Congenital Hypopituitarism

Clin Perinatol. 2018 Mar;45(1):75-91. doi: 10.1016/j.clp.2017.11.001.

Abstract

Mutations of growth hormone genes and pituitary transcription factors account for a small proportion of cases of severe congenital hypopituitarism. Most cases show characteristic MRI findings of pituitary stalk interruption syndrome. Clinical suspicion should prompt assessment of cortisol, free T4, thyroid-stimulating hormone, and growth hormone levels together with MRI of the hypothalamic and pituitary regions.

Keywords: Cholestasis; Growth hormone; Guidelines; Hypoglycemia; Hypopituitarism; MRI; Pituitary stalk.

Publication types

  • Review

MeSH terms

  • Adrenocorticotropic Hormone / metabolism*
  • Anti-Mullerian Hormone / metabolism
  • Follicle Stimulating Hormone / metabolism
  • Gonadal Steroid Hormones / metabolism*
  • Growth Hormone / deficiency
  • Growth Hormone / metabolism*
  • Hormone Replacement Therapy
  • Humans
  • Hydrocortisone / metabolism*
  • Hypopituitarism / congenital
  • Hypopituitarism / diagnostic imaging
  • Hypopituitarism / drug therapy
  • Hypopituitarism / metabolism*
  • Infant, Newborn
  • Luteinizing Hormone / metabolism
  • Magnetic Resonance Imaging
  • Pituitary Gland / diagnostic imaging
  • Testosterone / metabolism
  • Thyrotropin / metabolism*
  • Thyroxine / metabolism

Substances

  • Gonadal Steroid Hormones
  • Testosterone
  • Anti-Mullerian Hormone
  • Adrenocorticotropic Hormone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone
  • Thyrotropin
  • Growth Hormone
  • Thyroxine
  • Hydrocortisone