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Spermatogenic failure 76(SPGF76)

MedGen UID:: 1824009
•Concept ID:: C5774236
•: Disease or Syndrome

Synonym:	SPGF76

Gene (location): Gene(s) directly associated with this condition or phenotype.	CCDC34 (11p14.1)

Monarch Initiative:	MONDO:0031077
OMIM®:	620084

Definition

Spermatogenic failure-76 (SPGF76) is characterized by male infertility due to oligoasthenoteratozoospermia. Multiple morphologic abnormalities of the flagella (MMAF) have been observed, including short, absent, and irregular caliber flagella. Ultrastructural anomalies include disordered outer dense fibers and abnormal 9+2 microtubular structures (Cong 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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Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

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Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

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Irregularly shaped sperm tail

MedGen UID:: 1687959
•Concept ID:: C5233737
•: Finding

Irregular or changing caliber (diameter) along the tail of the sperm.

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Abnormality of the genitourinary system

Professional guidelines

PubMed

Reply to Alberto Ferlin's Letter to the Editor, re: Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review, Meta-analysis of European, North American Studies. Eur Urol 2019, 76:626-36. Indication for Y Chromosome Microdeletion Analysis in Infertile Men Should Not be, Based Merely on Sperm Concentration: Shared Decision-Making and Reconsideration of Thresholds for Genetic Testing of Men with Severe Spermatogenic Failure.

Kohn TP, Kohn JR, Owen RC, Matthew Coward R
Eur Urol 2020 Apr;77(4):e98-e99. Epub 2020 Jan 21 doi: 10.1016/j.eururo.2020.01.013. PMID: 31980315

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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

Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.

Ghorbel M, Baklouti-Gargouri S, Keskes R, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L
Gene 2014 Sep 1;547(2):191-4. Epub 2014 May 28 doi: 10.1016/j.gene.2014.05.061. PMID: 24878370

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

Y chromosome TSPY copy numbers and semen quality.

Nickkholgh B, Noordam MJ, Hovingh SE, van Pelt AM, van der Veen F, Repping S
Fertil Steril 2010 Oct;94(5):1744-7. Epub 2009 Nov 14 doi: 10.1016/j.fertnstert.2009.09.051. PMID: 19917507

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, Chadli E, Louanjli N, Elfath A, Hassar M, McElreavey K, Barakat A, Rouba H
Asian J Androl 2007 Sep;9(5):674-8. doi: 10.1111/j.1745-7262.2007.00290.x. PMID: 17712485

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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

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Clinical prediction guides

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

Y chromosome TSPY copy numbers and semen quality.

Nickkholgh B, Noordam MJ, Hovingh SE, van Pelt AM, van der Veen F, Repping S
Fertil Steril 2010 Oct;94(5):1744-7. Epub 2009 Nov 14 doi: 10.1016/j.fertnstert.2009.09.051. PMID: 19917507

AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome?

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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Spermatogenic failure 76(SPGF76)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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