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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
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
Recombinant gonadotropin therapy to improve spermatogenesis in nonobstructive azoospermic patients - A proof of concept study.
Laursen RJ, Alsbjerg B, Elbaek HO, Povlsen BB, Jensen KBS, Lykkegaard J, Esteves SC, Humaidan P
Int Braz J Urol 2022 May-Jun;48(3):471-481. doi: 10.1590/S1677-5538.IBJU.2022.9913. PMID: 35168313Free 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
Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination.
Yang B, Ma YY, Liu YQ, Li L, Yang D, Tu WL, Shen Y, Dong Q, Yang Y
Sci Rep 2015 May 22;5:10551. doi: 10.1038/srep10551. PMID: 26000765Free PMC Article

Diagnosis

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
A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure.
Gershoni M, Braun T, Hauser R, Barda S, Lehavi O, Malcov M, Frumkin T, Kalma Y, Pietrokovski S, Arama E, Kleiman SE
HGG Adv 2023 Jul 13;4(3):100189. Epub 2023 Mar 31 doi: 10.1016/j.xhgg.2023.100189. PMID: 37124137Free 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
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
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

Therapy

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
Propecia-induced spermatogenic failure: a report of two cases.
Liu KE, Binsaleh S, Lo KC, Jarvi K
Fertil Steril 2008 Sep;90(3):849.e17-9. Epub 2007 Dec 11 doi: 10.1016/j.fertnstert.2007.08.026. PMID: 18054928

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
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
Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure.
Clavijo RI, Arora H, Gibbs E, Cohen S, Griswold A, Bakircioglu E, Bademci G, Tekin M, Ramasamy R
Urology 2018 Oct;120:86-89. Epub 2018 Jun 30 doi: 10.1016/j.urology.2018.06.031. PMID: 29966603
Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review.
Jiang Y, Wang R, Li L, Xue L, Deng S, Liu R
Mol Med Rep 2017 Sep;16(3):3433-3438. Epub 2017 Jul 14 doi: 10.3892/mmr.2017.6981. PMID: 28713994

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
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
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
Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies.
Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC
Genet Test Mol Biomarkers 2011 Jun;15(6):451-9. Epub 2011 Mar 4 doi: 10.1089/gtmb.2010.0159. PMID: 21375402
Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients.
Pandey LK, Pandey S, Gupta J, Saxena AK
Genet Mol Res 2010 Jun 29;9(2):1267-73. doi: 10.4238/vol9-2gmr836. PMID: 20603812

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