Congenital Adrenal Agenesis Presented with Adrenal Insufficiency

ABSTRACT

We report a very rare case of congenital adrenal agenesis presented with adrenal insufficiency in a 4-day-old female newborn. She was admitted with darkish skin color and seizure. Her external genitalia was normal. Elevated serum level of adrenocorticotropic hormone and increased plasma renin activity were observed. Plasma cortisol level and aldosterone level were decreased. Pelvic ultrasonography revealed bilateral agenesis of adrenal glands. Six exons of the steroidogenic factor-1 (SF-1, NR5A1) gene and their intronic flanking sequences were normal. Now, she is continuously receiving replacement doses of glucocorticoids and mineralocorticoids under adrenal insufficiency. Her growth and development are completely normal. We propose that when a patient presents with 46, XY disorder of sex development or normal female genitalia with adrenal insufficiency, SF-1 gene mutation study should be included in the differential diagnosis.