Article
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.
Clinical endocrinology - 1 Feb 2008
Rocha Rosana O, Billerbeck Ana Elisa C, Pinto Emília M, Melo Karla F S, Lin Chin J, Longui Carlos A, Mendonca Berenice B, Bachega Tânia A S S
Abstract excerpt
BACKGROUND: Women with 21-hydroxylase deficiency present much variability in external genitalia virilization, even among those with similar impairments of 21-hydroxylase (21OH) activity. OBJECTIVE: To evaluate if the number of CAG (nCAG) repeats of the androgen receptor gene influences the degree of external genitalia virilization in women with CYP21A2 mutations, grouped according to impairment of 21OH activity....
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