Progress in diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation
10.3760/cma.j.issn.1000-6699.2016.07.019
- VernacularTitle:DAX-1基因突变致先天性肾上腺发育不良伴低促性腺激素性性腺功能减退的诊疗进展
- Author:
Jinlei YUAN
;
Huijuan ZHANG
;
Yannian WANG
- Publication Type:Journal Article
- Keywords:
DAX-1 gene;
Adrenal hypoplasia congenita;
Hypogonadotropic hypogonadism;
Treatment with hormone
- From:
Chinese Journal of Endocrinology and Metabolism
2016;32(7):617-620
- CountryChina
- Language:Chinese
-
Abstract:
[Summary] With the improvement of current medical diagnosis and treatment technology, more and more patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism have been diagnosed. DAX-1 gene mutation has been accounted for one of the most important reasons. Clinical manifestations include adrenocortical hypofunction such as loss of salt, dehydration, nausea and vomiting, as well as gonad dysplasia of male patients in puberty. The disease can be diagnosed by blood biochemical and hormonal level testings, imaging tests and gene sequencing. Patients can be treated by glucocorticoid, mineralocorticoid, and male sex hormone. The review will expand the diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation.
