Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor

The Journal of Clinical Endocrinology and Metabolism
W WeidemannH U Schweikert

Abstract

Supplemental androgen therapy has enhanced virilization in only a few patients with partial androgen insensitivity (PAIS). We herein report on virilization in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor. At the age of 19 yr, the patient sought medical attention because of undervirilization. Endocrine findings were typical for androgen insensitivity, but 5alpha-reductase activity and androgen binding characteristics in fibroblasts cultured from genital skin were normal. In an attempt to improve virilization, high dose testosterone enanthate treatment (250 mg by i.m. injection once a week) was begun. After 3.5 yr of this treatment, marked promotion of virilization was achieved, i.e. lowering of voice, male pattern secondary hair distribution, marked growth of beard and coarse body hair, increase in phallic size, increase in bone mineral density, and decrease in mammary gland size. In addition, serum lipid levels were not affected. To our knowledge this is the first documentation of successful treatment in a patient with PAIS and a point mutation in the DNA-binding domain of the androgen receptor.

Citations

Apr 21, 2006·Archives of Disease in Childhood·I A HughesUNKNOWN ESPE Consensus Group
Sep 21, 2013·Indian Journal of Pediatrics·Vaman V Khadilkar, Supriya Phanse-Gupte
Mar 21, 2001·The Journal of Urology·A L BoehmerS L Drop
Aug 30, 2011·Molecular and Cellular Endocrinology·Jarmo Jääskeläinen
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Ralf WernerOlaf Hiort

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