Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 59-62, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879523
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Adrenal Insufficiency
/
Homeodomain Proteins
/
T-Box Domain Proteins
Type of study:
Prognostic study
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS