Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis

BMJ Case Rep. 2016 Aug 17;2016:bcr2016215032. doi: 10.1136/bcr-2016-215032.

Abstract

Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a new finding. The patient was started on glucocorticoid replacement therapy after which his bilirubin and glucose levels normalised.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Hormones / administration & dosage
  • Adrenocorticotropic Hormone / deficiency*
  • Adrenocorticotropic Hormone / genetics
  • Diagnosis, Differential
  • Endocrine System Diseases / complications*
  • Endocrine System Diseases / genetics
  • Genetic Diseases, Inborn / complications*
  • Genetic Diseases, Inborn / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Hydrocortisone / administration & dosage
  • Hypoglycemia / complications*
  • Hypoglycemia / etiology
  • Hypoglycemia / genetics
  • Infant, Newborn
  • Jaundice, Obstructive / etiology*
  • Male
  • Mutation / genetics
  • T-Box Domain Proteins / genetics
  • Treatment Outcome

Substances

  • Adrenal Cortex Hormones
  • Homeodomain Proteins
  • T-Box Domain Proteins
  • TBX19 protein, human
  • Adrenocorticotropic Hormone
  • Hydrocortisone

Supplementary concepts

  • ACTH Deficiency, Isolated