Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Arya S, Tiwari A, Lila AR, Sarathi V, Bhandare VV, Kumbhar BV, Rai K, Kunwar A, Thakkar H, Thakkar K, Memon SS, Patil V, Khadilkar K, Jadhav SS, Shah NS, Bandgar T.
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Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
Berra M, Williams EL, Muroni B, Creighton SM, Honour JW, Rumsby G, Conway GS.
Eur J Endocrinol. 2011 Jun;164(6):1019-25. doi: 10.1530/EJE-10-0930. Epub 2011 Mar 14.
5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.
Cocchetti C, Ristori J, Mazzoli F, Prunas A, Bertelloni S, Magini A, Vignozzi L, Maggi M, Fisher AD.
J Endocrinol Invest. 2020 Aug;43(8):1131-1136. doi: 10.1007/s40618-020-01193-w. Epub 2020 Feb 8.
Poseidon and Caeneus: a case of pubertal gender inversion in Greek mythology.
Stamou MI, Armeni AK, Kazantzidis G, Georgopoulos NA, Markantes GK.
Hormones (Athens). 2024 Jun;23(2):351-354. doi: 10.1007/s42000-023-00524-9. Epub 2024 Jan 16.
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
Eren E, Edgünlü T, Asut E, Karakaş Çelik S.
J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):218-23. doi: 10.4274/jcrpe.2495. Epub 2016 Jan 12.
Molecular genetics of disorders of sex development in a highly consanguineous population.
Alswailem M, Alsagheir A, Abbas BB, Alzahrani O, Alzahrani AS.
J Steroid Biochem Mol Biol. 2021 Apr;208:105736. doi: 10.1016/j.jsbmb.2020.105736. Epub 2020 Aug 9.
46 XY disorder of sex development (DSD) due to 5 alpha (SRD5A2) deficiency - Experience from a multidisciplinary Pediatric Gender Clinic.
Bose S, Das K, George B, Raman V, Shubha AM, Mahadevappa K, Kumar P, Bantwal G, Ayyar V, Deb M.
J Pediatr Urol. 2022 Aug;18(4):492.e1-492.e8. doi: 10.1016/j.jpurol.2022.05.011. Epub 2022 May 19.
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.
Int J Mol Sci. 2011;12(12):9471-80. doi: 10.3390/ijms12129471. Epub 2011 Dec 19.
Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.
Mao Y, Huang JM, Chen-Zhang YW, Lin H, Zhang YH, Jiang JY, Wu XM, Liao L, Tang YM, Yang JY.
Asian J Androl. 2024 Sep 24. doi: 10.4103/aja202469. Online ahead of print.
Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient.
Parlak M, Durmaz E, Gursoy S, Bircan I, Akcurin S.
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