hrp0092p3-24 | Adrenals and HPA Axis | ESPE2019
, 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...