46,XY DSD due to 17β-HSD3 Deficiency and 5α-Reductase Type 2 Deficiency

  • Marlene Inacio
  • Maria Helena P. Sircili
  • Vinicius N. Brito
  • Sorahia Domenice
  • Ari Alves Oliveira-Junior
  • Ivo J.P. Arnhold
  • Francisco D. Tibor
  • Elaine M.F. Costa
  • Berenice B. MendoncaEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)


46,XY DSD can result either from decreased synthesis of testosterone or from the impairment of androgen metabolism or action. We report here clinical, psychological, and therapeutic studies of eleven 46,XY DSD subjects from 8 Brazilian families with 17β-HSD3 deficiency and of thirty 46,XY DSD subjects with 5α-RD2 deficiency from 18 families, all of them registered and raised in the female social sex except for two cases. Among the eleven 46,XY DSD subjects with 17β-HSD3 deficiency, three subjects changed gender identity from female to male at puberty, whereas the remaining eight affected subjects (including two who were castrated prepubertally) have maintained a female social sex. Among the 30 cases of 46,XY DSD due to 5α-RD2 deficiency, 14 changed to male gender role. Fourteen patients maintained the female sexual identification, despite the virilization signs developed at puberty (three of them were castrated in childhood). No correlation was observed between SRD5A2 mutation, T/DHT ratio, and gender role change in these patients. Two variables were significantly associated with the change of male social sex in patients 46,XY female which were registered and non-castrated in childhood: male kids games and self-perceived physical appearance as male or ambiguous during childhood. At diagnosis, the comparison of mean penile length among 46,XY groups showed that 5α-RD2 deficiency group had the smallest penile length. At final evaluation, after surgical and hormonal treatment, mean penile length was also smaller in the 5α-RD2 deficiency group (–5.4 ± 1 SDS) compared to the groups with testosterone production deficiency (p < 0.05). Overall, most of our patients reported satisfaction with the treatment although specific complaints about small penile length, sexual activity, and urinary symptoms were frequent.


Gaza Strip Androgen Insensitivity Syndrome Penile Length HSD17B3 Gene Male Gender Role 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Marlene Inacio
    • 1
  • Maria Helena P. Sircili
    • 2
  • Vinicius N. Brito
    • 2
  • Sorahia Domenice
    • 1
    • 3
  • Ari Alves Oliveira-Junior
    • 4
  • Ivo J.P. Arnhold
    • 1
  • Francisco D. Tibor
    • 5
  • Elaine M.F. Costa
    • 1
    • 3
  • Berenice B. Mendonca
    • 2
    Email author
  1. 1.Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia, Laboratório de Hormonios e Genetica MolecularFaculdade de Medicina, Hospital das Clinicas, Universidade de São PauloSao PauloBrasil
  2. 2.Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, Faculdade de MedicinaUniversidade de Sao PauloSao PauloBrazil
  3. 3.Department of Endocrinology and MetabolismSão Paulo UniversitySao PauloBrazil
  4. 4.University of São PauloSão PauloBrazil
  5. 5.Disciplina de Urologia, Faculdade de MedicinaUniversidade de Sao PauloSao PauloBrazil

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