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Spermatogenic failure 68(SPGF68)

MedGen UID:
1812032
Concept ID:
C5676949
Disease or Syndrome
Synonym: SPGF68
 
Gene (location): C2CD6 (2q33.1)
 
Monarch Initiative: MONDO:0030721
OMIM®: 619805

Definition

Spermatogenic failure-68 (SPGF68) 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).

Professional guidelines

PubMed

Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article

Recent clinical studies

Etiology

Ping P, Zheng Z, Ma Y, Zou SS, Chen XF
Asian J Androl 2022 May-Jun;24(3):299-304. doi: 10.4103/aja202151. PMID: 34677147Free PMC Article
Li HG, Fan LH, Liu B, Qian YQ, Chen M, Sun YX, Dong MY
Asian J Androl 2020 Nov-Dec;22(6):642-648. doi: 10.4103/aja.aja_13_20. PMID: 32362598Free PMC Article
Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
Blagosklonova O, Joanne C, Roux C, Bittard H, Fellmann F, Bresson JL
Hum Reprod 2002 Aug;17(8):2062-5. doi: 10.1093/humrep/17.8.2062. PMID: 12151437

Diagnosis

Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062

Therapy

Kumar R
Clinics (Sao Paulo) 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08. PMID: 23503956Free PMC Article

Prognosis

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878

Clinical prediction guides

Antonio L, Priskorn L, Olesen IA, Petersen JH, Vanderschueren D, Jørgensen N
Bone 2020 Jul;136:115366. Epub 2020 Apr 15 doi: 10.1016/j.bone.2020.115366. PMID: 32304878
Lardone MC, Piottante A, Valdevenito R, Ebensperger M, Castro A
Andrologia 2013 Dec;45(6):379-85. Epub 2012 Sep 26 doi: 10.1111/and.12026. PMID: 23013062
Blagosklonova O, Joanne C, Roux C, Bittard H, Fellmann F, Bresson JL
Hum Reprod 2002 Aug;17(8):2062-5. doi: 10.1093/humrep/17.8.2062. PMID: 12151437

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