Abstract 97: Lipoid congenital adrenal hyperplasia in a boy with primary adrenal insufficiency with normal male external genitalia

Abstract

Background: Lipoid congenital adrenal hyperplasia (CAH) commonly manifests as atypical genitalia or apparent female external genitalia in 46, XY whereas rarely, it may present with normal male external genitalia. Hence, we report the first Indian case of lipoid CAH with normal male external genitalia.Case Presentation: A 8-year-old boy born of a third-degree consanguineous marriage, presented in 2018 with generalized hyper-pigmentation. Serum 8:00 am cortisol was 2.78 μg/dl and plasma 8:00 am ACTH was 1260 pg/ml. He was diagnosed to have primary adrenal insufficiency and started on oral hydrocortisone 12 mg/m2/d and fludrocortisone (100 μg/d). He had developed hypokalemia on 100 μg/d and also, on 50 μg/d susequently. Hence, his fludrocortisone had been stopped. On review visit after 3 years (at present), his height and weight were appropriate for age and Tanner's sexual maturity rating was P3, SPL-7 cm and TV-15 cc bilateral. His ACTH-stimulated steroid profile showed low serum cortisol (0.15 μg/dL) and aldosterone (3.48 ng/dL) whereas direct renin concentration was elevated (167.5 μIU/mL). Subsequent genetic analysis revealed homozygous pathogenic variant c.574C>T (p.Arg192Cys) in STAR. The patient was restarted on fludrocortisone 25 μg/d.Conclusion: We report the first genetically-proven case of lipoid CAH in a boy with normal male external genitalia in India presenting with primary adrenal insufficiency. The case emphasizes that the diagnostic possibility of lipoid CAH can not be excluded in 46,XY primary adrenal insufficiency with normal male external genitalia.