Evaluation of patients with congenital adrenal hyperplasia

Abstract

Purpose: To evaluate the types clinical characteristics of congenital adrenal hyperplasia retrospectively from the records of thirty five patients. Methods: Thirty-five patients (Girls/Boys 22, 62% / 13, 38%) diagnosed as congenital adrenal hyperplasia in University of Çukurova, Faculty of Medicine, Department of Paediatric Endocrinology and Metabolism over a 16-year period were evaluated retrospectively for type of congenital adrenal hyperplasia, age of diagnosis, clinical features, chrosomal sex and treatment. Results: 21-Hydroxylase deficiency was presented in 32 (91%), salt losing form in 16 (50%) (11 female, 5 male), simple virilizing from in 12 (38%) (5 female, 7 male) and late onset form in four girls. 11 b -Hydroxylase deficiency was diagnosed in 2 (6%) patients. One of them was a girl and the other was a boy. One girl (3%) had 3 b -hydroxysteroid dehydrogenase deficiency. The median chronological age of diagnosis was 31.8 moths (1 day - 13 years) in all patients. Chrosomal sex was 46, XX in 22 (63%) patients and 46, XY in 13 (37%) patients. Twenty-three (66 %) patients were followed-up regularly. Combinations of hydrocortisone and 9 a -fludrocortisone acetate were used in the treatment of patients and appropriate surgical repair was made in female patients. Conclusion: As reported previously in the literature we found 21-hydroxylase deficiency as the most common form of congenital adrenal hyperplasia. But salt losing form was lesser (50%) then the previous reports due to the unrecognized and lost cases with adrenal insufficiency.