Androgen receptor cag repeat length in relation to phenotype among females with nonclassical 21-hydroxylase deficiency

S. Ben-Shachar, I. Ayalon, H. Reznik-Wolf, Y. Tenenbaum-Rakover, N. Zuckerman-Levin, O. Cohen, A. Lifshitz, Merav Fraenkel, Y. Toledano, V. Roash, I. Koren, D. Modan-Moses, D. Hirsch, A. Schachter-Davidov, S. Israel, O. Eyal, N. Weintrob

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    10 Scopus citations

    Abstract

    Nonclassical 21-hydroxylase deficiency (NC21OHD) manifests with various degrees of post natal virilization. The length of CAG repeats of the androgen receptor gene (AR) is inversely correlated to activity of the human androgen receptor (AR) and affects phenotype of several androgen-dependent disorders. The aim of the study was to investigate the associations between CAG repeat length and the phenotype of females with NC21OHD. CAG repeat length and AR inactivation were assessed in females with NC21OHD, and related to their clinical presentation. CAG repeat length and AR inactivation were assessed in 119 females with NC21OHD. Biallelic mean (BAM) of the CAG repeat length and the weighted BAM (WBAM) were related to various clinical parameters. Age at diagnosis and age of menarche positively correlated with BAM (r=0.22, p=0.02, and r=0.23, p=0.01, respectively). A shorter (<25) BAM was associated with younger age at diagnosis (14.8 vs. 21.4 years, p<0.01), at adrenarche (8.1 vs. 10.2 years, p<0.01) and gonadarche (9.9 vs. 11.2 years, p<0.01), and higher corrected height standard deviation score at diagnosis (0.77 vs. 0.15, p=0.01). Precocious pubarche and precocious puberty were more frequent in these with the shorter BAM. Results of WBAM were similar. The CAG repeat length of the AR gene contributes to the clinical diversity of the phenotype in females with NC21OHD.

    Original languageEnglish
    Pages (from-to)491-496
    Number of pages6
    JournalHormone and Metabolic Research
    Volume47
    Issue number7
    DOIs
    StatePublished - 17 Sep 2014

    Keywords

    • AR
    • NC21OHD
    • congenital adrenal hyperplasia

    ASJC Scopus subject areas

    • Endocrinology, Diabetes and Metabolism
    • Biochemistry
    • Endocrinology
    • Clinical Biochemistry
    • Biochemistry, medical

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