J Genet Med.  2017 Jun;14(1):27-30. 10.5734/JGM.2017.14.1.27.

A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

• Lee J
• Kim WD
• Kim HS
• Lee EK
• Park HD

• KMID: 2386606
• DOI: http://doi.org/10.5734/JGM.2017.14.1.27

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.

Keyword

Congenital adrenal hypoplasia; Adrenal insufficiency; Human DAX1 protein

MeSH Terms

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