Case Report: “Precocious Puberty in a Child with Cortisone Reductase Type 2 Deficiency”

Abstract

Cortisone reductase type 2 (CRD2) deficiency causes a failure in the regeneration of active cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (11β-HSD1), a deficiency that stimulates adrenal hyperandrogenism mediated by the increase in adrenocorticotropin (ACTH) causing peripheral precocious puberty in males. We present the first case in our setting of a 5-year-old boy carrying a rare pathogenic variant in 11β-HSD1 gene, who due to prolonged exposure to adrenal androgens developed central precocious puberty (CPP). We describe his evolution after 36 months of management, adding to the very small number of patients reported in the world, and drawing attention to the importance of an early diagnosis.