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Decreased acrosin in sperm head

MedGen UID:
1393000
Concept ID:
C4476995
Finding
HPO: HP:0031136

Definition

A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased acrosin in sperm head

Conditions with this feature

Globozoospermia
MedGen UID:
96048
Concept ID:
C0403825
Finding
Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Recent clinical studies

Etiology

Lin M, Ling P, He Q, Chen D, Zheng L, Tang L, Jiang SW
Cell Tissue Res 2023 Dec;394(3):529-545. Epub 2023 Oct 14 doi: 10.1007/s00441-023-03826-x. PMID: 37833433
Cui X, Jing X, Wu X, Wang Z, Li Q
Mol Med Rep 2016 Jul;14(1):753-61. Epub 2016 May 20 doi: 10.3892/mmr.2016.5318. PMID: 27221653Free PMC Article
Hammadeh ME, Askari AS, Georg T, Rosenbaum P, Schmidt W
Int J Androl 1999 Jun;22(3):155-62. doi: 10.1046/j.1365-2605.1999.00162.x. PMID: 10367235
Haidl G, Jung A, Schill WB
Hum Reprod 1996 Mar;11(3):558-60. doi: 10.1093/humrep/11.3.558. PMID: 8671265
Schill WB, Feifel M
Andrologia 1984 Nov-Dec;16(6):589-91. doi: 10.1111/j.1439-0272.1984.tb00418.x. PMID: 6393825

Diagnosis

Hammadeh ME, Askari AS, Georg T, Rosenbaum P, Schmidt W
Int J Androl 1999 Jun;22(3):155-62. doi: 10.1046/j.1365-2605.1999.00162.x. PMID: 10367235
Naz RK, Kaplan P
J Androl 1993 Jul-Aug;14(4):240-7. PMID: 8226303

Therapy

Cui X, Jing X, Wu X, Wang Z, Li Q
Mol Med Rep 2016 Jul;14(1):753-61. Epub 2016 May 20 doi: 10.3892/mmr.2016.5318. PMID: 27221653Free PMC Article

Clinical prediction guides

Cui X, Jing X, Wu X, Wang Z, Li Q
Mol Med Rep 2016 Jul;14(1):753-61. Epub 2016 May 20 doi: 10.3892/mmr.2016.5318. PMID: 27221653Free PMC Article
Aquila S, Guido C, Santoro A, Perrotta I, Laezza C, Bifulco M, Sebastiano A
Anat Rec (Hoboken) 2010 Feb;293(2):298-309. doi: 10.1002/ar.21042. PMID: 19938110
Hammadeh ME, Askari AS, Georg T, Rosenbaum P, Schmidt W
Int J Androl 1999 Jun;22(3):155-62. doi: 10.1046/j.1365-2605.1999.00162.x. PMID: 10367235
Schill WB, Feifel M
Andrologia 1984 Nov-Dec;16(6):589-91. doi: 10.1111/j.1439-0272.1984.tb00418.x. PMID: 6393825
Mack S, Bhattacharyya AK, Joyce C, van der Ven H, Zaneveld LJ
Biol Reprod 1983 Jun;28(5):1032-42. doi: 10.1095/biolreprod28.5.1032. PMID: 6409171

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