Razi Journal of Medical Sciences

    Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most common endocrine congenital diseases, some patients are not identified, or may even die of adrenal crisis without being diagnosed. Considering the prevalence and diversity of clinical manifestations of CAH and numerous diagnostic problems, the objective of this study is to identify and determine the frequency of clinical manifestations and different types of CAH in order to introduce them to medical community and facilitate diagnosis of CAH and its early treatment.

Method: In this observational-descriptive study, we observed the frequency of clinical manifestations and different types of enzyme defects in patients with CAH who had referred to the institute of endocrinology and metabolism during the period of 10 years from 1370-1380.

Results: 19 patients including 11 girls(58%) and 8 boys(42%) were under examination. Patients were categorized into 3 groups infants(5 boys and 5 girls), children(3 boys) and adults(6 girls). These patients had manifested ambiguous genitalia and/or adrenal crisis, premature puberty, acne and hirsutism respectively. The average age of girls and boys with salt loss type of CAH at the time of diagnosis was 17.3 and 43.5 days respectively. The most common clinical manifestations were ambiguous genitalia(42.1%), ambiguous genitalia and adrenal crisis(31.5%), acne and hirsutism(31.5%) and peripheral precocious puberty(15.7%). The incidence of different types of enzyme defects was 14 patients(73.7%) with 21-hydroxylase deficiency, 4 patients(21%) with 3-beta hydroxysteroid dehydrogenase deficiency and 1 patient(5.2%) with 11-hydroxylase deficiency.

Conclusion: Congenital Adrenal Hyperplasia(CAH) should be taken into consideration in infants with ambiguous genitalia, hyponatremia and hyperkalemia and also in every boy with peripheral precocious puberty. The diagnosis of CAH is established in girls more and earlier than boys. The most common types of CAH in our patients were 21-hydroxylase deficiency, 3-beta hydroxysteroid dehydrogenase deficiency and 11-hydroxylase deficiency respectively. Therefore, for an early diagnosis and prevention of infants death(especially boys) due to adrenal crisis, incorrect gender assignment and inappropriate virilisation, neonatal screening and greater awareness of medical community about the disease seem to be necessary.