P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review.

Abstract

A male infant presented with hyponatremia, hyperkalemia, generalized skin hyperpigmentation, and female type external genitalia. These clinical findings were compatible with mineralocorticoid, glucocorticoid and androgen insufficiency. Serum cortisol, progesterone and testosterone levels were extremely low after ACTH stimulation test, suggestive of defect in all of the adrenal steroidogenesis. Computed tomography demonstrated enlarged adrenal glands. The diagnosis of P450scc deficiency or lipoid congenital adrenal hyperplasia was based on all these characteristics. Physiologic replacement therapy with hydrocortisone and 9 alpha-fluorocortisol were effective and the patient achieved normal growth. The clinical characteristics, differential diagnoses, and prenatal diagnosis are discussed and reviewed.