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Spermatogenic failure 52(SPGF52)

MedGen UID:
1785685
•Concept ID:
C5543094
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 52; SPGF52
 
Gene (location): C14orf39 (14q23.1)
 
Monarch Initiative: MONDO:0030938
OMIM®: 619202

Definition

Spermatogenic failure-52 (SPGF52) is characterized by azoospermic infertility resulting from meiotic arrest at the spermatocyte stage (Fan et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
•Concept ID:
C0004509
•
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
See: Feature record | Search on this feature
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

Professional guidelines

PubMed

In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J
Hum Reprod 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. PMID: 10221708

Recent clinical studies

Etiology

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: 32554749Free PMC Article
Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
Variation analysis of SOX8 gene in Chinese men with non-obstructive azoospermia or oligozoospermia.
Zhang X, Ning Y, Liu W, Zhang T, Qin Y, Zhao S, Cao Y, Zhang H
Andrologia 2020 May;52(4):e13531. Epub 2020 Feb 12 doi: 10.1111/and.13531. PMID: 32048324
The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.
Lu C, Zhang F, Xia Y, Wu B, Gu A, Lu N, Wang S, Shen H, Jin L, Wang X
J Hum Genet 2007;52(8):659-663. Epub 2007 Jun 9 doi: 10.1007/s10038-007-0160-3. PMID: 17558462
Evaluation of DAZ microdeletions in 34 infertile men.
Abdelmoula NB, Sallemi A, Chakroun N, Keskes L, Amouri A, Rebai T
Arch Androl 2006 May-Jun;52(3):175-8. doi: 10.1080/01485010500316261. PMID: 16574598

Diagnosis

Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring: Case report of novel Y chromosome variations.
Liu X, Zhang H, Yu Y, Fei J, Jiang Y, Liu R, Wang R, Zhang G
Medicine (Baltimore) 2020 Sep 11;99(37):e22124. doi: 10.1097/MD.0000000000022124. PMID: 32925763Free PMC Article
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: 32554749Free PMC Article
DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure.
Lardone MC, Parada-Bustamante A, Ebensperger M, Valdevenito R, Kakarieka E, Martínez D, Pommer R, Piottante A, Castro A
Mol Hum Reprod 2011 Dec;17(12):739-46. Epub 2011 Jul 20 doi: 10.1093/molehr/gar051. PMID: 21775412
Evaluation of DAZ microdeletions in 34 infertile men.
Abdelmoula NB, Sallemi A, Chakroun N, Keskes L, Amouri A, Rebai T
Arch Androl 2006 May-Jun;52(3):175-8. doi: 10.1080/01485010500316261. PMID: 16574598

Therapy

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: 32554749Free PMC Article

Prognosis

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: 32554749Free PMC Article
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242
Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578
High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates.
de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R
Hum Reprod 2005 Jan;20(1):216-20. Epub 2004 Oct 28 doi: 10.1093/humrep/deh582. PMID: 15513974

Clinical prediction guides

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: 32554749Free PMC Article
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.
Arshad MA, Majzoub A, Esteves SC
Int Urol Nephrol 2020 Nov;52(11):2015-2038. Epub 2020 Jun 9 doi: 10.1007/s11255-020-02529-4. PMID: 32519242
Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele.
Arena S, Impellizzeri P, Fazzari C, Peri Flora M, Enrica A, Calabrese U, Centorrino A, Alibrandi A, Romeo C
Urol J 2020 Jun 23;17(4):391-396. doi: 10.22037/uj.v0i0.5351. PMID: 32207142
Decrease in semen quality and Leydig cell function in infertile men: a longitudinal study.
Olesen IA, Joensen UN, Petersen JH, Almstrup K, Rajpert-De Meyts E, Carlsen E, McLachlan R, Juul A, Jørgensen N
Hum Reprod 2018 Nov 1;33(11):1963-1974. doi: 10.1093/humrep/dey283. PMID: 30247578
DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure.
Lardone MC, Parada-Bustamante A, Ebensperger M, Valdevenito R, Kakarieka E, Martínez D, Pommer R, Piottante A, Castro A
Mol Hum Reprod 2011 Dec;17(12):739-46. Epub 2011 Jul 20 doi: 10.1093/molehr/gar051. PMID: 21775412

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