Adrenal steroidogenic defects in children with precocious pubarche
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P del Balzo1, P Borrelli, P Cambiaso
1Department of Endocrinology, Bambino Gesú Children's Hospital, IRCCS, Rome, Italy.
Insights
Nonclassical congenital adrenal hyperplasia (NCAH) may occur in children with precocious pubarche (PP). ACTH testing is recommended for these children to identify mild adrenal enzymatic defects.
Area of Science:
- Pediatric Endocrinology
- Adrenal Disorders
- Genetics
Background:
- Precocious pubarche (PP) in children raises questions about underlying adrenal conditions.
- Nonclassical congenital adrenal hyperplasia (NCAH) is a debated cause of PP.
- Evaluating adrenal steroid response to ACTH is crucial for diagnosis.
Purpose of the Study:
- To investigate the adrenal steroid response to ACTH in children with precocious pubarche.
- To determine the prevalence of nonclassical congenital adrenal hyperplasia in this cohort.
- To assess the utility of ACTH stimulation testing in diagnosing adrenal disorders in PP.
Main Methods:
- Studied 26 Italian children (0.45–8.8 years) with precocious pubarche (PP) without virilization.
- Administered ACTH (Synacthen) stimulation test (0.25 mg i.v. bolus).
- Compared results with prepubertal and early pubertal control groups.
Main Results:
- Two patients (7.7%) were diagnosed with NCAH (21-hydroxylase and 3 beta-hydroxysteroid-dehydrogenase deficiencies).
- Idiopathic PP group showed elevated adrenal androgens compared to prepubertal controls.
- Adrenal androgen levels in idiopathic PP were similar to early pubertal controls.
Conclusions:
- Mild adrenal enzymatic defects, indicative of NCAH, can occur in children with precocious pubarche.
- ACTH stimulation testing is a valuable tool for identifying these subtle adrenal abnormalities.
- This supports the recommendation for ACTH testing in children presenting with precocious pubarche.
Abstract:
The occurrence of nonclassical congenital adrenal hyperplasia among children with precocious pubarche is still a matter of debate. We studied the adrenal steroid response to ACTH stimulus (Synacthen, 0.25 mg i.v. bolus) in 26 Italian children (5 boys, 21 girls) who had presented pubic hair, without other signs of virilization, at ages ranging between 0.45 and 8.8 years. The control groups comprised 8 prepubertal children (5 boys, 3 girls) and 12 children at Tanner stage 2 for pubic hair development (1 boy, 11 girls). Two patients were diagnosed as having nonclassical congenital adrenal hyperplasia: 1 due to 21-hydroxylase deficiency, the other due to 3 beta-hydroxysteroid-dehydrogenase deficiency. The remainder, classified as having idiopathic precocious pubarche (PP), had adrenal androgens higher than normal prepubertal children and similar levels to those observed in early pubertal controls. In contrast to a recent report, we confirmed that mild adrenal enzymatic defects can occur in PP, and, consequently, the use of ACTH testing in children with PP seems to be recommended.