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Androgen resistance.
Best Pract Res Clin Endocrinol Metab. 2006 Dec; 20(4):577-98.BP

Abstract

Androgen resistance causes the androgen insensitivity syndrome in its variant forms and is a paradigm of clinical syndromes associated with hormone resistance. In its complete form, the syndrome causes XY sex reversal and a female phenotype. Partial resistance to androgens is a common cause of ambiguous genitalia of the newborn, but a similar phenotype may result from several other conditions, including defects in testis determination and androgen biosynthesis. The biological actions of androgens are mediated by a single intracellular androgen receptor encoded by a gene on the long arm of the X chromosome. Mutations in this gene result in varying degrees of androgen receptor dysfunction and phenotypes that often show poor concordance with the genotype. Functional characterization and three-dimensional modelling of novel mutant receptors has been informative in understanding the mechanism of androgen action. Management issues in syndromes of androgen insensitivity include decisions on sex assignment, timing of gonadectomy in relation to tumour risk, and genetic and psychological counselling.

Authors+Show Affiliations

Department of Paediatrics, University of Cambridge, Box 116, Level 8, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK. iahl000@cam.ac.ukNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

17161333

Citation

Hughes, Ieuan A., and Asma Deeb. "Androgen Resistance." Best Practice & Research. Clinical Endocrinology & Metabolism, vol. 20, no. 4, 2006, pp. 577-98.
Hughes IA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006;20(4):577-98.
Hughes, I. A., & Deeb, A. (2006). Androgen resistance. Best Practice & Research. Clinical Endocrinology & Metabolism, 20(4), 577-98.
Hughes IA, Deeb A. Androgen Resistance. Best Pract Res Clin Endocrinol Metab. 2006;20(4):577-98. PubMed PMID: 17161333.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Androgen resistance. AU - Hughes,Ieuan A, AU - Deeb,Asma, PY - 2006/12/13/pubmed PY - 2007/2/7/medline PY - 2006/12/13/entrez SP - 577 EP - 98 JF - Best practice & research. Clinical endocrinology & metabolism JO - Best Pract Res Clin Endocrinol Metab VL - 20 IS - 4 N2 - Androgen resistance causes the androgen insensitivity syndrome in its variant forms and is a paradigm of clinical syndromes associated with hormone resistance. In its complete form, the syndrome causes XY sex reversal and a female phenotype. Partial resistance to androgens is a common cause of ambiguous genitalia of the newborn, but a similar phenotype may result from several other conditions, including defects in testis determination and androgen biosynthesis. The biological actions of androgens are mediated by a single intracellular androgen receptor encoded by a gene on the long arm of the X chromosome. Mutations in this gene result in varying degrees of androgen receptor dysfunction and phenotypes that often show poor concordance with the genotype. Functional characterization and three-dimensional modelling of novel mutant receptors has been informative in understanding the mechanism of androgen action. Management issues in syndromes of androgen insensitivity include decisions on sex assignment, timing of gonadectomy in relation to tumour risk, and genetic and psychological counselling. SN - 1521-690X UR - https://www.unboundmedicine.com/medline/citation/17161333/Androgen_resistance_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1521-690X(06)00087-X DB - PRIME DP - Unbound Medicine ER -