Neonatal identification of pituitary aplasia: a life-saving diagnosis. Review of five cases

Horm Res. 2004;62(1):10-6. doi: 10.1159/000077661. Epub 2004 Apr 1.


Background: Neonatal onset hypopituitarism is a life-threatening, potentially treatable endocrine disease. A possible cause is congenital absence of the anterior pituitary gland, a condition very rarely reported in the literature.

Methods: A series of 5 cases of children with pituitary aplasia referred to the Centre of Paediatric Endocrinology 'Rina Balducci', Tor Vergata University, Rome, is presented.

Results: Major clinical features in our patients were respiratory distress on the first day of life, in spite of uneventful pregnancy, labour and delivery, metabolic acidosis, non-cholestatic jaundice, hypotonia, severe hypoglycaemia, hypogenitalism, and midline defects. Diagnosis was established by endocrine tests during hypoglycaemia and hypothalamic-pituitary MRI scan. Symptoms disappeared soon after replacement therapy was started.

Conclusion: We stress the importance of performing baseline endocrine tests as soon as possible during hypoglycaemia and MRI of the brain aimed at visualizing the hypothalamic-pituitary area in neonates with hypogenitalism and severe unexplained hypoglycaemia, so that the irreversible neurological and developmental consequences of panhypopituitarism can be prevented by adequate replacement therapy.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Congenital Abnormalities / diagnosis
  • Fatal Outcome
  • Genitalia, Male / abnormalities
  • Hormone Replacement Therapy
  • Humans
  • Hypoglycemia / etiology
  • Hypopituitarism / complications
  • Hypopituitarism / diagnosis*
  • Hypopituitarism / drug therapy
  • Hypopituitarism / etiology*
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Metabolic Diseases / etiology
  • Pituitary Gland, Anterior / abnormalities*
  • Pituitary Gland, Anterior / pathology