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


CONCLUSIONS
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.
Scommegna
Salvatore
S
Department of Paediatrics, San Camillo Hospital, Rome, Italy. simonadigi@hotmail.com
Galeazzi
Daniela
D
Picone
Simonetta
S
Farinelli
Edoardo
E
Agostino
Rocco
R
Bozzao
Alessandro
A
Boscherini
Brunetto
B
Cianfarani
Stefano
S
D001921:Brain / Q000473:pathology; D000013:Congenital Abnormalities / Q000175:diagnosis; D017809:Fatal Outcome; D005837:Genitalia, Male / Q000002:abnormalities; D020249:Hormone Replacement Therapy; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007018:Hypopituitarism / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008659:Metabolic Diseases / Q000209:etiology; D010903:Pituitary Gland, Anterior / Q000002:abnormalities* / Q000473:pathology