Transient congenital hypoparathyroidism and 22q11 deletion

J Pediatr Endocrinol Metab. 2000 Jun;13(6):659-61. doi: 10.1515/jpem.2000.13.6.659.

Abstract

CATCH-22 syndrome represents a spectrum of abnormalities associated with microdeletions of chromosome 22q11. We report a patient with transient congenital hypoparathyroidism, with severe neonatal hypocalcemia and spontaneous resolution in infancy, tetralogy of Fallot and thymic hypoplasia. Genetic confirmation of chromosome 22q11 deletion was made. Newborns with congenital hypoparathyroidism need genetic analysis and examination for anomalies associated with CATCH-22 syndrome.

Publication types

  • Case Reports

MeSH terms

  • CD4 Lymphocyte Count
  • Calcitriol / administration & dosage
  • Calcium / administration & dosage
  • Chromosomes, Human, Pair 22*
  • Female
  • Gene Deletion*
  • Humans
  • Hyperparathyroidism / congenital*
  • Hyperparathyroidism / genetics*
  • Hypocalcemia / genetics
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Syndrome
  • Tetralogy of Fallot / diagnostic imaging
  • Tetralogy of Fallot / genetics
  • Thymus Gland / diagnostic imaging
  • Thymus Gland / pathology
  • Ultrasonography

Substances

  • Calcitriol
  • Calcium