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Spermatogenic failure 81(SPGF81)

MedGen UID:: 1840965
•Concept ID:: C5830329
•: Disease or Syndrome

Synonym:	SPGF81

Gene (location): Gene(s) directly associated with this condition or phenotype.	TEKT3 (17p12)

Monarch Initiative:	MONDO:0859522
OMIM®:	620277

Definition

Spermatogenic failure-81 (SPGF81) is characterized by male infertility due to oligoasthenoteratozoospermia. Patient spermatozoa exhibit acrosomal hypoplasia as well as detachment of the acrosome from the sperm head, and also show markedly reduced progressive motility (Liu et al., 2023) 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 progressive sperm motility

MedGen UID:: 1730031
•Concept ID:: C5436680
•: Finding

A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.

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Acrosomal hypoplasia

MedGen UID:: 1841709
•Concept ID:: C5826763
•: Finding

Reduction in the size of the acrosome of the head of spermatozoa.

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Multiple non-erupting secondary teeth

MedGen UID:: 376469
•Concept ID:: C1848904
•: Finding

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Abnormality of head or neck
- Multiple non-erupting secondary teeth
Abnormality of the genitourinary system

Recent clinical studies

Etiology

Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.

Tang D, Lv M, Gao Y, Cheng H, Li K, Xu C, Geng H, Li G, Shen Q, Wang C, He X, Cao Y
Reprod Biol Endocrinol 2021 Aug 24;19(1):129. doi: 10.1186/s12958-021-00815-z. PMID: 34429122 Free PMC Article

Quantitative histological analysis and ultrastructure of the aging human testis.

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

Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure.

Kuo PL, Wang ST, Lin YM, Lin YH, Teng YN, Hsu CC
Fertil Steril 2004 Apr;81(4):1034-40. doi: 10.1016/j.fertnstert.2003.08.047. PMID: 15066460

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Diagnosis

Testis-Specific Y-Centric Protein-Protein Interaction Network Provides Clues to the Etiology of Severe Spermatogenic Failure.

Ansari-Pour N, Razaghi-Moghadam Z, Barneh F, Jafari M
J Proteome Res 2016 Mar 4;15(3):1011-22. Epub 2016 Feb 4 doi: 10.1021/acs.jproteome.5b01080. PMID: 26794825

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Clinical prediction guides

Testis-Specific Y-Centric Protein-Protein Interaction Network Provides Clues to the Etiology of Severe Spermatogenic Failure.

Ansari-Pour N, Razaghi-Moghadam Z, Barneh F, Jafari M
J Proteome Res 2016 Mar 4;15(3):1011-22. Epub 2016 Feb 4 doi: 10.1021/acs.jproteome.5b01080. PMID: 26794825

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Spermatogenic failure 81(SPGF81)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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