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

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

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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
Volume25
Issue number11-12
DOIs
StatePublished - Dec 2012

Fingerprint

Androgen-Insensitivity Syndrome
Androgen Receptors
Mutation
Sertoli Cells
Isoleucine
Amenorrhea
Adenoma
Bone Density
Hair
Serine
Exons
Ligands
Genes

Keywords

  • 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

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

Cite this

A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. / Chin, Vivian L.; Sheffer-Babila, Sharone; Lee, Ting A.; Tanaka, Kathryn E.; Zhou, Ping.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 25, No. 11-12, 12.2012, p. 1145-1151.

Research output: Contribution to journalArticle

Chin, Vivian L. ; Sheffer-Babila, Sharone ; Lee, Ting A. ; Tanaka, Kathryn E. ; Zhou, Ping. / A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. In: Journal of Pediatric Endocrinology and Metabolism. 2012 ; Vol. 25, No. 11-12. pp. 1145-1151.
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