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46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome

  • Ivo J.P. ArnholdEmail author
  • Karla Melo
  • Elaine M.F. Costa
  • Debora Danilovic
  • Marlene Inacio
  • Sorahia Domenice
  • Berenice B. Mendonca
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

Androgen insensitivity syndrome (AIS) is a rare X-linked disorder in which 46,XY subjects have complete (CAIS) or partial (PAIS) impairment of androgen action due to abnormalities of the androgen receptor (AR). We studied 25 Brazilian subjects with AIS confirmed by identification of mutations in the AR and concluded that (1) identification of mutations in the AR is essential to classify patients with 46,XY DSD as PAIS; (2) family history and gynecomastia were useful to select patients for genetic studies; (3) gynecomastia developed in CAIS due to unopposed effect of normal estrogen levels; (4) absence of axillary hair was a better indicator of CAIS than absence of pubic hair; (5) serum LH and LH × T product were elevated in all pubertal patients, while testosterone was normal or elevated and serum FSH normal in most patients; (6) phallic size and its response to high-dose testosterone therapy were usually subnormal, but variable in PAIS; (7) in patients with female social sex, vaginal dilation was useful to obtain an adequate length for sexual intercourse; (8) all PAIS raised as girls as well as those raised as boys maintained gender assigned before puberty, despite overlap in phallic size at puberty; (9) adult height was intermediate between normal males and females; and (10) low spine BMD before gonadectomy and even in estrogen-compliant CAIS may reflect androgen resistance at the bone level.

Keywords

Androgen Receptor Adult Height Pubic Hair Androgen Receptor Gene Androgen Action 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Quigley CA, De Bellis A, Marschke KB et al (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16: 271–322PubMedGoogle Scholar
  2. 2.
    Melo KF, Mendonca BB, Billerbeck AE et al (2003) Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 88: 3241–3250PubMedCrossRefGoogle Scholar
  3. 3.
    Melo KF, Latronico AC, Costa EM et al (1999) A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome. Hum Mutat 14: 353PubMedCrossRefGoogle Scholar
  4. 4.
    Danilovic DL, Correa PH, Costa EM et al (2007) Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene. Osteoporos Int 18: 369–374PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Ivo J.P. Arnhold
    • 1
    Email author
  • Karla Melo
    • 1
  • Elaine M.F. Costa
    • 1
    • 2
  • Debora Danilovic
    • 1
  • Marlene Inacio
    • 1
  • Sorahia Domenice
    • 1
    • 2
  • Berenice B. Mendonca
    • 1
    • 2
  1. 1.Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia, Laboratório de Hormonios e Genetica Molecular, Faculdade de Medicina, Hospital das Clinicas, Universidade de São PauloSao PauloBrasil
  2. 2.Department of Endocrinology and MetabolismSão Paulo UniversitySao PauloBrasil

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