Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

  • Lee, Juyeen (Department of Pediatrics, Daegu Fatima Hospital) ;
  • Kim, Won Duck (Department of Pediatrics, Daegu Fatima Hospital) ;
  • Kim, Hae Sook (Department of Pediatrics, Daegu Fatima Hospital) ;
  • Lee, Eun Kyung (Department of Pediatrics, Daegu Fatima Hospital) ;
  • Park, Hyung Doo (Department of Laboratory Medicine and Genetics, Samsung Medical Center)
  • Received : 2017.05.17
  • Accepted : 2017.06.09
  • Published : 2017.06.30
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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.

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References

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