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Abnormal sperm head morphology

MedGen UID:
868308
Concept ID:
C4022702
Finding
Synonym: Sperm head anomaly
 
HPO: HP:0012865

Definition

A structural abnormality of the sperm head. [from HPO]

Conditions with this feature

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.
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 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).

Professional guidelines

PubMed

Lasiene K, Gedrimas V, Vitkus A, Glinskyte S, Lasys V, Valanciute A, Sienkiewicz W
Pol J Vet Sci 2013;16(4):773-85. doi: 10.2478/pjvs-2013-0112. PMID: 24597318
Oral E, Yetis O, Elibol F, Senol H, Irez T, Aksu FM
Arch Androl 2002 Jul-Aug;48(4):307-14. doi: 10.1080/01485010290031628. PMID: 12137592
Bartoov B, Eltes F, Lunenfeld E, Har-Even D, Lederman H, Lunenfeld B
Fertil Steril 1994 Apr;61(4):727-34. doi: 10.1016/s0015-0282(16)56653-9. PMID: 8150117

Recent clinical studies

Etiology

Huang S, Huang Y, Li S, He Y
Andrologia 2022 Dec;54(11):e14620. Epub 2022 Oct 21 doi: 10.1111/and.14620. PMID: 36270636
Gázquez C, Oriola J, de Mateo S, Vidal-Taboada JM, Ballescà JL, Oliva R
J Androl 2008 Sep-Oct;29(5):540-8. Epub 2008 Apr 3 doi: 10.2164/jandrol.107.004390. PMID: 18390561
Telisman S, Cvitković P, Jurasović J, Pizent A, Gavella M, Rocić B
Environ Health Perspect 2000 Jan;108(1):45-53. doi: 10.1289/ehp.0010845. PMID: 10620523Free PMC Article

Diagnosis

Huang S, Huang Y, Li S, He Y
Andrologia 2022 Dec;54(11):e14620. Epub 2022 Oct 21 doi: 10.1111/and.14620. PMID: 36270636
Zorn B, Vidmar G, Meden-Vrtovec H
Int J Androl 2003 Oct;26(5):279-85. doi: 10.1046/j.1365-2605.2003.00424.x. PMID: 14511216

Therapy

Telisman S, Cvitković P, Jurasović J, Pizent A, Gavella M, Rocić B
Environ Health Perspect 2000 Jan;108(1):45-53. doi: 10.1289/ehp.0010845. PMID: 10620523Free PMC Article

Prognosis

Zorn B, Vidmar G, Meden-Vrtovec H
Int J Androl 2003 Oct;26(5):279-85. doi: 10.1046/j.1365-2605.2003.00424.x. PMID: 14511216

Clinical prediction guides

Yu Y, Wang J, Zhou L, Li H, Zheng B, Yang S
Zygote 2021 Feb;29(1):75-81. Epub 2020 Oct 13 doi: 10.1017/S0967199420000556. PMID: 33046149
Cassuto NG, Hazout A, Hammoud I, Balet R, Bouret D, Barak Y, Jellad S, Plouchart JM, Selva J, Yazbeck C
Reprod Biomed Online 2012 Feb;24(2):211-8. Epub 2011 Oct 22 doi: 10.1016/j.rbmo.2011.10.006. PMID: 22227364
Yatsenko AN, O'Neil DS, Roy A, Arias-Mendoza PA, Chen R, Murthy LJ, Lamb DJ, Matzuk MM
Mol Hum Reprod 2012 Jan;18(1):14-21. Epub 2011 Sep 12 doi: 10.1093/molehr/gar057. PMID: 21911476Free PMC Article
Zorn B, Vidmar G, Meden-Vrtovec H
Int J Androl 2003 Oct;26(5):279-85. doi: 10.1046/j.1365-2605.2003.00424.x. PMID: 14511216

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