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- W1981122270 abstract "<i>Background:</i> 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. <i>Methods:</i> 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. <i>Results:</i> 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. <i>Conclusion:</i> 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." @default.
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- W1981122270 date "2004-01-01" @default.
- W1981122270 modified "2023-10-06" @default.
- W1981122270 title "Neonatal Identification of Pituitary Aplasia: A Life-Saving Diagnosis" @default.
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- W1981122270 doi "https://doi.org/10.1159/000077661" @default.
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