Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):468-471. doi: 10.4274/jcrpe.2539. Epub 2016 Apr 18.

Abstract

Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both infants had normal serum 17-hidroxyprogesterone levels, and adrenal glands could not be observed with ultrasonography. Creatine kinase and triglyceride levels were measured to elucidate the etiology of adrenal hypoplasia and were above normal limits in both cases. Both patients required steroid and salt supplementation. They were both found to have Xp21.2 deletions (DMD, NR0B1, GK, IL1RAPL1). We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Insufficiency / genetics*
  • Adrenal Insufficiency / metabolism
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / metabolism
  • Chromosome Deletion*
  • Chromosomes, Human, X / genetics*
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / metabolism
  • Glycerol Kinase / deficiency
  • Glycerol Kinase / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male

Substances

  • Glycerol Kinase