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. 2007;67(6):268-76.
doi: 10.1159/000098017. Epub 2006 Dec 14.

Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Anne Bachelot  1 , Geneviève Plu-Bureau, Elisabeth Thibaud, Kathleen Laborde, Graziella Pinto, Dinane Samara, Claire Nihoul-Fékété, Frédérique Kuttenn, Michel Polak, Philippe Touraine
Affiliations

Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Anne Bachelot et al. Horm Res. 2007.

Abstract

Aims: Conflicting results exist regarding bone mineral density (BMD), metabolism and reproductive function of adult patients with congenital adrenal hyperplasia (CAH). We evaluated the long-term outcome and the impact of chronic glucocorticoid replacement in these patients.

Methods: Physical characteristics, serum hormone concentrations, BMD and metabolism were studied in 45 consecutive CAH adult patients.

Results: Among the 36 women, only 14 (39%) had regular menses. Among the 27 women with classical CAH, the mean number of surgical reconstructions of virilized genitalia was 2.1 +/- 0.2. Twenty of them (74%) were sexually active. Three men presented with testicular adrenal rest tumors. Twenty-five patients (55%) had decreased BMD at the femoral neck and/or at the lumbar spine. BMI was correlated with the BMD T-score at the femoral neck (p < 0.001) and at the lumbar spine (p < 0.01). Hydrocortisone dose was negatively correlated with the BMD T-score at the femoral neck (p = 0.04). Subjects with osteopenia had a significantly lower BMI and received higher hydrocortisone dose than those with normal BMD. Overweight was found in 21 patients (47%). There was a significantly positive correlation between HOMA and BMI (p < 0.001), and between HOMA and 17-OHP levels (p = 0.016).

Conclusions: Adult patients with CAH treated with long-term glucocorticoids are at risk for decreased BMD, increased BMI, and disturbed reproductive function.

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