title: A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation.
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.
authors: Department of Pediatrics, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
authors: Vivian L
authors: VL
authors: Chin
authors: Sharone
authors: S
authors: Sheffer-Babila
authors: Ting A
authors: TA
authors: Lee
authors: Kathryn
authors: K
authors: Tanaka
authors: Ping
authors: P
authors: Zhou
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000473:pathology; D010375:Pedigree; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D012707:Sertoli Cell Tumor / Q000473:pathology
chemical_list: D011944:Receptors, Androgen