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

Salvatore Scommegna, Daniela Galeazzi, Simonetta Picone, Edoardo Farinelli, Rocco Agostino, Alessandro Bozzao, Brunetto Boscherini, Stefano Cianfarani

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)10-16
Number of pages7
JournalHormone Research
Issue number1
Publication statusPublished - 2004


  • Hypopituitarism
  • Magnetic resonance imaging, brain
  • Pituitary aplasia

ASJC Scopus subject areas

  • Endocrinology

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