A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
Journal of Genetic Medicine
;
: 27-30, 2017.
Article
in English
| WPRIM
| ID: wpr-114917
ABSTRACT
Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ovary
/
Pituitary Gland
/
Skin
/
Testis
/
Adrenal Cortex
/
Point Mutation
/
Hyperpigmentation
/
Adrenal Insufficiency
/
Adrenal Hyperplasia, Congenital
/
Clinical Coding
Limits:
Adolescent
/
Female
/
Humans
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2017
Type:
Article
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