title: Androgen insensitivity syndrome.
abstract: Androgen insensitivity syndrome (AIS) results from androgen receptor dysfunction and is a common cause of disorder of sex development. The AIS phenotype largely depends on the degree of residual androgen receptor (AR) activity. This review describes the molecular action of androgens and the range of androgen receptor gene mutations, essential knowledge to understand the pathogenesis of the complete and partial forms of this syndrome. A multidisciplinary approach is recommended for clinical management from infancy through to adulthood. Hormone replacement therapy is needed following gonadectomy. Patients who choose to retain the gonads are at risk of developing germ cell tumors for which sensitive circulating tumor markers may soon become available. Whilst the contribution of AR dysfunction to complete AIS is well understood, the involvement of the AR and associated proteins as contributors to partial AIS is an area of active research. Disorders of sex development such as AIS which are related to AR dysfunction offer a breadth of manifestations for the clinician to manage and opportunities for further research on the mechanism of androgen action.
authors: Cancer Biology and Translational Research, Faculty of Medicine and Health Sciences, School of Veterinary Medicine and Science, University of Nottingham, UK.
authors: Nigel P
authors: NP
authors: Mongan
authors: Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, UK.
authors: Rieko
authors: R
authors: Tadokoro-Cuccaro
authors: Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, UK.
authors: Trevor
authors: T
authors: Bunch
authors: Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge, UK. Electronic address: iah1000@medschl.cam.ac.uk.
authors: Ieuan A
authors: IA
authors: Hughes
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D000728:Androgens / Q000378:metabolism / Q000627:therapeutic use; D000818:Animals; D006801:Humans; D008297:Male; D009154:Mutation; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
chemical_list: D000728:Androgens; D011944:Receptors, Androgen
keywords: androgen receptor; disorder of sex development (DSD); gonadal tumor; hormone replacement therapy; management