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Acrosomal hypoplasia

MedGen UID:
1841709
Concept ID:
C5826763
Finding
HPO: HP:0034913

Definition

Reduction in the size of the acrosome of the head of spermatozoa. [from HPO]

Term Hierarchy

Conditions with this feature

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 86
MedGen UID:
1847370
Concept ID:
C5882755
Disease or Syndrome
Spermatogenic failure-86 (SPGF86) is characterized by male infertility due to acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. Some oocytes exhibit early embryonic arrest after successful fertilization with patient sperm using assisted reproductive technology (Xin et al., 2020; Wang et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Professional guidelines

PubMed

Menkveld R, Wong WY, Lombard CJ, Wetzels AM, Thomas CM, Merkus HM, Steegers-Theunissen RP
Hum Reprod 2001 Jun;16(6):1165-71. doi: 10.1093/humrep/16.6.1165. PMID: 11387287
Bartoov B, Eltes F, Reichart M, Langzam J, Lederman H, Zabludovsky N
Arch Androl 1999 May-Jun;42(3):161-77. doi: 10.1080/014850199262823. PMID: 10407647
Grow D, Oehninger S
Andrologia 1995 Nov-Dec;27(6):325-33. doi: 10.1111/j.1439-0272.1995.tb01367.x. PMID: 8597303

Recent clinical studies

Prognosis

Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Hum Reprod 2020 Jan 1;35(1):240-252. doi: 10.1093/humrep/dez246. PMID: 31985809Free PMC Article
Chemes HE, Alvarez Sedo C
Asian J Androl 2012 Jan;14(1):14-23. Epub 2011 Dec 26 doi: 10.1038/aja.2011.168. PMID: 22198630Free PMC Article

Clinical prediction guides

Guo R, Wu H, Zhu X, Wang G, Hu K, Li K, Geng H, Xu C, Zu C, Gao Y, Tang D, Cao Y, He X
J Med Genet 2024 May 21;61(6):553-565. doi: 10.1136/jmg-2023-109766. PMID: 38341271
Li Y, Wang Y, Wen Y, Zhang T, Wang X, Jiang C, Zheng R, Zhou F, Chen D, Yang Y, Shen Y
Hum Reprod 2021 Dec 27;37(1):152-177. doi: 10.1093/humrep/deab229. PMID: 34791246
Oud MS, Okutman Ö, Hendricks LAJ, de Vries PF, Houston BJ, Vissers LELM, O'Bryan MK, Ramos L, Chemes HE, Viville S, Veltman JA
Hum Reprod 2020 Jan 1;35(1):240-252. doi: 10.1093/humrep/dez246. PMID: 31985809Free PMC Article

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