OBJECTIVE : Congenital adrenal hyperplasia (CAH) classically presents at birth with disorders of sex development in an affected female. Salt wasting, which can be life threatening, is the only sign in an affected newborn male. This study aimed to described clinical profile of CAH patient in South Sumatera.
METHOD : This decriptive study involved a review of medical records of 28 patients diagnosed with CAH between 2008 and 2019. Diagnosis was established based on classical clinical findings, electrolyte imbalance and increased 17OH-progesterone or testosterone level. Data collected included age at initial presentation and diagnosis, initial gender, analysis chromosome, hyponatremia, failure to thrive, nutritional statue, clitoroplasty, hydrocortisone therapy, and respon to treatment.
RESULT: In total 28 patients were analyzed, 4 boys and 24 girls, nineteen patient were diagnosed at age <3 months, six patient as a male in first diagnosed, two patient first diagnosed as a disorders of sex development, two patient with dehydration, one patient with profuse vomiting, 15 cases presented with failure to thrive, and thirteen cases had hyponatremia. Six patient have a high level of 17OH-progesterone and nineteen cases had performed analysis chromosome. All patient with hydrocortisone medication had weight increment. Fludrocortisone therapy add on patient with salt wasting until 2 years. There were six children underwent clitoroplasty between age 2-4 years old. There were 5 patient diagnosed as a non salt wasting type of CAH.
CONCLUSION : Congenital adrenal hyperplasia should be highly suspected in infant with hyponatremia, dehydration, profuse vomiting, failure to thrive and disorders of sex development.