A patient with DAX1 mutation presenting with elevated testosterone in early infancy

作     者：Juan Ge Tang Li 

作者机构：Medical DepartmentQingdao UniversityQingdaoChina Department of Pediatric Endocrinology and Genetic Metabolic DiseasesQingdao Women and Children's HospitalQingdaoChina 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2019年第15卷第3期

页      面：309-311页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：A patient DAX1 elevated testosterone 

摘      要：Dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome 1 (DAX1) deficiency is a rare disorder presents X-Linked adrenal hypoplasia congenital,impaired sexual development and *** gene of DAX1 was identified as NROB1 [1] which expresses in adrenal gland and hypothalamic-pituitary-gonad axis,restrains progenitor stem cells from differentiating into steroidogenic cells ***,DAX1 deficiency usually manifests primary adrenal insufficiency and hypogonadotropic ***,we observed a patient whose testosterone elevated in early infancy.