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Immotile sperm

MedGen UID:
701339
Concept ID:
C1278278
Finding
Synonym: Nonmotile sperm
SNOMED CT: Sperm immotility (315220002); Sperm immotile (315220002); Sperm non-motile (315220002); Spermatozoa non-motile (315220002)
 
HPO: HP:0012208

Definition

A lack of mobility of ejaculated sperm. [from HPO]

Conditions with this feature

Immotile cilia syndrome due to defective radial spokes
MedGen UID:
137933
Concept ID:
C0340035
Disease or Syndrome
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).
Primary ciliary dyskinesia 12
MedGen UID:
436379
Concept ID:
C2675228
Disease or Syndrome
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.
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.
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).
Primary ciliary dyskinesia 15
MedGen UID:
462487
Concept ID:
C3151137
Disease or Syndrome
Primary ciliary dyskinesia-15 (CILD15) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Primary ciliary dyskinesia 18
MedGen UID:
762331
Concept ID:
C3543825
Disease or Syndrome
Primary ciliary dyskinesia-18 (CILD18) 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 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 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).
Ciliary dyskinesia, primary, 41
MedGen UID:
1680404
Concept ID:
C5193103
Disease or Syndrome
Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis (Bustamante-Marin et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
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 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 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).

Professional guidelines

PubMed

El-Garem Y, El-Sawy M, Mostafa T
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Proc Natl Acad Sci U S A 2013 Jul 23;110(30):12319-24. Epub 2013 Jul 1 doi: 10.1073/pnas.1302827110. PMID: 23818598Free PMC Article

Recent clinical studies

Etiology

Hærvig KK, Petersen KU, Hougaard KS, Lindh C, Ramlau-Hansen CH, Toft G, Giwercman A, Høyer BB, Flachs EM, Bonde JP, Tøttenborg SS
Environ Health Perspect 2022 Oct;130(10):107001. Epub 2022 Oct 5 doi: 10.1289/EHP10285. PMID: 36197086Free PMC Article
Heydari R, Seresht-Ahmadi M, Mirshahvaladi S, Sabbaghian M, Mohseni-Meybodi A
Biol Reprod 2022 Apr 26;106(4):766-774. doi: 10.1093/biolre/ioab226. PMID: 34918036
Oud MS, Houston BJ, Volozonoka L, Mastrorosa FK, Holt GS, Alobaidi BKS, deVries PF, Astuti G, Ramos L, Mclachlan RI, O'Bryan MK, Veltman JA, Chemes HE, Sheth H
Hum Reprod 2021 Aug 18;36(9):2597-2611. doi: 10.1093/humrep/deab099. PMID: 34089056Free PMC Article
Henkel RR, Schill WB
Reprod Biol Endocrinol 2003 Nov 14;1:108. doi: 10.1186/1477-7827-1-108. PMID: 14617368Free PMC Article
Milisav I
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Diagnosis

Oud MS, Houston BJ, Volozonoka L, Mastrorosa FK, Holt GS, Alobaidi BKS, deVries PF, Astuti G, Ramos L, Mclachlan RI, O'Bryan MK, Veltman JA, Chemes HE, Sheth H
Hum Reprod 2021 Aug 18;36(9):2597-2611. doi: 10.1093/humrep/deab099. PMID: 34089056Free PMC Article
Zupin L, Pascolo L, Luppi S, Ottaviani G, Crovella S, Ricci G
Lasers Med Sci 2020 Oct;35(8):1671-1680. Epub 2020 Jun 1 doi: 10.1007/s10103-020-03042-x. PMID: 32483749
Simopoulou M, Gkoles L, Bakas P, Giannelou P, Kalampokas T, Pantos K, Koutsilieris M
Syst Biol Reprod Med 2016 Dec;62(6):359-371. Epub 2016 Sep 20 doi: 10.1080/19396368.2016.1229365. PMID: 27646677
Ortega C, Verheyen G, Raick D, Camus M, Devroey P, Tournaye H
Hum Reprod Update 2011 Sep-Oct;17(5):684-92. Epub 2011 Aug 3 doi: 10.1093/humupd/dmr018. PMID: 21816768
Bush A
Acta Otorhinolaryngol Belg 2000;54(3):317-24. PMID: 11082768

Therapy

Mahaldashtian M, Khalili MA, Nottola SA, Woodward B, Macchiarelli G, Miglietta S
Andrologia 2021 Feb;53(1):e13722. Epub 2020 Oct 28 doi: 10.1111/and.13722. PMID: 33112447
Tøttenborg SS, Glazer CH, Hærvig KK, Høyer BB, Toft G, Hougaard KS, Flachs EM, Deen L, Bonde JPE, Ramlau-Hansen CH
Fertil Steril 2020 Jul;114(1):89-96. Epub 2020 May 6 doi: 10.1016/j.fertnstert.2020.02.103. PMID: 32387273
Simopoulou M, Gkoles L, Bakas P, Giannelou P, Kalampokas T, Pantos K, Koutsilieris M
Syst Biol Reprod Med 2016 Dec;62(6):359-371. Epub 2016 Sep 20 doi: 10.1080/19396368.2016.1229365. PMID: 27646677
Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241
Turner P
Postgrad Med J 1988 Aug;64(754):578-80. doi: 10.1136/pgmj.64.754.578. PMID: 3150539Free PMC Article

Prognosis

Magli MC, Crippa A, Perruzza D, Azzena S, Graziosi S, Coppola F, Tabanelli C, Ferraretti AP, Gianaroli L
Reprod Biomed Online 2023 Mar;46(3):597-606. Epub 2022 Dec 1 doi: 10.1016/j.rbmo.2022.11.015. PMID: 36642560
Wang QL, Jiang SH, Ma CJ, Zhong KX, Zhuang JM, Lin DL, Huang PY, Ye GF, Jiang M, Zhu WB, Zhang ZM, Zhang XZ
Andrology 2022 Sep;10(6):1143-1149. Epub 2022 Jun 27 doi: 10.1111/andr.13205. PMID: 35701862
Gai J, Dervisevic E, Devendran C, Cadarso VJ, O'Bryan MK, Nosrati R, Neild A
Adv Sci (Weinh) 2022 Apr;9(11):e2104362. Epub 2022 Feb 9 doi: 10.1002/advs.202104362. PMID: 35419997Free PMC Article
Zhu ZJ, Wang YZ, Wang XB, Yao CC, Zhao LY, Zhang ZB, Wu Y, Chen W, Li Z
Asian J Androl 2022 Sep-Oct;24(5):463-472. doi: 10.4103/aja202183. PMID: 35102900Free PMC Article
Ortega C, Verheyen G, Raick D, Camus M, Devroey P, Tournaye H
Hum Reprod Update 2011 Sep-Oct;17(5):684-92. Epub 2011 Aug 3 doi: 10.1093/humupd/dmr018. PMID: 21816768

Clinical prediction guides

Magli MC, Crippa A, Perruzza D, Azzena S, Graziosi S, Coppola F, Tabanelli C, Ferraretti AP, Gianaroli L
Reprod Biomed Online 2023 Mar;46(3):597-606. Epub 2022 Dec 1 doi: 10.1016/j.rbmo.2022.11.015. PMID: 36642560
Hærvig KK, Petersen KU, Hougaard KS, Lindh C, Ramlau-Hansen CH, Toft G, Giwercman A, Høyer BB, Flachs EM, Bonde JP, Tøttenborg SS
Environ Health Perspect 2022 Oct;130(10):107001. Epub 2022 Oct 5 doi: 10.1289/EHP10285. PMID: 36197086Free PMC Article
Gai J, Dervisevic E, Devendran C, Cadarso VJ, O'Bryan MK, Nosrati R, Neild A
Adv Sci (Weinh) 2022 Apr;9(11):e2104362. Epub 2022 Feb 9 doi: 10.1002/advs.202104362. PMID: 35419997Free PMC Article
Heydari R, Seresht-Ahmadi M, Mirshahvaladi S, Sabbaghian M, Mohseni-Meybodi A
Biol Reprod 2022 Apr 26;106(4):766-774. doi: 10.1093/biolre/ioab226. PMID: 34918036
Turner P
Postgrad Med J 1988 Aug;64(754):578-80. doi: 10.1136/pgmj.64.754.578. PMID: 3150539Free PMC Article

Recent systematic reviews

Rubino P, Viganò P, Luddi A, Piomboni P
Hum Reprod Update 2016 Mar-Apr;22(2):194-227. Epub 2015 Nov 18 doi: 10.1093/humupd/dmv050. PMID: 26586241

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