ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report
Nada Ait Kassi 1 , Khaoula Lakhdar 2 , Habbadi Zineb 1 , Fatima Toulali 1 , Ghizlane Sabbar 1 , Kaoutar Rifai 1 , Hinde Iraqi 1 & Mohamed El Hassan Gharbi 1
1Ibn Sina Hospital Mohamed V University, Endocrinology, Rabat, Morocco; 2Ibn Sina Hospital Mohamed V University, Gynecology-Obstetrics and Endoscopy Department, Rabat, Morocco
JOINT51
Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a genetic disorder that impairs adrenal steroid synthesis, presenting with a spectrum of clinical manifestations and significant psychosocial challenges. The severity of the condition can vary widely, and its management involves not only addressing the hormonal imbalances but also the emotional and social difficulties faced by affected individuals, particularly during adolescence.
Case Presentation: We report the case of a 14-year-old female presenting with severe hirsutism, abnormal sexual development (PRADER stage 4), and metabolic risks. Diagnostic evaluation revealed classic 21-hydroxylase deficiency, confirmed by elevated 17 OH progesterone levels and bilateral adrenal hyperplasia. The patient was started on hydrocortisone therapy (20 mg/day), with a treatment plan that included both pediatric psychiatry and endocrinology support to address the psychosocial aspects of the condition.
Discussion: The management of CAH in adolescents requires a comprehensive approach that balances medical treatment with psychological care. Our case highlights the importance of individualized care plans that address both the physical and emotional aspects of CAH. The patient’s family history of CAH further underscores the hereditary nature of the disorder, which can amplify psychosocial challenges. Early intervention, combined with multidisciplinary support, contributes significantly to managing symptoms and improving adherence to therapy.
Conclusion: This case illustrates that effective management of CAH in adolescents requires a holistic approach that includes pharmacological treatment alongside psychological and social support. Personalized care and close follow-up are essential to improving both the physiological and psychosocial aspects of this condition. Early diagnosis and a multidisciplinary approach are crucial in optimizing outcomes for patients with CAH.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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