ESPE Abstracts

Congenital panhypopituitarism is a rare cause of impaired metabolism in early infancy. Many guidelines for neonatal hypoglycemia include evaluation of pituitary hormones, but other parameters of metabolism (either mineral, lipid or hepatic) are rarely taken into consideration and don’t regularly suggest hormonal investigation. Therefore the diagnosis of multiple hormonal deficiencies is often late at that age. Although many reports point to the impaired bile discharge, a little is known about the underlying mechanisms of the metabolic events in infants with multiple deficiencies of pituitary hormones. A retrospective study of the metabolic parameters in five infants aged 1-18 months with congenital panhypopituitarism (two siblings with septo-optic dysplasia) was performed. Growth parameters were within normal range for the gestational age in all, however all three boys had micropenis and cryptorchidism. All five have recurrent and severe fasting hypoglycemic events during the first month (1-15 days) ranging from 0,2-2,1 mmol/l. In two the hypoglycemia resolved after establishing the feeding regiment, and in the other three after the therapy with hydrocortisone. Low levels of IGF1 and IGFBP3 and GH stimulation tests performed at 2 years were established in all. TSH deficiency (low TSH and T4) was established in three patients. Low ACTH and consecutive decreased cortisol level was detected in all. Moderate elevation of total bilirubin (290..315 umol/l) and liver enzymes were detected in four, while excessive cholestasis was detected in one patient (Persistent direct bilirubin above 250 umol/l with predominant elevation of AST (369 U/L), alkaline phosphatase (208) and hyperlipidemia. This child had most severe ACTH and cortisol deficiency. Metabolic screening of FFA, carnitines and electrolytes were normal, while hyperlipidemia was found in other two infants. MRI of the pituitary was performed in four, all with structural defects. Existence of the triad of hypoglycemia, jaundice and hyperbilirubinemia in neonatal period should raise suspicion of hormonal deficiency despite normal growth parameters in infants. It is not clear which of the hormones has the major role in hepatic dysfunction, however data showed that low ACTH and cortisol levels are predominant in cases where cholestasis occur. Treatment with glucocorticoids as a first hormone should be replaced immediately after establishing the diagnosis since it is mandatory for the resolving the hypoglycemia and metabolic dysfunction.