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 language | English (US) |
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Pages (from-to) | 1145-1151 |
Number of pages | 7 |
Journal | Journal of Pediatric Endocrinology and Metabolism |
Volume | 25 |
Issue number | 11-12 |
DOIs | |
State | Published - Dec 2012 |
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
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology