Endocrine Abstracts

JOINT1114

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the CYP21A2 gene, leading to 21-hydroxylase deficiency, the most common form of CAH. Classic CAH presents as either virilizing or salt-wasting forms. This study evaluates the clinical and paraclinical evolution of 11 pediatric patients with classical CAH, focusing on treatment response and management challenges.

Methods: A retrospective analysis was conducted on clinical, paraclinical, and genetic data from 11 children diagnosed with CAH, aged between 1 month and 12 years. Parameters such as growth, bone age, androgen axis control (17-hydroxyprogesterone [17-OHP], testosterone, androstenedione, dehydroepiandrosterone sulfate [DHEA-S]), renin levels, and blood pressure were analyzed. All patients were treated with hydrocortisone and fludrocortisone, with doses adjusted based on weight and body surface area.

Results: 1. Genetic Profile: The most frequent mutations identified were I2 splice, P30L, and Del 8bp E3. Rare combinations of severe mutations were observed, associated with virilizing and salt-wasting forms.

2. Growth: Most patients exhibited accelerated bone age compared to chronological age, necessitating regular adjustments of hydrocortisone doses to prevent early puberty.

3. Complications: Three patients developed obesity (BMI >95th percentile). Two patients presented with Grade I hypertension, likely due to fludrocortisone overtreatment, which was managed by dose adjustment. Four patients had genital ambiguity, with surgical interventions (e.g., feminizing genitoplasty) planned or performed.

4. Paraclinical Response: Most patients had 17-OHP and renin levels outside the target therapeutic range (17-OHP >10 ng/mL, renin >30 pg/ml), requiring treatment optimization. Elevated androstenedione levels correlated with signs of virilization.

Discussion: The results underscore the challenges in managing CAH in pediatric patients, including the high prevalence of metabolic complications, the need for continuous treatment adjustments, and the importance of multidisciplinary monitoring. Androgen axis control in our cohort was moderate, consistent with findings in the literature. These findings highlight the need for dose adjustment guidelines based on body surface area and growth rates.

Conclusions: Individualized monitoring is essential to optimize CAH treatment and prevent long-term complications. This study advocates for stricter dosing protocols and closer collaboration among endocrinology, genetics, and pediatric surgery teams.