Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency.
10.3760/cma.j.cn511374-20191107-00563
- VernacularTitle:一例先天性孤立性促肾上腺皮质激素缺乏症患儿的
TBX19基因变异分析
- Author:
Shengnan WU
1
;
Qiong CHEN
;
Linghua SHEN
;
Haiyan WEI
;
Yongxing CHEN
Author Information
1. Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China. cyx75@126.com.
- Publication Type:Journal Article
- MeSH:
Adrenal Insufficiency/genetics*;
Child;
Homeodomain Proteins/genetics*;
Humans;
T-Box Domain Proteins/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(1):59-62
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic characteristics of a patient with congenital isolated adrenocorticotropic hormone deficiency (IAD).
METHODS:Clinical characteristics of the patient was reviewed. Genomic DNA of the child was subjected to whole exome sequencing.
RESULTS:Genetic testing has confirmed the diagnosis of congenital IAD by identification of compound heterozygous variants of the TBX19 gene, which included a pathogenic nonsense c.535C>T (p.R179X) variant inherited from his father and a novel missense c.298C>T (p.R100C) variant inherited from his mother.
CONCLUSION:Congenital IAD due to variants of the TBX19 gene is a rare autosomal recessive disease. It is characterized by low plasma adrenocorticotropic hormone and cortisol levels but normal levels of other pituitary hormones. Delayed diagnosis may lead to severe early-onset adrenal failure and wrong treatment which may result in neonatal mortality. Hydrocortisone replacement is effective. Detection of pathogenic variant of TBX19 gene is the key to diagnosis.
