Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5896481 | Best Practice & Research Clinical Endocrinology & Metabolism | 2015 | 12 Pages |
Abstract
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.
Keywords
DHTPartial androgen insensitivity syndromeAREsPKCAF2Disorder of sex development (DSD)pKaAISEMSBMDCAIsHRTLBDDSDDBDBF3MAPKDisorder of sex developmentMAISactivation function 2Bone mineral densityDNA binding domainligand binding domainDihydrotestosteroneComplete androgen insensitivity syndromeandrogen insensitivity syndromeAndrogen response elementsManagementfollicle-stimulating hormonehormone replacement therapyFSHprotein kinase AProtein kinase Cmitogen-activated protein kinasePAISAndrogen Receptor
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Authors
Nigel P. PhD, Rieko MD, Trevor Bunch, Ieuan A. MD,