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Spermatogenic failure 29(SPGF29)

MedGen UID:: 1648499
•Concept ID:: C4748142
•: Disease or Syndrome

Synonym:	SPGF29

Gene (location): Gene(s) directly associated with this condition or phenotype.	SPINK2 (4q12)

Monarch Initiative:	MONDO:0054733
OMIM®:	618091

Definition

Spermatogenic failure-29 (SPGF29) is characterized by nonobstructive azoospermia or oligozoospermia. Sperm that are present are immotile and exhibit abnormal morphology, primarily defects of the acrosome and head-neck junction (Kherraf et al., 2017). For a 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.

See: Feature record | Search on this feature

Immotile sperm

MedGen UID:: 701339
•Concept ID:: C1278278
•: Finding

A lack of mobility of ejaculated sperm.

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Non-obstructive azoospermia

MedGen UID:: 866757
•Concept ID:: C4021107
•: Disease or Syndrome

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

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Abnormality of the genitourinary system

Recent clinical studies

Etiology

The impact of vincristine on testicular development and function in childhood cancer.

Clark I, Brougham MFH, Spears N, Mitchell RT
Hum Reprod Update 2023 Mar 1;29(2):233-245. doi: 10.1093/humupd/dmac039. PMID: 36495566 Free PMC Article

Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.

Paladhi P, Dutta S, Pal S, Bose G, Ghosh P, Chattopadhyay R, Chakravarty B, Saha I, Ghosh S
Reprod Sci 2022 Apr;29(4):1241-1261. Epub 2022 Jan 18 doi: 10.1007/s43032-021-00839-1. PMID: 35041134

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749 Free PMC Article

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275 Free PMC Article

Y chromosome variants and male reproductive function.

McElreavey K, Ravel C, Chantot-Bastaraud S, Siffroi JP
Int J Androl 2006 Feb;29(1):298-303; discussion 304-6. doi: 10.1111/j.1365-2605.2005.00637.x. PMID: 16466551

See all (9)

Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.

Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255 Free PMC Article

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.

Chen S, Wang G, Zheng X, Ge S, Dai Y, Ping P, Chen X, Liu G, Zhang J, Yang Y, Zhang X, Zhong A, Zhu Y, Chu Q, Huang Y, Zhang Y, Shen C, Yuan Y, Yuan Q, Pei X, Cheng CY, Sun F
Hum Mol Genet 2020 Aug 11;29(14):2451-2459. doi: 10.1093/hmg/ddaa101. PMID: 32469048

Validation of flow cytometry analysis in the objective assessment of spermatogenesis: comparison to the quantitative testicular biopsy.

Hirsch IH, McCue P, Kulp-Hugues D, Sedor J, Flanigan M
J Urol 1993 Aug;150(2 Pt 1):342-6. doi: 10.1016/s0022-5347(17)35480-0. PMID: 8326559

See all (4)

Therapy

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Efficacy and acceptability of testosterone implants, alone or in combination with a 5alpha-reductase inhibitor, for male hormonal contraception.

McLachlan RI, McDonald J, Rushford D, Robertson DM, Garrett C, Baker HW
Contraception 2000 Aug;62(2):73-8. doi: 10.1016/s0010-7824(00)00139-6. PMID: 11102590

See all (2)

Prognosis

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

Y chromosome variants and male reproductive function.

McElreavey K, Ravel C, Chantot-Bastaraud S, Siffroi JP
Int J Androl 2006 Feb;29(1):298-303; discussion 304-6. doi: 10.1111/j.1365-2605.2005.00637.x. PMID: 16466551

See all (2)

Clinical prediction guides

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.

A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population.

Thangaraj K, Deepa SR, Pavani K, Gupta NJ, Reddy P, Reddy AG, Chakravarty BN, Singh L
Int J Androl 2006 Oct;29(5):510-14. doi: 10.1111/j.1365-2605.2006.00685.x. PMID: 16573709

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

Validation of flow cytometry analysis in the objective assessment of spermatogenesis: comparison to the quantitative testicular biopsy.

Hirsch IH, McCue P, Kulp-Hugues D, Sedor J, Flanigan M
J Urol 1993 Aug;150(2 Pt 1):342-6. doi: 10.1016/s0022-5347(17)35480-0. PMID: 8326559

See all (4)

Recent systematic reviews

The impact of vincristine on testicular development and function in childhood cancer.

Clark I, Brougham MFH, Spears N, Mitchell RT
Hum Reprod Update 2023 Mar 1;29(2):233-245. doi: 10.1093/humupd/dmac039. PMID: 36495566 Free PMC Article

See all (1)

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Spermatogenic failure 29(SPGF29)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

Genetic Testing Registry

Clinical resources

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