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Spermatogenic failure 3(SPGF3)

MedGen UID:
1648302
•Concept ID:
C4721889
•
Disease or Syndrome
Synonym: SPGF3
 
Gene (location): SLC26A8 (6p21.31)
 
Monarch Initiative: MONDO:0011720
OMIM®: 606766

Definition

In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013). For a discussion of phenotypic and 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
Reduced sperm motility
MedGen UID:
907698
•Concept ID:
C4082176
•
Finding
An abnormal reduction in the mobility of ejaculated sperm.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Clinical management of infertile men with nonobstructive azoospermia.
Esteves SC
Asian J Androl 2015 May-Jun;17(3):459-70. doi: 10.4103/1008-682X.148719. PMID: 25677138Free PMC Article
Clinical Review#: State of the art for genetic testing of infertile men.
McLachlan RI, O'Bryan MK
J Clin Endocrinol Metab 2010 Mar;95(3):1013-24. Epub 2010 Jan 20 doi: 10.1210/jc.2009-1925. PMID: 20089613

Recent clinical studies

Etiology

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328Free PMC Article
Genetics of spermatogenic failure.
Huang WJ, Yen PH
Sex Dev 2008;2(4-5):251-9. Epub 2008 Nov 5 doi: 10.1159/000152041. PMID: 18987499

Diagnosis

Undiagnosed RASopathies in infertile men.
Juchnewitsch AG, Pomm K, Dutta A, Tamp E, Valkna A, Lillepea K, Mahyari E, Tjagur S, Belova G, Kübarsepp V, Castillo-Madeen H, Riera-Escamilla A, Põlluaas L, Nagirnaja L, Poolamets O, Vihljajev V, Sütt M, Versbraegen N, Papadimitriou S, McLachlan RI, Jarvi KA, Schlegel PN, Tennisberg S, Korrovits P, Vigh-Conrad K, O'Bryan MK, Aston KI, Lenaerts T, Conrad DF, Kasak L, Punab M, Laan M
Front Endocrinol (Lausanne) 2024;15:1312357. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1312357. PMID: 38654924Free PMC Article
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
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: 35849255Free PMC Article
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328Free PMC Article

Therapy

Microdissection testicular sperm extraction (micro-TESE) in men with infertility due to nonobstructive azoospermia: summary of current literature.
Achermann APP, Pereira TA, Esteves SC
Int Urol Nephrol 2021 Nov;53(11):2193-2210. Epub 2021 Aug 19 doi: 10.1007/s11255-021-02979-4. PMID: 34410586
External and Genetic Conditions Determining Male Infertility.
Kamiński P, Baszyński J, Jerzak I, Kavanagh BP, Nowacka-Chiari E, Polanin M, Szymański M, Woźniak A, Kozera W
Int J Mol Sci 2020 Jul 24;21(15) doi: 10.3390/ijms21155274. PMID: 32722328Free PMC Article
Testosterone Replacement Therapy Versus Clomiphene Citrate in the Young Hypogonadal Male.
Scovell JM, Khera M
Eur Urol Focus 2018 Apr;4(3):321-323. Epub 2018 Aug 18 doi: 10.1016/j.euf.2018.07.033. PMID: 30131284
Hydrogen Sulfide As a Potential Target in Preventing Spermatogenic Failure and Testicular Dysfunction.
Wang J, Wang W, Li S, Han Y, Zhang P, Meng G, Xiao Y, Xie L, Wang X, Sha J, Chen Q, Moore PK, Wang R, Xiang W, Ji Y
Antioxid Redox Signal 2018 Jun 1;28(16):1447-1462. Epub 2017 Oct 16 doi: 10.1089/ars.2016.6968. PMID: 28537489
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675

Prognosis

Proteomic biomarkers in seminal plasma as predictors of reproductive potential in azoospermic men.
Fietz D, Sgaier R, O'Donnell L, Stanton PG, Dagley LF, Webb AI, Schuppe HC, Diemer T, Pilatz A
Front Endocrinol (Lausanne) 2024;15:1327800. Epub 2024 Apr 9 doi: 10.3389/fendo.2024.1327800. PMID: 38654926Free PMC Article
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
CHD7 missense variants and clinical characteristics of Chinese males with infertility.
Li L, Wang R, Yu Y, Zhang H, Jiang Y, Yang X, Liu R
Mol Genet Genomic Med 2020 Sep;8(9):e1372. Epub 2020 Jun 22 doi: 10.1002/mgg3.1372. PMID: 32573075Free 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
Consequences of Y chromosome microdeletions beyond male infertility.
Colaco S, Modi D
J Assist Reprod Genet 2019 Jul;36(7):1329-1337. Epub 2019 Jun 18 doi: 10.1007/s10815-019-01492-z. PMID: 31214882Free PMC Article

Clinical prediction guides

Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K, Juchnewitsch AG, Kasak L, Valkna A, Dutta A, Pomm K, Poolamets O, Nagirnaja L, Tamp E, Mahyari E, Vihljajev V, Tjagur S, Papadimitriou S, Riera-Escamilla A, Versbraegen N, Farnetani G, Castillo-Madeen H, Sütt M, Kübarsepp V, Tennisberg S, Korrovits P, Krausz C, Aston KI, Lenaerts T, Conrad DF, Punab M, Laan M
Am J Hum Genet 2024 May 2;111(5):877-895. Epub 2024 Apr 12 doi: 10.1016/j.ajhg.2024.03.013. PMID: 38614076Free PMC Article
Microdeletions and microduplications linked to severe congenital disorders in infertile men.
Kikas T, Punab AM, Kasak L, Poolamets O, Vihljajev V, Pomm K, Reiman M, Tjagur S, Korrovits P, Punab M, Laan M
Sci Rep 2023 Jan 11;13(1):574. doi: 10.1038/s41598-023-27750-w. PMID: 36631630Free PMC Article
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
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
Consequences of Y chromosome microdeletions beyond male infertility.
Colaco S, Modi D
J Assist Reprod Genet 2019 Jul;36(7):1329-1337. Epub 2019 Jun 18 doi: 10.1007/s10815-019-01492-z. PMID: 31214882Free PMC Article

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