hrp0092p3-24 | Adrenals and HPA Axis | ESPE2019

Clinical Characteristics and Genetic Analysis in one Patient with Congenital Lipoid Adrenal Hyperplasia

Xi Li , Chang Zhuo , Pei Zhou , Li Xiaojing , Luo Feihong

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...