hrp0092p3-12 | Adrenals and HPA Axis | ESPE2019

Clinical Follow-Up of a Novel NR0B1 Mutation in a Case of Adrenal Hypoplasia Congenital

yang haihua , wei haiyan , Shen Linghua , Wang Huizhen , Chen Qiong , Chen Yongxing , Liu Xiaojing

We have examined a male child patient aged about 15 years old to confirm the diagnosis of adrenal hypoplasia congenital (AHC) at the Genetics in-patient department, Children's Hospital Affiliated to Zhengzhou University.When the child was 5 years and 9 months,he was diagnosed as abmormal phenotypic characteristics who had skin hyperpigmentation, penis enlargement, rapid growth over the past 2 years, along with fatigue, drowsiness, and pubic hair appearing for 2 months.Base...