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Spermatogenic failure 13(SPGF13)

MedGen UID:
862886
Concept ID:
C4014449
Disease or Syndrome
Synonym: SPGF13
 
Gene (location): TAF4B (18q11.2)
 
Monarch Initiative: MONDO:0014365
OMIM®: 615841

Definition

Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. [from MONDO]

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.
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.
Abnormal prolactin level
MedGen UID:
868057
Concept ID:
C4022448
Finding
Abnormal circulating luteinizing hormone concentration
MedGen UID:
663319
Concept ID:
C0580438
Finding
An anomaly of the circulating level of luteinizing hormone (LH).
Abnormal circulating testosterone concentration
MedGen UID:
663334
Concept ID:
C0580454
Finding
An anomalous concentration of testosterone in the blood.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.

Professional guidelines

PubMed

Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article

Recent clinical studies

Etiology

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
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD
Andrology 2022 Oct;10(7):1339-1350. Epub 2022 Jul 8 doi: 10.1111/andr.13221. PMID: 35752927Free PMC Article
Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article
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: 23555275Free PMC Article

Diagnosis

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
Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF
Nat Commun 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. PMID: 36572685Free PMC Article
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
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article

Therapy

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
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
Sciurano RB, Rahn MI, Rey-Valzacchi G, Coco R, Solari AJ
Int J Androl 2012 Aug;35(4):541-9. Epub 2011 Oct 7 doi: 10.1111/j.1365-2605.2011.01221.x. PMID: 21977946
Gu Y, Liang X, Wu W, Liu M, Song S, Cheng L, Bo L, Xiong C, Wang X, Liu X, Peng L, Yao K
J Clin Endocrinol Metab 2009 Jun;94(6):1910-5. Epub 2009 Mar 17 doi: 10.1210/jc.2008-1846. PMID: 19293262
Hamamah S, Seguin F, Bujan L, Barthelemy C, Mieusset R, Lansac J
Hum Reprod 1998 Jan;13(1):132-5. doi: 10.1093/humrep/13.1.132. PMID: 9512244

Prognosis

Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F
Genet Med 2020 Dec;22(12):1956-1966. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0907-1. PMID: 32741963Free PMC Article
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
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
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

Clinical prediction guides

Jiang Y, Yang X, Li L, Lv X, Wang R, Zhang H, Liu R
Sci Rep 2023 Jul 27;13(1):12164. doi: 10.1038/s41598-023-38947-4. PMID: 37500704Free PMC Article
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
Cerván-Martín M, Bossini-Castillo L, Guzmán-Jiménez A, Rivera-Egea R, Garrido N, Lujan S, Romeu G, Santos-Ribeiro S; IVIRMA Group; Lisbon Clinical Group, Castilla JA, Gonzalvo MDC, Clavero A, Maldonado V, Vicente FJ, Burgos M, Jiménez R, González-Muñoz S, Sánchez-Curbelo J, López-Rodrigo O, Pereira-Caetano I, Marques PI, Carvalho F, Barros A, Bassas L, Seixas S, Gonçalves J, Larriba S, Lopes AM, Palomino-Morales RJ, Carmona FD
Andrology 2022 Oct;10(7):1339-1350. Epub 2022 Jul 8 doi: 10.1111/andr.13221. PMID: 35752927Free PMC Article
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
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

Recent systematic reviews

Chen P, Wang X, Xu C, Xiao H, Zhang WH, Wang XH, Zhang XH
Asian J Androl 2016 Jan-Feb;18(1):96-101. doi: 10.4103/1008-682X.153542. PMID: 25994644Free PMC Article

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