In:
The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society, Vol. 84, No. 5 ( 1999-05-01), p. 1751-1753
Abstract:
We describe a novel mutation in exon 1 of the androgen receptor gene in a patient with complete androgen insensitivity (CAIS). Endocrine findings were typical for androgen insensitivity (testosterone serum levels in the upper limit of normal males and increased LH serum concentrations). Biochemical investigations in cultured genital skin fibroblasts of the patient showed a normal 5α-reductase activity but a complete absence of androgen binding. Western blot analysis revealed no detectable protein product. Sequence analysis of the entire coding region of the androgen receptor gene resulted in the identification of a 2-bp deletion in codon 472, causing frameshift and introduction of a premature stop codon 27 codons downstream of the mutation.
Type of Medium:
Online Resource
ISSN:
0021-972X
,
1945-7197
DOI:
10.1210/jcem.84.5.5664
Language:
English
Publisher:
The Endocrine Society
Publication Date:
1999
detail.hit.zdb_id:
2026217-6
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