Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

摘要

There have been only a few studies on adrenarche in girls with classic congenital adrenal hyperplasia (CAH) showing that dehydroepiandrosterone sulfate (DHEAS) levels did not rise at the physiological age of adrenarche. OBJECTIVE: Longitudinal analysis of serum DHEAS levels and Tanner stages in CAH children. DESIGN: We studied 98 CAH patients (52 females), aged between 1 month and 18.0 years. All patients had genetically proven classic CAH and received steroid substitution therapy. RESULTS: Serum DHEAS levels did not differ between CAH children and healthy children from the age of 1 year until 5-6 years. Beginning at the age of 7-8 years, there was a continuous but blunted increase in DHEAS levels in CAH boys and girls compared to healthy children. There was no correlation of DHEAS levels with the genotype, glucocorticoid dosage, auxological data, or quality of metabolic control. Pubarche (PH2) as well as gonadarche (G2) and thelarche (B2) occurred significantly earlier in CAH boys and girls than in the reference group, but timing of menarche was normal. CONCLUSIONS: Pubarche and adrenarche are dissociated in classic CAH: earlier pubarche, gonadarche and thelarche, respectively, in both sexes contrast with the absence of typical adrenarche.