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Reduced sperm motility

MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
Synonym: Asthenospermia
 
HPO: HP:0012207

Definition

An abnormal reduction in the mobility of ejaculated sperm. [from HPO]

Conditions with this feature

Renal cysts and diabetes syndrome
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Axial spondylometaphyseal dysplasia
MedGen UID:
356065
Concept ID:
C1865695
Disease or Syndrome
Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora (summary by Suzuki et al., 2011).
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.
Ciliary dyskinesia, primary, 11
MedGen UID:
390741
Concept ID:
C2675229
Disease or Syndrome
Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\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\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\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\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\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\nPrimary 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.
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.
Ciliary dyskinesia, primary, 19
MedGen UID:
762332
Concept ID:
C3543826
Disease or Syndrome
Primary ciliary dyskinesia-19 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.
Ciliary dyskinesia, primary, 22
MedGen UID:
815873
Concept ID:
C3809543
Disease or Syndrome
Primary ciliary dyskinesia-22 is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013).
Ciliary dyskinesia, primary, 26
MedGen UID:
816014
Concept ID:
C3809684
Disease or Syndrome
Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Spermatogenic failure 16
MedGen UID:
934641
Concept ID:
C4310674
Disease or Syndrome
Spermatogenic failure-16 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).
Spermatogenic failure 21
MedGen UID:
1617056
Concept ID:
C4539991
Disease or Syndrome
Spermatogenic failure-21 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 24
MedGen UID:
1646063
Concept ID:
C4693751
Disease or Syndrome
Spermatogenic failure-24 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate (Dong et al., 2018). For a general phenotypic 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. Patient 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. Ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells (Whitfield 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).
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 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.

Recent clinical studies

Etiology

Yuan G, Zeng Y, Hu G, Liu Y, Wei L, Liu P, Liu G, Cheng J
Environ Int 2021 Jun;151:106459. Epub 2021 Mar 6 doi: 10.1016/j.envint.2021.106459. PMID: 33684682
Türk E, Ozan Tekeli I, Özkan H, Uyar A, Cellat M, Kuzu M, Yavas I, Alizadeh Yegani A, Yaman T, Güvenç M
Andrologia 2021 Mar;53(2):e13930. Epub 2020 Dec 24 doi: 10.1111/and.13930. PMID: 33368464
Kurkowska W, Bogacz A, Janiszewska M, Gabryś E, Tiszler M, Bellanti F, Kasperczyk S, Machoń-Grecka A, Dobrakowski M, Kasperczyk A
Am J Mens Health 2020 Sep-Oct;14(5):1557988320939731. doi: 10.1177/1557988320939731. PMID: 32938274Free PMC Article
Moretti E, Collodel G, Mazzi L, Campagna MS, Figura N
Dis Markers 2013;35(4):229-34. Epub 2013 Sep 8 doi: 10.1155/2013/919174. PMID: 24167371Free PMC Article
Nagarkatti-Gude DR, Collodel G, Hill LD, Moretti E, Geminiani M, Zhang Z, Strauss JF 3rd
BMC Urol 2012 Sep 10;12:27. doi: 10.1186/1471-2490-12-27. PMID: 22963137Free PMC Article

Diagnosis

Nasrallah F, Hammami MB, Omar S, Aribia HB, Sanhaji H, Feki M
Clin Lab 2020 Sep 1;66(9) doi: 10.7754/Clin.Lab.2020.191248. PMID: 32902220
Heidary Z, Saliminejad K, Zaki-Dizaji M, Khorram Khorshid HR
Hum Fertil (Camb) 2020 Jun;23(2):83-92. Epub 2018 Sep 9 doi: 10.1080/14647273.2018.1504325. PMID: 30198353
Liu C, He X, Liu W, Yang S, Wang L, Li W, Wu H, Tang S, Ni X, Wang J, Gao Y, Tian S, Zhang L, Cong J, Zhang Z, Tan Q, Zhang J, Li H, Zhong Y, Lv M, Li J, Jin L, Cao Y, Zhang F
Am J Hum Genet 2019 Dec 5;105(6):1168-1181. Epub 2019 Nov 14 doi: 10.1016/j.ajhg.2019.10.010. PMID: 31735294Free PMC Article
Moretti E, Collodel G, Mazzi L, Campagna MS, Figura N
Dis Markers 2013;35(4):229-34. Epub 2013 Sep 8 doi: 10.1155/2013/919174. PMID: 24167371Free PMC Article
Nagarkatti-Gude DR, Collodel G, Hill LD, Moretti E, Geminiani M, Zhang Z, Strauss JF 3rd
BMC Urol 2012 Sep 10;12:27. doi: 10.1186/1471-2490-12-27. PMID: 22963137Free PMC Article

Therapy

Yuan G, Zeng Y, Hu G, Liu Y, Wei L, Liu P, Liu G, Cheng J
Environ Int 2021 Jun;151:106459. Epub 2021 Mar 6 doi: 10.1016/j.envint.2021.106459. PMID: 33684682
Tektemur A, Etem Önalan E, Kaya Tektemur N, Dayan Cinkara S, Kılınçlı Çetin A, Tekedereli İ, Kuloğlu T, Türk G
Andrologia 2021 Mar;53(2):e13954. Epub 2020 Dec 28 doi: 10.1111/and.13954. PMID: 33372325
Liu C, He X, Liu W, Yang S, Wang L, Li W, Wu H, Tang S, Ni X, Wang J, Gao Y, Tian S, Zhang L, Cong J, Zhang Z, Tan Q, Zhang J, Li H, Zhong Y, Lv M, Li J, Jin L, Cao Y, Zhang F
Am J Hum Genet 2019 Dec 5;105(6):1168-1181. Epub 2019 Nov 14 doi: 10.1016/j.ajhg.2019.10.010. PMID: 31735294Free PMC Article
Zebral YD, Anni ISA, Junior ASV, Corcini CD, da Silva JC, Caldas JS, Acosta IB, Afonso SB, Bianchini A
Chemosphere 2019 Dec;236:124332. Epub 2019 Jul 16 doi: 10.1016/j.chemosphere.2019.07.063. PMID: 31323547
Hezavehei M, Kouchesfahani HM, Shahverdi A, Sharafi M, Salekdeh GH, Eftekhari-Yazdi P
Reprod Biomed Online 2019 Mar;38(3):413-425. Epub 2019 Jan 8 doi: 10.1016/j.rbmo.2018.11.029. PMID: 30658893

Prognosis

Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Liu C, He X, Liu W, Yang S, Wang L, Li W, Wu H, Tang S, Ni X, Wang J, Gao Y, Tian S, Zhang L, Cong J, Zhang Z, Tan Q, Zhang J, Li H, Zhong Y, Lv M, Li J, Jin L, Cao Y, Zhang F
Am J Hum Genet 2019 Dec 5;105(6):1168-1181. Epub 2019 Nov 14 doi: 10.1016/j.ajhg.2019.10.010. PMID: 31735294Free PMC Article
Miura N, Ohtani K, Hasegawa T, Yoshioka H, Hwang GW
Sci Rep 2019 Oct 7;9(1):14373. doi: 10.1038/s41598-019-50741-9. PMID: 31591413Free PMC Article
Hashemitabar M, Sabbagh S, Orazizadeh M, Ghadiri A, Bahmanzadeh M
J Assist Reprod Genet 2015 Jun;32(6):853-63. Epub 2015 Apr 1 doi: 10.1007/s10815-015-0465-7. PMID: 25825237Free PMC Article
Khosronezhad N, Hosseinzadeh Colagar A, Mortazavi SM
J Assist Reprod Genet 2015 May;32(5):807-15. Epub 2015 Feb 22 doi: 10.1007/s10815-015-0443-0. PMID: 25702163Free PMC Article

Clinical prediction guides

Yuan G, Zeng Y, Hu G, Liu Y, Wei L, Liu P, Liu G, Cheng J
Environ Int 2021 Jun;151:106459. Epub 2021 Mar 6 doi: 10.1016/j.envint.2021.106459. PMID: 33684682
Nowicka-Bauer K, Lepczynski A, Ozgo M, Kamieniczna M, Fraczek M, Stanski L, Olszewska M, Malcher A, Skrzypczak W, Kurpisz MK
J Physiol Pharmacol 2018 Jun;69(3) Epub 2018 Aug 22 doi: 10.26402/jpp.2018.3.05. PMID: 30149371
Moretti E, Collodel G, Mazzi L, Campagna MS, Figura N
Dis Markers 2013;35(4):229-34. Epub 2013 Sep 8 doi: 10.1155/2013/919174. PMID: 24167371Free PMC Article
Fukuda M, Fukuda K, Shimizu T, Yomura W, Shimizu S
Hum Reprod 1996 Jun;11(6):1244-6. doi: 10.1093/oxfordjournals.humrep.a019365. PMID: 8671433
Folgerø T, Bertheussen K, Lindal S, Torbergsen T, Oian P
Hum Reprod 1993 Nov;8(11):1863-8. doi: 10.1093/oxfordjournals.humrep.a137950. PMID: 8288752

Recent systematic reviews

Adams JA, Galloway TS, Mondal D, Esteves SC, Mathews F
Environ Int 2014 Sep;70:106-12. Epub 2014 Jun 10 doi: 10.1016/j.envint.2014.04.015. PMID: 24927498

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