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Spermatogenic failure 64(SPGF64)

MedGen UID:
1794272
Concept ID:
C5562062
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 64; SPGF64
 
Gene (location): FBXO43 (8q22.2)
 
Monarch Initiative: MONDO:0030522
OMIM®: 619696

Definition

Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage, whereas others show low sperm counts and reduced progressive motility, and spermatozoa have enlarged amorphous heads (Ma et al., 2019; Wu et al., 2022). Mutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (see OOMD12, 619697). For a general phenotypic description and 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.
Oligospermia
MedGen UID:
18162
Concept ID:
C0028960
Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Abnormal sperm head morphology
MedGen UID:
868308
Concept ID:
C4022702
Finding
A structural abnormality of the sperm head.
Reduced progressive sperm motility
MedGen UID:
1730031
Concept ID:
C5436680
Finding
A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248
Lu C, Wang Y, Zhang F, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X
Hum Reprod 2013 Sep;28(9):2440-9. Epub 2013 May 21 doi: 10.1093/humrep/det234. PMID: 23696539
Hinz S, Magheli A, Weikert S, Schulze W, Krause H, Schrader M, Miller K, Kempkensteffen C
World J Urol 2010 Oct;28(5):631-5. Epub 2009 Dec 31 doi: 10.1007/s00345-009-0498-6. PMID: 20043168
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

Diagnosis

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
Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
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
Takeuchi T, Neri QV, Palermo GD
Ann N Y Acad Sci 2008 Apr;1127:64-6. doi: 10.1196/annals.1434.016. PMID: 18443331

Therapy

Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamatani N, Yoshimura Y, Ogata T
Hum Reprod 2007 May;22(5):1279-84. Epub 2007 Feb 5 doi: 10.1093/humrep/del513. PMID: 17283037

Prognosis

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

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
Xie S, Ma Y, Liu Y, Tao D, Wang Z, Yang Y
Andrology 2024 Mar;12(3):561-569. Epub 2023 Aug 18 doi: 10.1111/andr.13510. PMID: 37594248
Lardone MC, Marengo A, Parada-Bustamante A, Cifuentes L, Piottante A, Ebensperger M, Valdevenito R, Castro A
J Assist Reprod Genet 2013 Apr;30(4):531-8. Epub 2013 Feb 8 doi: 10.1007/s10815-013-9950-z. PMID: 23388839Free PMC Article
Kumari A, Yadav SK, Ali S
PLoS One 2012;7(7):e41488. Epub 2012 Jul 23 doi: 10.1371/journal.pone.0041488. PMID: 22844483Free PMC Article
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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