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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrosomal hypoplasia

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).
See: Condition Record
Spermatogenic failure 81

Professional guidelines

PubMed

Semen parameters, including WHO and strict criteria morphology, in a fertile and subfertile population: an effort towards standardization of in-vivo thresholds.
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
Quantitative ultramorphological (QUM) analysis of human sperm: diagnosis and management of male infertility.
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
Strict criteria for the evaluation of human sperm morphology and its impact on assisted reproduction.
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

Etiology

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects.
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
Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail.
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

Diagnosis

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects.
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
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
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
Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail.
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

Prognosis

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
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
Tales of the tail and sperm head aches: changing concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail.
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

Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects.
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
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia.
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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