Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview

• Үндсэн зохиолчид: Zuzanna Nowak (Зохиогч), Ewelina Preizner-Rzucidło (Зохиогч), Jakub Gawlik (Зохиогч), Jerzy B. Starzyk (Зохиогч), Dominika Januś (Зохиогч)
• Формат: Ном
• Хэвлэсэн: MDPI AG, 2024-10-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

Background: Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that lead to the dysfunction of the steroidogenesis pathway, resulting in steroid hormone deficiency of varied intensity. The cholesterol side-chain cleavage enzyme (P450scc), coded by the <i>CYP11A1</i> gen...