ESPE Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders of various enzymes participating in the adrenal steroidogenesi. 21-hydroxylase deficiency (21-OHD) is the most common type of CAH (90–95%). Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR deficiencies. Patients with these enzyme deficiencies can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production, which in some cases require hormone replacement therapy.

Materials and Methods: This is a retrospective descriptive study of 10 patients with congenital adrenal hyperplasia, who are followed-up in the Department of Endocrinology-Diabetology-Nutrition of Mohammed VI University Hospital Center of Oujda in eastern Morocco.

Results: In our study 7 patients had classical congenital adrenal hyperplasia; four of these female patients were born with atypical genitalia, three male patients had neonatal salt wasting. Five of these patients had 21-hydroxylase deficiency and 2 patients had 11β-hydroxylase deficiency. Female patients with atypical genitalia benefited from genital surgery. All of our patients are treated with hormone replacement therapy.

Conclusion: The salt-wasting congenital adrenal hyperplasia (SW) is the most severe type of CAH and accounts for 75% of all cases of classical CAH. While female infants with classic CAH typically have ambiguous genitalia at birth due to intrauterine exposure to high androgen concentrations.