Androgen insensitivity syndrome.
Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor--a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure.
Department of Paediatrics, University of Cambridge, Cambridge, UK. iah1000@cam.ac.uk
Ieuan A
IA
Hughes
John D
JD
Davies
Trevor I
TI
Bunch
Vickie
V
Pasterski
Kiki
K
Mastroyannopoulou
Jane
J
MacDougall
D013734:Androgen-Insensitivity Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000728:Androgens / Q000502:physiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016335:Zinc Fingers / Q000235:genetics
D000728:Androgens