TY - JOUR
T1 - Androgen insensitivity in man
T2 - evidence for genetic heterogeneity
AU - Amrhein, J. A.
AU - Meyer, W. J.
AU - Jones andMigeon, H. W.C.J.
N1 - Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 1976
Y1 - 1976
N2 - The authors have studied ten phenotypically similar patients wtih complete androgen insensitivity. All of the patients tested had significantly elevated serum luteinizing hormone and plasma androgens within or above the normal adult male range. On the basis of specific dihydrotestosterone binding by skin fibroblasts, we identified two subgroups. Six patients from five different families had undetectable dihydrotestosterone binding, while four patients from two families had normal binding activity. Our results indicate that within the clinical syndrome of androgen insensitivity there are at least two distinct genetic variants. These variants may result from allelic mutations of the same X linked gene specifying the dihydrotestosterone receptor or, alternatively, from mutations of separate genes both being essential for androgen action in responsive cells.
AB - The authors have studied ten phenotypically similar patients wtih complete androgen insensitivity. All of the patients tested had significantly elevated serum luteinizing hormone and plasma androgens within or above the normal adult male range. On the basis of specific dihydrotestosterone binding by skin fibroblasts, we identified two subgroups. Six patients from five different families had undetectable dihydrotestosterone binding, while four patients from two families had normal binding activity. Our results indicate that within the clinical syndrome of androgen insensitivity there are at least two distinct genetic variants. These variants may result from allelic mutations of the same X linked gene specifying the dihydrotestosterone receptor or, alternatively, from mutations of separate genes both being essential for androgen action in responsive cells.
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U2 - 10.1073/pnas.73.3.891
DO - 10.1073/pnas.73.3.891
M3 - Article
C2 - 176660
AN - SCOPUS:0017239005
SN - 0027-8424
VL - 73
SP - 891
EP - 894
JO - Proceedings of the National Academy of Sciences of the United States of America
JF - Proceedings of the National Academy of Sciences of the United States of America
IS - 3
ER -