The NROB 1 gene missense mutation causes congenital adrenal dysplasia:a case report
10.3969/j.issn.1000-3606.2016.07.011
- VernacularTitle:NROB1基因错义突变致新生儿先天性肾上腺发育不良1例报告
- Author:
Xiaojing LIU
;
Haihua YANG
;
Chunzhi LI
;
Yongxing CHEN
;
Haiyan WEI
- Publication Type:Journal Article
- Keywords:
X linked adrenal hypoplasia congenital;
gene detection;
neonate
- From:
Journal of Clinical Pediatrics
2016;34(7):522-525
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical feature and diagnosis of the X linked adrenal hypoplasia congenital (X-AHC). Methods The clinical data and gene detection results of one case of AHC were retrospectively analyzed. The related literatures were reviewed. Results Two-month-old male infant was suffered with slow weight gain, vomiting, and salt craving of adrenal insufifciency after birth. Gene detection found a new missense mutation on NROB 1 gene. The diagnosis of X-AHC was conifrmed. Conclusions X-AHC is a kind of rare disease and is diagnosed by clinical manifestation, laboratory testing, and NROB 1 gene detection.
