Journal
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume 25, Issue 11-12, Pages 1145-1151Publisher
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpem-2012-0135
Keywords
androgen insensitivity syndrome; androgen receptor; CAIS; disorders of sexual development; Mullerian duct remnants; Mullerian tissue; novel mutation; pubic hair; Sertoli cell adenoma
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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 Mulerian 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.
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