Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) are genetic diseases with a deficit of one of the enzymes of steroidogenesis (21 hydroxylase OH, 90%). The consequences of the adrenal hyperandrogenism that results are observed when the treatment is not undertaken precociously.

Aim: To study the impact of CAH and or treatment by glucocorticoids on the final size and gonadal function in girls.

Materials and methods: 25 patients with CAH by 21-hydroxylase deficiency (n=25) or 11β-hydroxylase (n=3) with completed puberty were studied to assess the impact of affection and or glucocorticoid treatment on final height, pubertal development, and gonadal function in girls. Impact of congenital adrenal hyperplasia and glucocorticoid treatment on the final size and gonadal function.

Results: The mean age at diagnosis and initiation of treatment was 5±2.4 years old (3–9). The mean final height was 150±1.2 cm for girls (n=18) and 158±2 cm for boys (n=7). 20% of patients have early puberty. In the remaining cases, delayed puberty was observed with a mean age of 14±0.1 and 17±1.2 years for onset of puberty and ménarchie in girls; 15±1.4 years for boys. All girls had polycystic ovarian disease. 70% of patients had a persistent hyperandrogenism. 50% of patients were tightly controlled, 25% underdosed, and 25% overdosed.

Discussion and conclusion: Delayed diagnosis and poor compliance in our patients have resulted in a significant impact on growth in stature, pubertal development, and gonadal function. The introduction of routine neonatal screening for CAH in our country and more éfficace care of pathology will improve the functional prognosis of patients.