Genetic Conditions > 5-alpha reductase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on 5-alpha reductase deficiency.

Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, Gokalp D. A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. Urology. 2005 Aug;66(2):407-10. PubMed citation
Baldinotti F, Majore S, Fogli A, Marrocco G, Ghirri P, Vuerich M, Tumini S, Boscherini B, Vetri M, Scommegna S, Rinaldi R, Simi P, Grammatico P. Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency. J Androl. 2008 Jan-Feb;29(1):20-8. Epub 2007 Jul 3. PubMed citation
Cai LQ, Zhu YS, Katz MD, Herrera C, Baéz J, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J. 5 alpha-reductase-2 gene mutations in the Dominican Republic. J Clin Endocrinol Metab. 1996 May;81(5):1730-5. PubMed citation
Cohen-Kettenis PT. Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav. 2005 Aug;34(4):399-410. Review. PubMed citation
Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, Stuchi-Perez EG, Guerra-Junior G. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. J Mol Med (Berl). 2005 Jul;83(7):569-76. Epub 2005 Mar 16. PubMed citation
Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, Farkas A, Goldfarb H, Ohana N, Hiort O. Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. J Clin Endocrinol Metab. 1996 Aug;81(8):2821-7. PubMed citation
Sinnecker GH, Hiort O, Dibbelt L, Albers N, Dörr HG, Hauss H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet. 1996 May 3;63(1):223-30. PubMed citation
Sultan C, Lumbroso S, Paris F, Jeandel C, Terouanne B, Belon C, Audran F, Poujol N, Georget V, Gobinet J, Jalaguier S, Auzou G, Nicolas JC. Disorders of androgen action. Semin Reprod Med. 2002 Aug;20(3):217-28. Review. PubMed citation
Wilson JD, Griffin JE, Russell DW. Steroid 5 alpha-reductase 2 deficiency. Endocr Rev. 1993 Oct;14(5):577-93. Review. PubMed citation


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