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Spermatogenic failure 95

MedGen UID:
1052747
Concept ID:
CN378155
Disease or Syndrome
Synonym: spermatogenic failure 95
 
Gene (location): CFAP57 (1p34.2)
 
Monarch Initiative: MONDO:0975747
OMIM®: 620917

Definition

Spermatogenic failure-95 (SPGF95) is an autosomal recessive disorder characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella, resulting in markedly reduced progressive motility (Ma et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Professional guidelines

PubMed

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

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
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
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
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565
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

Diagnosis

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

Therapy

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
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565
Turner L, Conway AJ, Jimenez M, Liu PY, Forbes E, McLachlan RI, Handelsman DJ
J Clin Endocrinol Metab 2003 Oct;88(10):4659-67. doi: 10.1210/jc.2003-030107. PMID: 14557437

Prognosis

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
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
Saha C, Polash AH, Islam MT, Shafrin F
Interdiscip Sci 2013 Dec;5(4):258-69. Epub 2014 Jan 10 doi: 10.1007/s12539-013-0178-5. PMID: 24402818
Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorenço D, Mandelbaum J, Siffroi JP, McElreavey K
Fertil Steril 2009 Dec;92(6):1924-33. Epub 2008 Nov 6 doi: 10.1016/j.fertnstert.2008.08.135. PMID: 18990391

Clinical prediction guides

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
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
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
van Mens TE, Joensen UN, Bochdanovits Z, Takizawa A, Peter J, Jørgensen N, Szecsi PB, Meijers JCM, Weiler H, Rajpert-De Meyts E, Repping S, Middeldorp S
Hum Reprod 2017 Nov 1;32(11):2332-2339. doi: 10.1093/humrep/dex287. PMID: 28927238
Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C
Hum Genet 2008 Nov;124(4):399-410. Epub 2008 Sep 21 doi: 10.1007/s00439-008-0561-1. PMID: 18807255

Recent systematic reviews

Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565
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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