A child with ambiguous genitalia: An atypical presentation

Abstract

Lipoid congenital adrenal hyperplasia (LCAH) (OMIM No. 201710) is the most severe type of congenital adrenal hyperplasia (CAH). Its clinical presentation includes lethal disturbance of adrenal and gonadal steroid synthesis due to impairment in the conversion of cholesterol to pregnenolone. Infants with this disorder experience salt loss, and glucocorticoid and mineralocorticoid deficiencies. Replacement therapy has enabled long-term survival. Classic LCAH is relatively common in Japan and Korea but extremely rare in Caucasian populations. An XY male 5-year-old child presented at Endocrine Clinic of Armed Forces Institute of Pathology with ambiguous genitalia and hyperpigmentation. He had family history of CAH. His laboratory investigations revealed normal serum cortisol and 17 Hydroxy (17 OH) progesterone levels with high plasma ACTH and renin levels. He had low aldosterone with inadequate response with hCG stimulation test. This is the first case of non-classic LCAH reported in the Pakistani population. Steroidogenic acute regulatory protein (StAR) gene mutations result in LCAH and the condition should be considered in the differential diagnosis of an XY child with primary adrenal insufficiency.