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Spermatogenic failure 82(SPGF82)

MedGen UID:: 1841104
•Concept ID:: C5830468
•: Disease or Syndrome

Synonym:	SPGF82

Gene (location): Gene(s) directly associated with this condition or phenotype.	AKAP3 (12p13.32)

Monarch Initiative:	MONDO:0957249
OMIM®:	620353

Definition

Spermatogenic failure-82 (SPGF82) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (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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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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Coiled sperm flagella

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

Sperm cells whose flagella are twisted (coiled).

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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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Abnormality of the genitourinary system

Recent clinical studies

Etiology

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

High serum FSH is not a risk factor for low bone mineral density in infertile men.

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

Polymorphisms associated with the DAZ genes on the human Y chromosome.

Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH
Genomics 2005 Oct;86(4):431-8. doi: 10.1016/j.ygeno.2005.07.003. PMID: 16085382

FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.

Mateizel I, Verheyen G, Van Assche E, Tournaye H, Liebaers I, Van Steirteghem A
Hum Reprod 2002 Sep;17(9):2249-57. doi: 10.1093/humrep/17.9.2249. PMID: 12202410

Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men.

Lin YM, Chen CW, Sun HS, Tsai SJ, Hsu CC, Teng YN, Lin JS, Kuo PL
Mol Hum Reprod 2001 Nov;7(11):1015-22. doi: 10.1093/molehr/7.11.1015. PMID: 11675467

See all (5)

Diagnosis

Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia.

Colombo R, Pontoglio A, Bini M
Gynecol Obstet Invest 2017;82(3):283-286. Epub 2017 Mar 30 doi: 10.1159/000468934. PMID: 28355598

See all (1)

Prognosis

High serum FSH is not a risk factor for low bone mineral density in infertile men.

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

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

High serum FSH is not a risk factor for low bone mineral density in infertile men.

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

Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia.

Colombo R, Pontoglio A, Bini M
Gynecol Obstet Invest 2017;82(3):283-286. Epub 2017 Mar 30 doi: 10.1159/000468934. PMID: 28355598

FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.

Mateizel I, Verheyen G, Van Assche E, Tournaye H, Liebaers I, Van Steirteghem A
Hum Reprod 2002 Sep;17(9):2249-57. doi: 10.1093/humrep/17.9.2249. PMID: 12202410

See all (4)

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Spermatogenic failure 82(SPGF82)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

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Molecular resources

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