Congenital multiple pituitary hormone deficiency associated with hyperammonemia: a case report with a short review of the literature

J Perinatol. 2011 Feb;31(2):146-8. doi: 10.1038/jp.2010.143.

Abstract

We herein report a case study of a female newborn with multiple pituitary hormone deficiencies who presented with generalized seizures, hypoglycemia and hyperammonemia at 18 h after birth. In addition, we review the association of hyperammonemia in neonates with multiple pituitary hormone deficiencies reported in the previous literature. This unrecognized association should be taken into account for the early diagnosis and treatment of these patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Drug Administration Schedule
  • Drug Monitoring
  • Female
  • Hormone Replacement Therapy
  • Humans
  • Hydrocortisone / administration & dosage*
  • Hydrocortisone / deficiency
  • Hyperammonemia / etiology*
  • Hypoglycemia / etiology
  • Hypopituitarism* / complications
  • Hypopituitarism* / congenital
  • Hypopituitarism* / diagnosis
  • Hypopituitarism* / metabolism
  • Hypopituitarism* / physiopathology
  • Hypopituitarism* / therapy
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Metabolic Networks and Pathways
  • Pituitary Gland* / abnormalities
  • Pituitary Gland* / metabolism
  • Pituitary Gland* / physiopathology
  • Seizures / etiology
  • Thyroxine / administration & dosage*
  • Thyroxine / deficiency
  • Treatment Outcome

Substances

  • Thyroxine
  • Hydrocortisone