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Spermatogenic failure 79(SPGF79)

MedGen UID:: 1824063
•Concept ID:: C5774290
•: Disease or Syndrome

Synonym:	SPGF79

Gene (location): Gene(s) directly associated with this condition or phenotype.	KCNU1 (8p11.23)

Monarch Initiative:	MONDO:0859352
OMIM®:	620196

Definition

Spermatogenic failure-79 (SPGF79) is characterized by male infertility due to an abnormal acrosome reaction and impaired membrane potential after capacitation. Some patients exhibit asthenoteratozoospermia, with defective acrosome formation and mitochondrial sheath assembly, and reduced progressive motility (Lv et al., 2022; Liu et al., 2022). 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.

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Oligozoospermia

MedGen UID:: 678638
•Concept ID:: C0868910
•: Finding

Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.

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Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

An abnormal reduction in the mobility of ejaculated sperm.

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Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

Comparison of intracytoplasmic sperm injection (ICSI) outcomes in infertile men with spermatogenic impairment of differing severity.

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: 34677147 Free PMC Article

DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations.

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

Histological and hormonal testicular function in oligo/azoospermic infertile men.

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

Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.

Parada-Bustamante A, Lardone MC, Valdevenito R, Ebensperger M, López PV, Madariaga M, Piottante A, Castro A
J Androl 2012 Jan-Feb;33(1):88-95. Epub 2011 Mar 10 doi: 10.2164/jandrol.110.012195. PMID: 21393548

Partial AZFc deletions and duplications: clinical correlates in the Italian population.

Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C
Hum Genet 2008 Nov;124(4):399-410. Epub 2008 Sep 21 doi: 10.1007/s00439-008-0561-1. PMID: 18807255

See all (9)

Diagnosis

Histological and hormonal testicular function in oligo/azoospermic infertile men.

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

See all (1)

Clinical prediction guides

Primary azoospermia factor C duplication associated with spermatogenic impariment: a case-control study based on Y-chromosome haplogrouping in a Han Chinese population.

Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248

Histological and hormonal testicular function in oligo/azoospermic infertile men.

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

Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.

Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure.

Castro-Nallar E, Bacallao K, Parada-Bustamante A, Lardone MC, López PV, Madariaga M, Valdevenito R, Piottante A, Ebensperger M, Castro A
J Androl 2010 Nov-Dec;31(6):552-9. Epub 2010 Apr 8 doi: 10.2164/jandrol.109.008821. PMID: 20378930

Partial AZFc deletions and duplications: clinical correlates in the Italian population.

Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C
Hum Genet 2008 Nov;124(4):399-410. Epub 2008 Sep 21 doi: 10.1007/s00439-008-0561-1. PMID: 18807255

See all (5)

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Spermatogenic failure 79(SPGF79)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Table of contents

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