ECEESPE2025 ePoster Presentations Adrenal and Cardiovascular Endocrinology (170 abstracts)
Partial 21-hydroxylase deficiency in a 7-year-old: a rare cause of precocious puberty
Baltagi Myriam 1 , Ibtissem Ben Nacef 1 , Sawsen Essayeh 1 , Sabrine Mekni 1 , Rihab Laamouri 1 , Rojbi Imen 1 & Khiari Karima 1
1Hospital of Charles Nicolle, Tunis, Tunisia
JOINT1909
Background: A 7-year-old girl was referred for advanced growth (+2 SD), obesity (+3 SD), hirsutism (Ferriman-Gallwey score: 10), and precocious puberty.
Case Presentation: Initial investigations ruled out Cushing syndrome with a normal dexamethasone suppression test. Hormonal evaluation revealed an intermediate 17-hydroxyprogesterone (17-OHP) level (8 ng/mL), and the Synacthen stimulation test confirmed partial 21-hydroxylase deficiency with a rise in 17-OHP to 15 ng/mL. Hyperandrogenism was confirmed with elevated delta-4 androstenedione and testosterone levels. Adrenal insufficiency was excluded.
Management and Outcome: Hydrocortisone therapy (10 mg/m2/day) was initiated, leading to rapid improvement in hyperandrogenism and stabilization of growth velocity.
Conclusion: This case highlights the importance of considering partial 21-hydroxylase deficiency in children presenting with hyperandrogenism and precocious puberty. Early diagnosis and glucocorticoid therapy ensure favorable outcomes and prevent complications.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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