Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a defect in any of the enzymatic steps of adrenal steroidogenesis. It occurs due to mutations in genes that encode enzymes involved in the synthesis of cortisol from cholesterol. The most common cause is 21-hydroxylase deficiency, with 11-beta hydroxylase, 3-beta hydroxysteroid dehydrogenase, 17-alpha hydroxylase and POR deficiency being among rarer causes.
Objective and Hypotheses: The aim of this study was to characterize the clinical features and reveal frequency of enzyme deficiencies of Turkish patients with CAH.
Method: One hundred and forty-five patients with CAH were included from one pediatric endocrinology center in Istanbul, Turkey. Clinical profile, age of diagnoses and occurrence of precocious puberty, hypertension, testicular adrenal rest tumors were recorded.
Results: The study included 63 male, 82 female patients. All patients were raised in accordance with their genetic sex. While 88.2% of the patients were diagnosed with 21-hydroxylase deficiency (61.1% salt-wasting type, 17.4% simple virilizing type and 9.7% non-classical type), 9.0% had 11-beta hydroxylase deficiency, 2.1% had 3-beta hydroxysteroid dehydrogenase deficiency and 0.7% had POR deficiency. Consanguinity was present in 73.8% of cases. 67.9% of the female patients were diagnosed with ambiguous genitalia and 68.3% of the male patients were diagnosed with salt loss. 15 patients were treated with GnRH analogues due to central precocious puberty. Testicular adrenal rest tumor was present in 9 patients. The only patient with POR deficiency was diagnosed with Antley-Bixler Syndrome due to her syndromic features.
Conclusion: The frequency of enzyme deficiencies in our center was consistent with the literature. The occurrence of hypertension during follow-up was an important clue for 11-beta hydroxylase deficiency. Patients with clinical and hormonal features incompatible with 21-hydroxylase deficiency should be reevaluated for the rare forms of CAH.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology