Abstract
Recent studies have described mild adrenal enzymatic defects in patients presenting with precocious pubarche. In order to identify these defects we have evaluated basal and ACTH — (25 IU iv) stimulated serum adrenal steroid levels in 19 girls, 2 - to 8.3-year-old, with precocius pubarche (pubic hair Tanner II–III). Two patients had clitorial enlargement. Bone age was moderatly advanced in 10 patients and 2 to 3.7 yr in four others. Four patients had high basal serum levels of 17-hydroxyprogesterone (17OHP) (525+202 ng/dl, mean +SD), compatible with the diagnosis of nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCCAH-21OH), which was confirmed by an increased response of 17OHP to ACTH (3425±953 ng/dl). Fifteen patients had moderatly elevated basal 17OHP levels (56+38 ng/dl) but a normal 17OHP response (191±71 ng/dl) to ACTH, compatible with the diagnosis of idiopathic precocious pubarche (IPP). The Cortisol response to ACTH was normal in both groups. Basal values of DHEA-S were 651 ±256 and 506+462 ng/ml and of DHEA 380±24 ng/dl and 205±102 ng/dl, in NCCAH- 21OH and IPP, respectively. We conclude that: i) clinical findings and baseline levels of DHEA-S and DHEA in IPP can be indistinguishable from the late onset 21 hydroxylase deficiency; ii) baseline levels of 17OHP are sufficient for the diagnosis of NCCAH-21OH; iii) the ACTH stimulation test is indicated only when baseline levels of 17OHP are moderately elevated (100–300 ng/dl).
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Vasconcelos Leite, M., Mendonça, B.B., Arnhold, I.J.P. et al. Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche. J Endocrinol Invest 14, 11–15 (1991). https://doi.org/10.1007/BF03350247
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DOI: https://doi.org/10.1007/BF03350247