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Spermatogenic failure 66(SPGF66)

MedGen UID:
1806298
Concept ID:
C5676945
Disease or Syndrome
Synonym: SPGF66
 
Gene (location): ZPBP (7p12.2)
 
Monarch Initiative: MONDO:0030716
OMIM®: 619799

Definition

Spermatogenic failure-66 (SPGF66) is characterized by male infertility due to all 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

Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

Diagnosis

Liu KE, Binsaleh S, Lo KC, Jarvi K
Fertil Steril 2008 Sep;90(3):849.e17-9. Epub 2007 Dec 11 doi: 10.1016/j.fertnstert.2007.08.026. PMID: 18054928
Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061

Therapy

Alsubaie LM, Alsuwat HS, Almandil NB, AlSulaiman A, AbdulAzeez S, Borgio JF
Mol Biol Rep 2020 Oct;47(10):7623-7632. Epub 2020 Sep 29 doi: 10.1007/s11033-020-05832-6. PMID: 32996047
Liu KE, Binsaleh S, Lo KC, Jarvi K
Fertil Steril 2008 Sep;90(3):849.e17-9. Epub 2007 Dec 11 doi: 10.1016/j.fertnstert.2007.08.026. PMID: 18054928

Prognosis

Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974
Fox MS, Ares VX, Turek PJ, Haqq C, Reijo Pera RA
Mol Reprod Dev 2003 Dec;66(4):403-21. doi: 10.1002/mrd.10364. PMID: 14579417

Clinical prediction guides

Lardone MC, Marengo A, Parada-Bustamante A, Cifuentes L, Piottante A, Ebensperger M, Valdevenito R, Castro A
J Assist Reprod Genet 2013 Apr;30(4):531-8. Epub 2013 Feb 8 doi: 10.1007/s10815-013-9950-z. PMID: 23388839Free PMC Article
Plaseski T, Novevski P, Kocevska B, Dimitrovski C, Efremov GD, Plaseska-Karanfilska D
Prilozi 2006 Jul;27(1):5-16. PMID: 16862061
Fox MS, Ares VX, Turek PJ, Haqq C, Reijo Pera RA
Mol Reprod Dev 2003 Dec;66(4):403-21. doi: 10.1002/mrd.10364. PMID: 14579417

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