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Azoospermia

MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Synonyms: Absent sperm in semen; Azoospermatism; azoospermia; Azoospermia disorder; Sperm absent; Sperm absent - azoospermia
SNOMED CT: Sperm absent - azoospermia (48188009); Sperm absent (48188009); Azoospermia disorder (425558002); Azoospermia (48188009); Azoospermatism (48188009)
 
HPO: HP:0000027
Monarch Initiative: MONDO:0100459

Definition

Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. [from HPO]

Conditions with this feature

Bloom syndrome
MedGen UID:
2685
Concept ID:
C0005859
Disease or Syndrome
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites.
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).
Partial androgen insensitivity syndrome
MedGen UID:
82785
Concept ID:
C0268301
Disease or Syndrome
Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015).
Isolated lutropin deficiency
MedGen UID:
82881
Concept ID:
C0271582
Disease or Syndrome
Male patients with hypogonadotropic hypogonadism due to isolated luteinizing hormone (LH) deficiency have normal sexual differentiation but fail to develop spontaneous puberty. Absence of LH alters Leydig cell proliferation and maturation and impairs the onset of normal spermatogenesis, which requires high levels of intratesticular testosterone. Infertility and very low levels of spermatogenesis generally persist in affected men despite long-term exposure to gonadotropin therapy. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea (summary by Basciani et al., 2012). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a general phenotypic description and discussion of genetic heterogeneity of hypogonadotropic hypogonadism, see 147950. Reviews Arnhold et al. (2009) noted that the clinical manifestations of female patients with hypogonadotropic hypogonadism due to mutations in LHB are very similar to those of women with hypergonadotropic hypogonadism due to inactivating mutations of the LH receptor (see 238320): all have female external genitalia, spontaneous development of normal pubic hair and breasts at puberty, and normal to late menarche followed by oligoamenorrhea and infertility. Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts. However, women with LHB mutations can be treated with luteinizing hormone or chorionic gonadotropin (CG; 118860) replacement therapy; women with LH receptor mutations are resistant to LH, and no treatment is effective in recovering their fertility.
Young syndrome
MedGen UID:
137934
Concept ID:
C0340037
Disease or Syndrome
Young syndrome is characterized by chronic sinopulmonary infections, persistent azoospermia, and normal spermatogenesis (Handelsman et al., 1984).
Congenital adrenal hypoplasia, X-linked
MedGen UID:
87442
Concept ID:
C0342482
Disease or Syndrome
NR0B1-related adrenal hypoplasia congenita includes both X-linked adrenal hypoplasia congenita (X-linked AHC) and Xp21 deletion (previously called complex glycerol kinase deficiency). X-linked AHC is characterized by primary adrenal insufficiency and/or hypogonadotropic hypogonadism (HH). Adrenal insufficiency is acute infantile onset (average age 3 weeks) in approximately 60% of affected males and childhood onset (ages 1-9 years) in approximately 40%. HH typically manifests in a male with adrenal insufficiency as delayed puberty (i.e., onset age >14 years) and less commonly as arrested puberty at about Tanner Stage 3. Rarely, X-linked AHC manifests initially in early adulthood as delayed-onset adrenal insufficiency, partial HH, and/or infertility. Heterozygous females very occasionally have manifestations of adrenal insufficiency or hypogonadotropic hypogonadism. Xp21 deletion includes deletion of NR0B1 (causing X-linked AHC) and GK (causing glycerol kinase deficiency), and in some cases deletion of DMD (causing Duchenne muscular dystrophy). Developmental delay has been reported in males with Xp21 deletion when the deletion extends proximally to include DMD or when larger deletions extend distally to include IL1RAPL1 and DMD.
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.
Germ cell tumor of testis
MedGen UID:
277809
Concept ID:
C1336708
Neoplastic Process
Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell Tumors A locus for testicular germ cell tumors (TGCT1; 300228) has been identified on chromosome Xq27.
Hypogonadotropic hypogonadism 1 with or without anosmia
MedGen UID:
295872
Concept ID:
C1563719
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
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.
Hypogonadism with low-grade mental deficiency and microcephaly
MedGen UID:
383787
Concept ID:
C1855858
Disease or Syndrome
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).
H syndrome
MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).
Hemochromatosis type 2A
MedGen UID:
356321
Concept ID:
C1865614
Disease or Syndrome
Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.
46,XX sex reversal 1
MedGen UID:
411324
Concept ID:
C2748895
Disease or Syndrome
Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.
46,XX sex reversal 2
MedGen UID:
411414
Concept ID:
C2749215
Disease or Syndrome
Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.
Sterol carrier protein 2 deficiency
MedGen UID:
462340
Concept ID:
C3150990
Disease or Syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Spinocerebellar ataxia type 32
MedGen UID:
462693
Concept ID:
C3151343
Disease or Syndrome
Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Spermatogenic failure 8
MedGen UID:
462756
Concept ID:
C3151406
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
MedGen UID:
463207
Concept ID:
C3151857
Disease or Syndrome
This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).
Hemochromatosis type 1
MedGen UID:
854011
Concept ID:
C3469186
Disease or Syndrome
HFE hemochromatosis is characterized by inappropriately high absorption of iron by the small intestinal mucosa. The phenotypic spectrum of HFE hemochromatosis includes: Persons with clinical HFE hemochromatosis, in whom manifestations of end-organ damage secondary to iron overload are present; Individuals with biochemical HFE hemochromatosis, in whom transferrin-iron saturation is increased and the only evidence of iron overload is increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In untreated individuals, early symptoms include: abdominal pain, weakness, lethargy, weight loss, arthralgias, diabetes mellitus; and increased risk of cirrhosis when the serum ferritin is higher than 1,000 ng/mL. Other findings may include progressive increase in skin pigmentation, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE hemochromatosis is more common in men than women.
Hypogonadotropic hypogonadism 8 with or without anosmia
MedGen UID:
766755
Concept ID:
C3553841
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Hypogonadotropic hypogonadism 16 with or without anosmia
MedGen UID:
766935
Concept ID:
C3554021
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Severe congenital hypochromic anemia with ringed sideroblasts
MedGen UID:
815250
Concept ID:
C3808920
Disease or Syndrome
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.
Spermatogenic failure 12
MedGen UID:
815757
Concept ID:
C3809427
Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.
Obesity due to CEP19 deficiency
MedGen UID:
816654
Concept ID:
C3810324
Disease or Syndrome
A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.
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.
Premature ovarian failure 10
MedGen UID:
898849
Concept ID:
C4225402
Disease or Syndrome
Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells. For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (300488).
Mayer-Rokitansky-Küster-Hauser syndrome type 2
MedGen UID:
931237
Concept ID:
C4305568
Disease or Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.
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).
Spermatogenic failure 23
MedGen UID:
1626589
Concept ID:
C4540185
Disease or Syndrome
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.
Ciliary dyskinesia, primary, 40
MedGen UID:
1648365
Concept ID:
C4749028
Disease or Syndrome
Primary ciliary dyskinesia-40 (CILD40) is an autosomal recessive disorder with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018). For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).
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 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 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).
Hypogonadotropic hypogonadism 24 without anosmia
MedGen UID:
1806136
Concept ID:
C5574957
Disease or Syndrome
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a general phenotypic description and a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.
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 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 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).

Professional guidelines

PubMed

Zitzmann M, Aksglaede L, Corona G, Isidori AM, Juul A, T'Sjoen G, Kliesch S, D'Hauwers K, Toppari J, Słowikowska-Hilczer J, Tüttelmann F, Ferlin A
Andrology 2021 Jan;9(1):145-167. Epub 2020 Oct 6 doi: 10.1111/andr.12909. PMID: 32959490
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
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network
Andrology 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. PMID: 24357628Free PMC Article

Recent clinical studies

Etiology

Xia P, Ouyang S, Shen R, Guo Z, Zhang G, Liu X, Yang X, Xie K, Wang D
Int J Mol Sci 2023 May 16;24(10) doi: 10.3390/ijms24108819. PMID: 37240164Free PMC Article
Brant A, Schlegel PN
Curr Opin Urol 2023 Jan 1;33(1):39-44. Epub 2022 Oct 27 doi: 10.1097/MOU.0000000000001055. PMID: 36301052
Almekaty K, Zahran MH, Eid A, Ralph D, Rashed A
Urology 2023 Jan;171:121-126. Epub 2022 Oct 12 doi: 10.1016/j.urology.2022.09.019. PMID: 36241065
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Zhang XY, Zhu TY, Zhang QR, Guo XJ, Wang C, Jin GF, Hu ZB
Yi Chuan 2021 May 20;43(5):473-486. doi: 10.16288/j.yczz.20-343. PMID: 33972217

Diagnosis

Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK
Andrology 2022 Nov;10(8):1605-1624. Epub 2022 Sep 7 doi: 10.1111/andr.13269. PMID: 36017582Free PMC Article
Cioppi F, Rosta V, Krausz C
Int J Mol Sci 2021 Mar 23;22(6) doi: 10.3390/ijms22063264. PMID: 33806855Free PMC Article
Zhao L, Yao C, Xing X, Jing T, Li P, Zhu Z, Yang C, Zhai J, Tian R, Chen H, Luo J, Liu N, Deng Z, Lin X, Li N, Fang J, Sun J, Wang C, Zhou Z, Li Z
Nat Commun 2020 Nov 10;11(1):5683. doi: 10.1038/s41467-020-19414-4. PMID: 33173058Free PMC Article
Wosnitzer MS, Goldstein M
Urol Clin North Am 2014 Feb;41(1):83-95. Epub 2013 Oct 15 doi: 10.1016/j.ucl.2013.08.013. PMID: 24286769
Cocuzza M, Alvarenga C, Pagani R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):15-26. doi: 10.6061/clinics/2013(sup01)03. PMID: 23503951Free PMC Article

Therapy

Minhas S, Bettocchi C, Boeri L, Capogrosso P, Carvalho J, Cilesiz NC, Cocci A, Corona G, Dimitropoulos K, Gül M, Hatzichristodoulou G, Jones TH, Kadioglu A, Martínez Salamanca JI, Milenkovic U, Modgil V, Russo GI, Serefoglu EC, Tharakan T, Verze P, Salonia A; EAU Working Group on Male Sexual and Reproductive Health
Eur Urol 2021 Nov;80(5):603-620. Epub 2021 Sep 10 doi: 10.1016/j.eururo.2021.08.014. PMID: 34511305
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free 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
Kanakis GA, Nieschlag E
Metabolism 2018 Sep;86:135-144. Epub 2018 Jan 31 doi: 10.1016/j.metabol.2017.09.017. PMID: 29382506
Chao J, Page ST, Anderson RA
Best Pract Res Clin Obstet Gynaecol 2014 Aug;28(6):845-57. Epub 2014 Jun 5 doi: 10.1016/j.bpobgyn.2014.05.008. PMID: 24947599Free PMC Article

Prognosis

Almekaty K, Zahran MH, Eid A, Ralph D, Rashed A
Urology 2023 Jan;171:121-126. Epub 2022 Oct 12 doi: 10.1016/j.urology.2022.09.019. PMID: 36241065
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK
Andrology 2022 Nov;10(8):1605-1624. Epub 2022 Sep 7 doi: 10.1111/andr.13269. PMID: 36017582Free PMC Article
Fainberg J, Hayden RP, Schlegel PN
Expert Rev Endocrinol Metab 2019 Nov;14(6):369-380. Epub 2019 Oct 7 doi: 10.1080/17446651.2019.1671821. PMID: 31587581
Van Steirteghem A
Baillieres Clin Obstet Gynaecol 1997 Dec;11(4):725-38. doi: 10.1016/s0950-3552(97)80009-0. PMID: 9692013

Clinical prediction guides

Xia P, Ouyang S, Shen R, Guo Z, Zhang G, Liu X, Yang X, Xie K, Wang D
Int J Mol Sci 2023 May 16;24(10) doi: 10.3390/ijms24108819. PMID: 37240164Free PMC Article
Almekaty K, Zahran MH, Eid A, Ralph D, Rashed A
Urology 2023 Jan;171:121-126. Epub 2022 Oct 12 doi: 10.1016/j.urology.2022.09.019. PMID: 36241065
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK
Andrology 2022 Nov;10(8):1605-1624. Epub 2022 Sep 7 doi: 10.1111/andr.13269. PMID: 36017582Free PMC Article
Meistrich ML
Pediatr Blood Cancer 2009 Aug;53(2):261-6. doi: 10.1002/pbc.22004. PMID: 19326418Free PMC Article

Recent systematic reviews

Kyrgiafini MA, Mamuris Z
Biomolecules 2023 Jun 27;13(7) doi: 10.3390/biom13071046. PMID: 37509082Free PMC Article
Esposito M, Salerno M, Calvano G, Agliozzo R, Ficarra V, Sessa F, Favilla V, Cimino S, Pomara C
Panminerva Med 2023 Mar;65(1):43-50. Epub 2022 Feb 11 doi: 10.23736/S0031-0808.22.04677-8. PMID: 35146992
Tharakan T, Corona G, Foran D, Salonia A, Sofikitis N, Giwercman A, Krausz C, Yap T, Jayasena CN, Minhas S
Hum Reprod Update 2022 Aug 25;28(5):609-628. doi: 10.1093/humupd/dmac016. PMID: 35526153Free PMC Article
Pang KH, Osman NI, Muneer A, Alnajjar HM
Int J Impot Res 2022 Sep;34(6):543-551. Epub 2021 Nov 6 doi: 10.1038/s41443-021-00492-x. PMID: 34743192
Schuppe HC, Pilatz A, Hossain H, Diemer T, Wagenlehner F, Weidner W
Dtsch Arztebl Int 2017 May 12;114(19):339-346. doi: 10.3238/arztebl.2017.0339. PMID: 28597829Free PMC Article

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