An International Publisher for Academic and Scientific Journals
Author Login
Scholars Journal of Medical Case Reports | Volume-12 | Issue-11
Case Report: “Precocious Puberty in a Child with Cortisone Reductase Type 2 Deficiency”
Oswaldo Núñez Almache, Rómulo Lu de Lama, Eliana Chávez Tejada, Oscar Espinoza Robles, Paola Pinto Ibarcena, Martha Calagua Quispe, Miguel De los Santos La Torre, Pamela Azabache Tafur
Published: Nov. 29, 2024 |
28
29
DOI: https://doi.org/10.36347/sjmcr.2024.v12i11.037
Pages: 1999-2003
Downloads
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.