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Summary

OBJECTIVE Previous reports of endocrinological profiles in children presenting with premature adrenarche have not shown consistent abnormalities. We therefore aimed to review the clinical and biochemical aspects of a large number of patients presenting with premature adrenarche without virilization and determine the relation between clinical and biochemical characteristics and the frequency of adrenal steroid disorders.

DESIGN AND PATIENTS Eighty-eight patients presenting with adrenarche without virilization during 1985-1992 were retrospectively reviewed. There were 72 girls and 16 boys. All were normotensive and had either prepubertal breasts or testes < 4 ml. in patients with high adrenal androgen levels, adrenal tumours had been excluded by either adrenal ultrasound or CT scan.

MEASUREMENT We recorded clinical manifestations, auxological data, bone age, biochemical results including basal 17OH-progesterone (b17OHP), dehydro-epiandrosterone sulphate (DHEAS), androstenedione (Δ4A), testosterone, cortisol and stimulated 170HP and cortisol. ACTH stimulation tests (using soluble Synacthen 250 μg intramuscularly and collecting blood at 0, 30 and 60 minutes) were performed when clinically Indicated. 17OH-Pregnenoione (17OHPreg) was also measured during ACTH stimulation tests in 13 individuals to look for abnormalities of 3 β-hydroxysteroid dehydrogenase (3β-HSD).

RESULTS The age of onset ranged from 3 to 9·5 years (mean 6·8 ± 1·3). There were no significant differences by sex for height SDS, weight SDS or % ideal body weight, but bone age advancement was greater in males (P < 0·02). The most common presenting clinical manifestation was premature appearance of pubic hair in 93·8%, the other 6·2% presenting with body Odour, acne and/or hirsutism.

Twelve patients had b17OHP > 6 nmol/l of whom 5 were diagnosed as having congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency after ACTH stimulation tests. A further 33 patients who had b17OHP < 6 nmol/l had normal 17OHP and cortisol responses to ACTH stimulation. Patients, after excluding those with CAH, were divided on the basis of their DHEAS levels into prepubertal (< 1·5 μmol/l), pubertal (1·5-6 μmol/l) and above pubertal range (> 6 μmol/l). The 8 patients with DHEAS values above the pubertal range were described as having ‘exaggerated adrenarche’. There were no significant clinical differences between these 3 groups, but Significant differences were found for bone age advancement and the steroids, b17OHP, Δ4A and testosterone. There was a strong correlation between DHEAS and Δ4A(r= 0·623, P < 0·001). The ‘exaggerated adrenarche’ group had higher 17 OHPreg/17OHP ratios at 60 minutes after stimulation but these were not diagnostic for 3β-HSD deficiency.

CONCLUSION The value of assessing basal steroids in children presenting with premature adrenarche Is demonstrated in this series with 5·7% being diagnosed with 21-hydroxyiase deficiency and 9·1% with ‘exaggerated adrenarche’. No relation was found between adrenal steroids and clinical features except for the acceleration of bone age. The relation between ‘exaggerated adrenarche’ and future ovarian hyperandrogenism needs further evaluation.