CLINICAL PROFILE OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFIICIENCY

Abstract

Introduction: 21 Hydroxylase deficiency is the most common enzymatic deficiency seen in XX-DSDs. 11-deoxycorticosterone and 11-deoxycortisol are deficient in the most-severe, “salt-wasting” form of this disease. This study aimed to see clinical profile of CAH patients in a tertiary care hospital.

Methodology: This study was carried over a period of 36 months. All patients who presented to hospital with features suggestive of congenital adrenal hyperplasia were examined thoroughly. These patients were evaluated for possibility of congenital adrenal hyperplasia after their initial resuscitation and stabilization.

Results: Over a period of 36 months, 40 patients with congenital adrenal hyperplasia were diagnosed. We diagnosed 32 cases as salt losing CAH. Median age of presentation was 36 days with range from 1- 90 days. 20 patients presented with recurrent vomiting, refusal of feeds, lethargy and dehydration. 23 of 32 patients presented in shock. 16 patients were products of consanguineous marriage. 26 cases had hyponatremia (<135mg/litre) at presentation. 17 patients had hyperkalemia (serum potassium>5.5mg/litre) at admission. 7 cases had hypoglycemia at presentation. 6 patients were diagnosed as having simple virilizing CAH. One patient presented at 5 years of age with precocious puberty and another presented during evaluation of undescended testis at age of four and a half years.

Conclusion: Congenital adrenal hyperplasia is a unique disorder due to very adverse outcomes and even death resulting from enzyme deficiency if left untreated; and associated social taboos There is a need to start neonatal screening for CAH in our country.