Feng Zhu Min Zhou Xiuling Deng Yujuan Li Jing Xiong
10.3389/fendo.2022.897069
Front Endocrinol (Lausanne)
2022 Jun 16;13:897069.
dax1 nr0b1 gene x-linked recessive adrenal hypoplasia congenita hypogonadotropic hypogonadism
CC BY
https://pubmed.ncbi.nlm.nih.gov/35784540/
Adrenal Insufficiency / genetics Genetic Diseases, X-Linked / diagnosis Genetic Diseases, X-Linked / genetics Hypogonadism / genetics
Adrenal Insufficiency / genetics Genetic Diseases, X-Linked / diagnosis Genetic Diseases, X-Linked / genetics Hypogonadism / genetics Case Reports Research Support, Non-U.S. Gov't Adult DAX-1 Orphan Nuclear Receptor / genetics Female Humans Hypoadrenocorticism, Familial / genetics Male Testosterone DAX-1 Orphan Nuclear Receptor NR0B1 protein, human Testosterone
PMC9243302
35784540
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism
2022