Variable presentation of X-linked adrenal hypoplasia congenita

J Pediatr Endocrinol Metab. 2001 Sep-Oct;14(8):1093-6. doi: 10.1515/jpem-2001-0804.

Abstract

We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Glands / diagnostic imaging
  • Adrenal Insufficiency / diagnosis*
  • Adrenal Insufficiency / diagnostic imaging
  • Adrenal Insufficiency / genetics*
  • Adrenocorticotropic Hormone / blood
  • Child, Preschool
  • DAX-1 Orphan Nuclear Receptor
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics
  • Genetic Linkage
  • Glucocorticoids / deficiency
  • Heterozygote
  • Humans
  • Hydrocortisone / blood
  • Infant
  • Infant, Newborn
  • Male
  • Mineralocorticoids / deficiency
  • Mutation
  • Pedigree
  • Receptors, Retinoic Acid / genetics
  • Renin / blood
  • Repressor Proteins*
  • Transcription Factors / genetics
  • Ultrasonography
  • X Chromosome*

Substances

  • DAX-1 Orphan Nuclear Receptor
  • DNA-Binding Proteins
  • Glucocorticoids
  • Mineralocorticoids
  • NR0B1 protein, human
  • Receptors, Retinoic Acid
  • Repressor Proteins
  • Transcription Factors
  • Adrenocorticotropic Hormone
  • Renin
  • Hydrocortisone