Fertility and Sterility
Volume 90, Issue 5 , Pages 2015.e11-2015.e15 , November 2008

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism

  • Taninee Sahakitrungruang, M.D.

      Affiliations

    • Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    • ,
  • Suttipong Wacharasindhu, M.D.

      Affiliations

    • Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    • ,
  • Patra Yeetong, B.Sc.

      Affiliations

    • Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    • ,
  • Thiti Snabboon, M.D.

      Affiliations

    • Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    • ,
  • Kanya Suphapeetiporn, M.D., Ph.D.

      Affiliations

    • Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    • Corresponding Author InformationReprint requests: Kanya Suphapeetiporn, M.D., Ph.D., Division of Medical Genetics and Metabolism, Department of Pediatrics, Sor Kor Building 11th floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand (FAX: 011-662-256-4911).
    • ,
  • Vorasuk Shotelersuk, M.D.

      Affiliations

    • Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

Received 11 November 2007 ,Revised 21 December 2007 ,Accepted 2 January 2008.

References 

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  2. Sinnecker GH, Hiort O, Dibbelt L, Albers N, Dorr HG, Hauss H, et al. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet. 1996;63:223–230
  3. Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, et al. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest. 1992;90:799–809
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  5. Vilchis F, Mendez JP, Canto P, Lieberman E, Chavez B. Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. Clin Endocrinol. 2000;52:383–387
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  8. Sasaki G, Nakagawa K, Hashiguchi A, Hasegawa T, Ogata T, Murai M. Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency. J Urol. 2003;169:1080–1081
  9. Canto P, Vilchis F, Chavez B, Mutchinick O, Imperato-McGinley J, Perez-Palacios G, et al. Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency. Clin Endocrinol. 1997;46:155–160
  10. Wigley WC, Prihoda JS, Mowszowicz I, Mendonca BB, New MI, Wilson JD, et al. Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme. Biochemistry. 1994;33:1265–1270
  11. Mendonca BB, Inacio M, Costa EM, Arnhold IJ, Silva FA, Nicolau W, et al. Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine. 1996;75:64–76
  12. Ferraz LF, Mathias Baptista MT, Maciel-Guerra AT, Junior GG, Hackel C. New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency. Am J Med Genet. 1999;87:221–225
  13. Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, et al. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. J Mol Med. 2005;83:569–576
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  17. Fernandez-Cancio M, Rodo J, Andaluz P, Martinez de Osaba MJ, Rodriguez-Hierro F, Esteban C, et al. Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. Hormone Res. 2004;62:259–264
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  19. Steger K, Rey R, Louis F, Kliesch S, Behre HM, Nieschlag E, et al. Reversion of the differentiated phenotype and maturation block in Sertoli cells in pathological human testis. Hum Reprod. 1999;14:136–143
  20. Nordenskjold A, Ivarsson SA. Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab. 1998;83:3236–3238
  21. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Childhood. 2006;91:554–563

 Supported by the Development Grants for New Faculty/Researchers, the Research Unit Grant from Chulalongkorn University, and the Thailand Research Fund.

PII: S0015-0282(08)00013-7

doi: 10.1016/j.fertnstert.2008.01.019

Fertility and Sterility
Volume 90, Issue 5 , Pages 2015.e11-2015.e15 , November 2008

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