A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation

Vivian L. Chin, Sharone Sheffer-Babila, Ting A. Lee, Kathryn Tanaka, Ping Zhou

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel missense androgen receptor gene mutation resulting in serine-to-isoleucine change at position 703 in exon 4 in the ligand-binding domain. The interesting features of this case include a persistence of Müllerian derivatives, Sertoli cell adenoma, Tanner III pubic hair, and a normal bone mineral density. These features are not typically described in CAIS. This novel mutation associated with a unique clinical presentation serves to significantly enrich the literature on this rare and fascinating disorder of androgen insensitivity syndrome.

Original languageEnglish (US)
Pages (from-to)1145-1151
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number11-12
StatePublished - Dec 2012


  • Androgen insensitivity syndrome
  • Androgen receptor
  • CAIS
  • Disorders of sexual development
  • Müllerian duct remnants
  • Müllerian tissue
  • Novel mutation
  • Pubic hair
  • Sertoli cell adenoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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