ID:
C4310666
Disease or Syndrome
Spermatogenic failure-17 (SPGF17) is characterized by male infertility due to acrosomal defects, causing oocyte activation deficiency resulting in total fertilization failure. Fertilization can be rescued by assisted oocyte activation (Escoffier et al., 2016; Dai et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 16
MedGen UID:
934641
Concept ID:
C4310674
Disease or Syndrome
Spermatogenic failure-16 (SPGF16) is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by Zhu et al., 2016). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Primary ciliary dyskinesia 34
MedGen UID:
934689
Concept ID:
C4310722
Disease or Syndrome
Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Spermatogenic failure 15
MedGen UID:
934746
Concept ID:
C4310779
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.
Vas deferens, congenital bilateral aplasia of, X-linked
MedGen UID:
934782
Concept ID:
C4310815
Disease or Syndrome
Congenital bilateral absence of the vas deferens (CBAVD) is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD (see 277180), mutations are identified in the CFTR gene (602421). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by Patat et al., 2016).
Ciliary dyskinesia, primary, 36, X-linked
MedGen UID:
1393107
Concept ID:
C4478372
Disease or Syndrome
CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Spermatogenic failure 18
MedGen UID:
1617309
Concept ID:
C4539783
Disease or Syndrome
Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 19
MedGen UID:
1614356
Concept ID:
C4539818
Disease or Syndrome
Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 20
MedGen UID:
1621256
Concept ID:
C4539824
Disease or Syndrome
Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 21
MedGen UID:
1617056
Concept ID:
C4539991
Disease or Syndrome
Spermatogenic failure-21 (SPGF21) is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 22
MedGen UID:
1618089
Concept ID:
C4540179
Disease or Syndrome
Spermatogenic failure-22 (SPGF22) is characterized by male infertility due to spermatocyte maturation arrest resulting in cryptozoospermia or azoospermia (Gershoni et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 23
MedGen UID:
1626589
Concept ID:
C4540185
Disease or Syndrome
Noonan syndrome 1
MedGen UID:
1638960
Concept ID:
C4551602
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Kartagener syndrome
MedGen UID:
1646059
Concept ID:
C4551906
Disease or Syndrome
Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the CCDC103 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the LRRC6 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the PIH1D3 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11. Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455. Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).
Spermatogenic failure, Y-linked, 1
MedGen UID:
1634798
Concept ID:
C4551960
Disease or Syndrome
Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (<1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes.
Spermatogenic failure 25
MedGen UID:
1646677
Concept ID:
C4693765
Disease or Syndrome
Spermatogenic failure-25 (SPGF25) is characterized by small testes and infertility, with severe oligozoospermia or azoospermia due to maturation arrest at the primary spermatocyte stage (Okutman et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 26
MedGen UID:
1644751
Concept ID:
C4693773
Disease or Syndrome
Spermatogenic failure-26 (SPGF26) is characterized by acephalic spermatozoa due to breakage that occurs in the midpiece of the sperm (Sha et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 27
MedGen UID:
1634748
Concept ID:
C4693784
Disease or Syndrome
Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018). For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 3
MedGen UID:
1648302
Concept ID:
C4721889
Disease or Syndrome
In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 28
MedGen UID:
1648494
Concept ID:
C4748117
Disease or Syndrome
Spermatogenic failure-28 (SPGF28) is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 29
MedGen UID:
1648499
Concept ID:
C4748142
Disease or Syndrome
Spermatogenic failure-29 (SPGF29) is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 30
MedGen UID:
1648394
Concept ID:
C4748224
Disease or Syndrome
Spermatogenic failure-30 (SPGF30) is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 31
MedGen UID:
1648419
Concept ID:
C4748234
Disease or Syndrome
SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 32
MedGen UID:
1648444
Concept ID:
C4748253
Disease or Syndrome
Spermatogenic failure-32 (SPGF32) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 33
MedGen UID:
1648473
Concept ID:
C4748395
Disease or Syndrome
Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present (Kherraf et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 34
MedGen UID:
1648297
Concept ID:
C4748403
Disease or Syndrome
Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 35
MedGen UID:
1679765
Concept ID:
C5193038
Disease or Syndrome
Spermatogenic failure-35 (SPGF35) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019).
Spermatogenic failure 36
MedGen UID:
1678385
Concept ID:
C5193086
Disease or Syndrome
Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019). For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 37
MedGen UID:
1677534
Concept ID:
C5193091
Disease or Syndrome
Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen (Liu et al., 2019). For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 38
MedGen UID:
1680356
Concept ID:
C5193095
Disease or Syndrome
Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella (Coutton et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 39
MedGen UID:
1684778
Concept ID:
C5231438
Disease or Syndrome
Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. In some patients, spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella. Abnormalities of the sperm head and midpiece have also been observed, and ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells. In other patients, sperm do not exhibit MMAF, and ultrastructural analysis shows that many flagella lack 1 or more of microtubule doublets (MTDs) 4 to 7 at the principal piece or end piece; however, ODAs are present at the remaining MTDs (Whitfield et al., 2019; Zhang et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 40
MedGen UID:
1684662
Concept ID:
C5231451
Disease or Syndrome
Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 41
MedGen UID:
1684739
Concept ID:
C5231455
Disease or Syndrome
Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities (Beurois et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 42
MedGen UID:
1684744
Concept ID:
C5231488
Disease or Syndrome
Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 43
MedGen UID:
1684830
Concept ID:
C5231490
Disease or Syndrome
Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Ciliary dyskinesia, primary, 45
MedGen UID:
1714988
Concept ID:
C5394104
Disease or Syndrome
Primary ciliary dyskinesia-45 (CILD45) is an autosomal recessive disorder characterized by recurrent sinopulmonary infections resulting from defective mucociliary clearance. Affected individuals have onset of symptoms in infancy or early childhood, and the repetitive nature of the disorder may result in bronchiectasis. Nasal nitric oxide may be decreased, but patients do not have situs abnormalities. Male patients have infertility due to immotile sperm (summary by Thomas et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Heterotaxy, visceral, 9, autosomal, with male infertility
MedGen UID:
1717772
Concept ID:
C5394551
Disease or Syndrome
Visceral heterotaxy-9 (HTX9) is an autosomal recessive disorder characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia. Affected males are infertile mainly due to defective sperm motility, whereas affected females do not appear to have fertility problems. The disorder results from impaired function of the embryonic nodal cilia and sperm flagella. However, patients do not have classic respiratory symptoms of primary ciliary dyskinesia (see, e.g., CILD; 244400). The phenotype is highly variable; some affected individuals may be identified incidentally (summary by Ta-Shma et al., 2018 and Leslie et al., 2020). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Spermatogenic failure 44
MedGen UID:
1750188
Concept ID:
C5436678
Disease or Syndrome
Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 45
MedGen UID:
1776221
Concept ID:
C5436791
Disease or Syndrome
Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 46
MedGen UID:
1726728
Concept ID:
C5436799
Disease or Syndrome
Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures (Liu et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 47
MedGen UID:
1721477
Concept ID:
C5436818
Disease or Syndrome
Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities (Lv et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 48
MedGen UID:
1761843
Concept ID:
C5436823
Disease or Syndrome
Spermatogenic failure-48 (SPGF48) is characterized by male infertility due to a variable spectrum of severely impaired spermatogenesis, primarily at meiosis and resulting in azoospermia. However, sparse postmeiotic germ cell development and retrieval of sperm in some cases has been reported (Wyrwoll et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 49
MedGen UID:
1742668
Concept ID:
C5436887
Disease or Syndrome
Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility (He et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failures 50
MedGen UID:
1747507
Concept ID:
C5436888
Disease or Syndrome
Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 3
MedGen UID:
1784059
Concept ID:
C5542347
Disease or Syndrome
X-linked spermatogenic failure-3 (SPGFX3) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Azoospermia, obstructive, with nephrolithiasis
MedGen UID:
1779119
Concept ID:
C5542351
Disease or Syndrome
Obstructive azoospermia with nephrolithiasis (OAZON) is characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones (Askari et al., 2019).
Spermatogenic failure 52
MedGen UID:
1785685
Concept ID:
C5543094
Disease or Syndrome
Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage (Fan et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 53
MedGen UID:
1787013
Concept ID:
C5543253
Disease or Syndrome
Spermatogenic failure-53 (SPGF53) is characterized by oocyte fertilization failure due to lack of oocyte activation, associated with ultrastructural abnormalities of the sperm head (Dai et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 54
MedGen UID:
1782493
Concept ID:
C5543570
Disease or Syndrome
Spermatogenic failure-54 (SPGF54) is characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility (Arafat et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 55
MedGen UID:
1781781
Concept ID:
C5543580
Disease or Syndrome
Spermatogenic failure-55 (SPGF55) is characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility (Xu et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 56
MedGen UID:
1794188
Concept ID:
C5561978
Disease or Syndrome
Spermatogenic failure-56 (SPGF56) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), resulting in severely reduced sperm motility (Tu et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 57
MedGen UID:
1794198
Concept ID:
C5561988
Disease or Syndrome
Spermatogenic failure-57 (SPGF57) is characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage (Nagirnaja et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 58
MedGen UID:
1794218
Concept ID:
C5562008
Disease or Syndrome
Spermatogenic failure-58 (SPGF58) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF). Sperm are immotile or show severely reduced progressive motility due to short and irregular caliber flagella as well as bent, coiled, and absent flagella. Head abnormalities have also been observed, including acrosomal and postacrosomal defects (Lores et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 59
MedGen UID:
1794244
Concept ID:
C5562034
Disease or Syndrome
Spermatogenic failure-59 (SPGF59) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest (Salas-Huetos et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 60
MedGen UID:
1794245
Concept ID:
C5562035
Disease or Syndrome
Spermatogenic failure-60 (SPGF60) is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy shows maturation arrest before the pachytene stage (Krausz et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 61
MedGen UID:
1794258
Concept ID:
C5562048
Disease or Syndrome
Spermatogenic failure-61 (SPGF61) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete meiotic arrest at the primary spermatocyte stage (Riera-Escamilla et al., 2019;van der Bijl et al., 2019). Mutation in the STAG3 gene also causes premature ovarian failure (POF8; 615723), resulting in female infertility. For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 62
MedGen UID:
1794259
Concept ID:
C5562049
Disease or Syndrome
Spermatogenic failure-62 (SPGF62) is characterized by male infertility due to nonobstructive azoospermia, resulting from complete metaphase arrest at the spermatocyte stage (Riera-Escamilla et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 63
MedGen UID:
1794265
Concept ID:
C5562055
Disease or Syndrome
Spermatogenic failure-63 (SPGF63) is characterized by male infertility due to severe oligozoospermia with markedly reduced progressive motility (Tu et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 64
MedGen UID:
1794272
Concept ID:
C5562062
Disease or Syndrome
Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage, whereas others show low sperm counts and reduced progressive motility, and spermatozoa have enlarged amorphous heads (Ma et al., 2019; Wu et al., 2022). Mutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (see OOMD12, 619697). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 65
MedGen UID:
1794277
Concept ID:
C5562067
Disease or Syndrome
Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present (Tan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).
Heterotaxy, visceral, 10, autosomal, with male infertility
MedGen UID:
1794282
Concept ID:
C5562072
Disease or Syndrome
Visceral heterotaxy-10 (HTX10) is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Affected individuals may experience mild chronic respiratory symptoms, but do not fulfill the criteria for primary ciliary dyskinesia (see 244400). Male infertility has been reported (Ta-Shma et al., 2015; Dougherty et al., 2020). For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Spermatogenic failure, X-linked, 4
MedGen UID:
1804024
Concept ID:
C5676882
Disease or Syndrome
X-linked spermatogenic failure-4 (SPGFX4) is characterized by male infertility due to azoospermia or oligoasthenoteratozoospermia. Some patients show maturation arrest, and Sertoli cell-only phenotype has been observed (Hardy et al., 2021; Arafat et al., 2021; Kherraf et al., 2022). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 66
MedGen UID:
1806298
Concept ID:
C5676945
Disease or Syndrome
Spermatogenic failure-66 (SPGF66) is characterized by male infertility due to all sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 67
MedGen UID:
1804099
Concept ID:
C5676947
Disease or Syndrome
Spermatogenic failure-67 (SPGF67) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 68
MedGen UID:
1812032
Concept ID:
C5676949
Disease or Syndrome
Spermatogenic failure-68 (SPGF68) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 69
MedGen UID:
1811285
Concept ID:
C5676960
Disease or Syndrome
Spermatogenic failure-69 (SPGF69) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 70
MedGen UID:
1809945
Concept ID:
C5676962
Disease or Syndrome
Spermatogenic failure-70 (SPGF70) is characterized by male infertility due to azoospermia or sperm immotility and necrozoospermia (Yildirim et al., 2018). Hypospermatogenesis and meiotic arrest have also been observed (Kherraf et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 71
MedGen UID:
1801153
Concept ID:
C5676963
Disease or Syndrome
Spermatogenic failure-71 (SPGF71) is characterized by male infertility due to nonobstructive azoospermia (Alhathal et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 72
MedGen UID:
1803118
Concept ID:
C5676980
Disease or Syndrome
Spermatogenic failure-72 (SPGF72) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including coiled, short, angulated, absent, and irregular-caliber flagella, resulting in lack of sperm motility (Ni et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 73
MedGen UID:
1801127
Concept ID:
C5676988
Disease or Syndrome
Spermatogenic failure-73 (SPGF73) is characterized by male infertility, resulting from nonobstructive azoospermia due to meiotic arrest (Li et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 74
MedGen UID:
1812069
Concept ID:
C5677010
Disease or Syndrome
Spermatogenic failure-74 (SPGF74) is characterized by nonobstructive azoospermia and male infertility due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage. Some men exhibit reduced testicular volume and/or reduced testosterone level (Wyrwoll et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 75
MedGen UID:
1804291
Concept ID:
C5677014
Disease or Syndrome
Spermatogenic failure-75 (SPGF75) is characterized by male infertility due to nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage (Krausz et al., 2020; Yao et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 76
MedGen UID:
1824009
Concept ID:
C5774236
Disease or Syndrome
Spermatogenic failure-76 (SPGF76) is characterized by male infertility due to oligoasthenoteratozoospermia. Multiple morphologic abnormalities of the flagella (MMAF) have been observed, including short, absent, and irregular caliber flagella. Ultrastructural anomalies include disordered outer dense fibers and abnormal 9+2 microtubular structures (Cong et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 77
MedGen UID:
1824018
Concept ID:
C5774245
Disease or Syndrome
Spermatogenic failure-77 (SPGF77) is characterized by male infertility due to extreme oligozoospermia or azoospermia. Nearly all spermatozoa present on semen analysis are morphologically abnormal, with amorphous, enlarged, and/or fragmented heads, and some are multiflagellated. Testicular tissue shows arrest at the round spermatid stage (Wyrwoll et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 78
MedGen UID:
1824049
Concept ID:
C5774276
Disease or Syndrome
Spermatogenic failure-78 (SPGF78) is characterized by male infertility resulting from an abnormal acrosome structure due to a manchette assembly defect (Dai et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 79
MedGen UID:
1824063
Concept ID:
C5774290
Disease or Syndrome
Spermatogenic failure-79 (SPGF79) is characterized by male infertility due to an abnormal acrosome reaction and impaired membrane potential after capacitation. Some patients exhibit asthenoteratozoospermia, with defective acrosome formation and mitochondrial sheath assembly, and reduced progressive motility (Lv et al., 2022; Liu et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Ciliary dyskinesia, primary, 49, without situs inversus
MedGen UID:
1824064
Concept ID:
C5774291
Disease or Syndrome
Primary ciliary dyskinesia-49 (CILD49) without situs inversus is an autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Affected males also show infertility due to defective flagellar morphology and function. Nasal nitric oxide (NO) levels are normal and situs abnormalities are not observed (Sha et al., 2020; Biebach et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Spermatogenic failure 80
MedGen UID:
1824074
Concept ID:
C5774301
Disease or Syndrome
Spermatogenic failure-80 (SPGF80) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including short, coiled, absent, and irregular-caliber flagella, with correspondingly reduced or absent progressive motility of sperm. Abnormalities of the sperm head have also been observed. Severe axonemal disorganization is evident on transmission electron microscopy (Zhang et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 5
MedGen UID:
1840194
Concept ID:
C5829558
Disease or Syndrome
X-linked spermatogenic failure-5 (SPGFX5) is characterized by male infertility due to asthenoteratozoospermia. Patient sperm shows reduced or absent progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, including short, coiled, irregular caliber, absent, and/or angulated flagella. Pregnancy may be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 6
MedGen UID:
1840198
Concept ID:
C5829562
Disease or Syndrome
X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 7
MedGen UID:
1840203
Concept ID:
C5829567
Disease or Syndrome
X-linked spermatogenic failure-7 (SPGFX7) is characterized by male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development (Zhang et al., 2023). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 81
MedGen UID:
1840965
Concept ID:
C5830329
Disease or Syndrome
Spermatogenic failure-81 (SPGF81) is characterized by male infertility due to oligoasthenoteratozoospermia. Patient spermatozoa exhibit acrosomal hypoplasia as well as detachment of the acrosome from the sperm head, and also show markedly reduced progressive motility (Liu et al., 2023) For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 82
MedGen UID:
1841104
Concept ID:
C5830468
Disease or Syndrome
Spermatogenic failure-82 (SPGF82) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (Liu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 83
MedGen UID:
1841106
Concept ID:
C5830470
Disease or Syndrome
Spermatogenic failure-83 (SPGF83) is characterized by male infertility due to asthenozoospermia. Patient sperm are immotile, and exhibit an asymmetric fibrous sheath of the flagella (Wu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Ciliary dyskinesia, primary, 50
MedGen UID:
1841109
Concept ID:
C5830473
Disease or Syndrome
Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Spermatogenic failure 84
MedGen UID:
1841198
Concept ID:
C5830562
Disease or Syndrome
Spermatogenic failure-84 (SPGF84) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), including irregular-caliber, bent, coiled, absent, or short tails, resulting in severely reduced motility. Some patients also have a reduced sperm count (Liu et al., 2021; Hu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).
Ciliary dyskinesia, primary, 51
MedGen UID:
1841244
Concept ID:
C5830608
Disease or Syndrome
Primary ciliary dyskinesia-51 (CILD51) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Some men also have a low sperm count. In addition, affected individuals experience chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus (Guo et al., 2021). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

Professional guidelines

PubMed

Leisegang K, Sengupta P, Agarwal A, Henkel R
Andrologia 2021 Feb;53(1):e13617. Epub 2020 May 12 doi: 10.1111/and.13617. PMID: 32399992
Zambrano Serrano CA, Carvajal Obando A
Actas Urol Esp (Engl Ed) 2020 Jun;44(5):321-327. Epub 2020 Mar 30 doi: 10.1016/j.acuro.2019.10.013. PMID: 32241672
Leaver RB
Br J Nurs 2016 Oct 13;25(18):S35-S40. doi: 10.12968/bjon.2016.25.18.S35. PMID: 27734725

Recent clinical studies

Etiology

Feng J, He H, Wang Y, Zhang X, Zhang X, Zhang T, Zhu M, Wu X, Zhang Y
Front Endocrinol (Lausanne) 2022;13:1009537. Epub 2022 Oct 18 doi: 10.3389/fendo.2022.1009537. PMID: 36329891Free PMC Article
Ferramosca A, Zara V
Int J Mol Sci 2022 Feb 25;23(5) doi: 10.3390/ijms23052542. PMID: 35269682Free PMC Article
Schlegel PN, Sigman M, Collura B, De Jonge CJ, Eisenberg ML, Lamb DJ, Mulhall JP, Niederberger C, Sandlow JI, Sokol RZ, Spandorfer SD, Tanrikut C, Treadwell JR, Oristaglio JT, Zini A
J Urol 2021 Jan;205(1):36-43. Epub 2020 Dec 9 doi: 10.1097/JU.0000000000001521. PMID: 33295257
Choy JT, Eisenberg ML
Fertil Steril 2018 Oct;110(5):810-814. doi: 10.1016/j.fertnstert.2018.08.015. PMID: 30316415
Jensen CFS, Østergren P, Dupree JM, Ohl DA, Sønksen J, Fode M
Nat Rev Urol 2017 Sep;14(9):523-533. Epub 2017 Jul 4 doi: 10.1038/nrurol.2017.98. PMID: 28675168

Diagnosis

Eisenberg ML, Esteves SC, Lamb DJ, Hotaling JM, Giwercman A, Hwang K, Cheng YS
Nat Rev Dis Primers 2023 Sep 14;9(1):49. doi: 10.1038/s41572-023-00459-w. PMID: 37709866
Sharma A, Minhas S, Dhillo WS, Jayasena CN
J Clin Endocrinol Metab 2021 Jan 23;106(2):e442-e459. doi: 10.1210/clinem/dgaa781. PMID: 33295608Free PMC Article
Zambrano Serrano CA, Carvajal Obando A
Actas Urol Esp (Engl Ed) 2020 Jun;44(5):321-327. Epub 2020 Mar 30 doi: 10.1016/j.acuro.2019.10.013. PMID: 32241672
Choy JT, Eisenberg ML
Fertil Steril 2018 Oct;110(5):810-814. doi: 10.1016/j.fertnstert.2018.08.015. PMID: 30316415
Krausz C, Riera-Escamilla A
Nat Rev Urol 2018 Jun;15(6):369-384. doi: 10.1038/s41585-018-0003-3. PMID: 29622783

Therapy

Feng J, He H, Wang Y, Zhang X, Zhang X, Zhang T, Zhu M, Wu X, Zhang Y
Front Endocrinol (Lausanne) 2022;13:1009537. Epub 2022 Oct 18 doi: 10.3389/fendo.2022.1009537. PMID: 36329891Free PMC Article
Banks N, Sun F, Krawetz SA, Coward RM, Masson P, Smith JF, Trussell JC, Santoro N, Zhang H, Steiner AZ
Fertil Steril 2021 Oct;116(4):973-979. Epub 2021 Jul 18 doi: 10.1016/j.fertnstert.2021.06.035. PMID: 34289935Free PMC Article
Zambrano Serrano CA, Carvajal Obando A
Actas Urol Esp (Engl Ed) 2020 Jun;44(5):321-327. Epub 2020 Mar 30 doi: 10.1016/j.acuro.2019.10.013. PMID: 32241672
Schisterman EF, Sjaarda LA, Clemons T, Carrell DT, Perkins NJ, Johnstone E, Lamb D, Chaney K, Van Voorhis BJ, Ryan G, Summers K, Hotaling J, Robins J, Mills JL, Mendola P, Chen Z, DeVilbiss EA, Peterson CM, Mumford SL
JAMA 2020 Jan 7;323(1):35-48. doi: 10.1001/jama.2019.18714. PMID: 31910279Free PMC Article
Qu F, Li R, Sun W, Lin G, Zhang R, Yang J, Tian L, Xing GG, Jiang H, Gong F, Liang XY, Meng Y, Liu JY, Zhou LY, Wang SY, Wu Y, He YJ, Ye JY, Han SP, Han JS
J Zhejiang Univ Sci B 2017 Mar.;18(3):186-193. doi: 10.1631/jzus.B1600437. PMID: 28271655Free PMC Article

Prognosis

Zauner G, Girardi G
J Reprod Immunol 2020 Sep;141:103173. Epub 2020 Jun 28 doi: 10.1016/j.jri.2020.103173. PMID: 32652349
Vander Borght M, Wyns C
Clin Biochem 2018 Dec;62:2-10. Epub 2018 Mar 16 doi: 10.1016/j.clinbiochem.2018.03.012. PMID: 29555319
Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, Toppari J, Andersson AM, Eisenberg ML, Jensen TK, Jørgensen N, Swan SH, Sapra KJ, Ziebe S, Priskorn L, Juul A
Physiol Rev 2016 Jan;96(1):55-97. doi: 10.1152/physrev.00017.2015. PMID: 26582516Free PMC Article
Biyani CS, Cartledge J, Janetschek G
BMJ Clin Evid 2009 Jan 6;2009 PMID: 19445764Free PMC Article
Meacham RB, Joyce GF, Wise M, Kparker A, Niederberger C; Urologic Diseases in America Project
J Urol 2007 Jun;177(6):2058-66. doi: 10.1016/j.juro.2007.01.131. PMID: 17509286

Clinical prediction guides

Feng J, He H, Wang Y, Zhang X, Zhang X, Zhang T, Zhu M, Wu X, Zhang Y
Front Endocrinol (Lausanne) 2022;13:1009537. Epub 2022 Oct 18 doi: 10.3389/fendo.2022.1009537. PMID: 36329891Free PMC Article
Björndahl L, Kirkman Brown J; other Editorial Board Members of the WHO Laboratory Manual for the Examination and Processing of Human Semen
Fertil Steril 2022 Feb;117(2):246-251. Epub 2022 Jan 2 doi: 10.1016/j.fertnstert.2021.12.012. PMID: 34986984
Zambrano Serrano CA, Carvajal Obando A
Actas Urol Esp (Engl Ed) 2020 Jun;44(5):321-327. Epub 2020 Mar 30 doi: 10.1016/j.acuro.2019.10.013. PMID: 32241672
Thurston L, Abbara A, Dhillo WS
J Clin Pathol 2019 Sep;72(9):579-587. Epub 2019 Jul 11 doi: 10.1136/jclinpath-2018-205579. PMID: 31296604
Choy JT, Eisenberg ML
Fertil Steril 2018 Oct;110(5):810-814. doi: 10.1016/j.fertnstert.2018.08.015. PMID: 30316415

Recent systematic reviews

Huijben M, Huijsmans RLN, Lock MTWT, de Kemp VF, de Kort LMO, van Breda JHMK
Andrology 2023 Sep;11(6):987-996. Epub 2023 Jan 29 doi: 10.1111/andr.13388. PMID: 36680549
Levine H, Jørgensen N, Martino-Andrade A, Mendiola J, Weksler-Derri D, Jolles M, Pinotti R, Swan SH
Hum Reprod Update 2023 Mar 1;29(2):157-176. doi: 10.1093/humupd/dmac035. PMID: 36377604
Simon L, Emery B, Carrell DT
Adv Exp Med Biol 2019;1166:87-105. doi: 10.1007/978-3-030-21664-1_6. PMID: 31301048
Payne KS, Mazur DJ, Hotaling JM, Pastuszak AW
J Urol 2019 Oct;202(4):674-681. Epub 2019 Sep 6 doi: 10.1097/JU.0000000000000248. PMID: 30916627Free PMC Article
Semet M, Paci M, Saïas-Magnan J, Metzler-Guillemain C, Boissier R, Lejeune H, Perrin J
Andrology 2017 Jul;5(4):640-663. Epub 2017 Jun 16 doi: 10.1111/andr.12366. PMID: 28622464

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