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Spermatogenic failure 69(SPGF69)

MedGen UID:
1811285
Concept ID:
C5676960
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 69; SPGF69
 
Gene (location): GGN (19q13.2)
 
Monarch Initiative: MONDO:0030732
OMIM®: 619826

Definition

Spermatogenic failure-69 (SPGF69) 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

S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN
J Clin Lab Anal 2022 Mar;36(3):e24272. Epub 2022 Feb 5 doi: 10.1002/jcla.24272. PMID: 35122324Free PMC Article
Jiang H, Zhu WJ, Li J, Chen QJ, Liang WB, Gu YQ
Int Urol Nephrol 2014 May;46(5):879-85. Epub 2013 Nov 26 doi: 10.1007/s11255-013-0610-0. PMID: 24277275
Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK
Andrologia 2007 Jun;39(3):87-92. doi: 10.1111/j.1439-0272.2007.00769.x. PMID: 17683468
Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X
J Hum Genet 2007;52(8):659-663. Epub 2007 Jun 9 doi: 10.1007/s10038-007-0160-3. PMID: 17558462

Therapy

Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK
Andrologia 2007 Jun;39(3):87-92. doi: 10.1111/j.1439-0272.2007.00769.x. PMID: 17683468

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