A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea.
- Author:
Juyeen LEE
1
;
Won Duck KIM
;
Hae Sook KIM
;
Eun Kyung LEE
;
Hyung Doo PARK
Author Information
- Publication Type:Case Report
- Keywords: Congenital adrenal hypoplasia; Adrenal insufficiency; Human DAX1 protein
- MeSH: Adolescent; Adrenal Cortex; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Clinical Coding; Female; Humans; Hyperpigmentation; Hypogonadism; Hypothalamus; Infant, Newborn*; Korea*; Ovary; Pituitary Gland; Point Mutation; Skin; Testis
- From:Journal of Genetic Medicine 2017;14(1):27-30
- CountryRepublic of Korea
- Language:English
- 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.
