Background :

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.

Material :

This descriptive study involved a review of medical records of 30 patients diagnosed with CAH between 2005 and 2018. 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, clinical signs and symptoms, laboratory examinations and response to treatment.

Results :

Total of 30 patients were included, two boys and 28 girls. Two-third patient were diagnosed at age<3 months. Gender assignment was a major problem in 24 of 28 girls with disorders of sex development (clitoromegaly) noticed during the first day. Twenty-seven of 28 cases presented with recurrent vomiting, lethargy and dehydration, 24 cases presented with failure to thrive and 22 cases presented with hyperpigmentation. Twenty-five cases had hyponatremia, 18 had hyperkalemia and seven had hypoglycemia at admission. Fifteen cases had increased serum 17OH-progesterone and 20 (all female) had increased testosterone at presentation. All patient with hydrocortisone medication had weight increment. Fludrocortisone was added for patient with salt wasting until age 2 years. Six children underwent clitoroplasty between age 2-4 years. One patient was diagnosed as having simple virilizing CAH.

Conclusions : Congenital adrenal hyperplasia should be highly suspected in infant with hyponatremia, hyperkalemia, failure to thrive and disorders of sex development