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Spermatogenic failure 67(SPGF67)

MedGen UID:
1804099
Concept ID:
C5676947
Disease or Syndrome
Synonym: SPGF67
 
Gene (location): CCDC62 (12q24.31)
 
Monarch Initiative: MONDO:0030718
OMIM®: 619803

Definition

Spermatogenic failure-67 (SPGF67) is characterized by male infertility due to sperm being round-headed (globozoospermia) and lacking the acrosome (Oud et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
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

Lu C, Wang Y, Zhang F, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X
Hum Reprod 2013 Sep;28(9):2440-9. Epub 2013 May 21 doi: 10.1093/humrep/det234. PMID: 23696539
Liang J, Gu A, Xia Y, Wu B, Lu N, Wang W, Lu C, Zheng Q, Wang S, Wang X
Int J Androl 2009 Jun;32(3):235-41. Epub 2007 Dec 6 doi: 10.1111/j.1365-2605.2007.00842.x. PMID: 18067564

Diagnosis

Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
Yeung CH, Beiglböck-Karau L, Tüttelmann F, Nieschlag E
Clin Endocrinol (Oxf) 2007 Nov;67(5):767-75. Epub 2007 Jul 4 doi: 10.1111/j.1365-2265.2007.02961.x. PMID: 17610519

Clinical prediction guides

Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
Aarabi M, Modarressi MH, Soltanghoraee H, Behjati R, Amirjannati N, Akhondi MM
Fertil Steril 2006 Aug;86(2):325-31. Epub 2006 Jul 5 doi: 10.1016/j.fertnstert.2005.12.070. PMID: 16824523
Leifke E, Simoni M, Kamischke A, Gromoll J, Bergmann M, Nieschlag E
Int J Androl 1997 Feb;20(1):29-36. doi: 10.1046/j.1365-2605.1997.00102.x. PMID: 9202988

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