Cholestatic neonatal hepatitis: A rare onset of congenital hypopituitarism

Abstract

Background: Neonatal cholestasis has an incidence of 1/2500 live births. Less than 1% is due to congenital hypopituitarism, multiple pituitary hormone deficiencies. Hypopituitarism is a treatable cause ofNC,which improveswith starting hormonal therapy.What is the role of the deficit of individual hormones in cholestasis is an open question. Case series: We report two infants with congenital hypopituitarism, which had clinical signs of cholestasis. Common symptom of initial presentation was recurrent hypoglycaemia, associated with micropenis in male. The hormone assays were suggestive of cortisol and thyroid hormones deficiency. Growth Hormone Deficiency was suspected by low IGF-1 and IGFBP-3, and confirmed, subsequently, by pharmacological tests. Cholestasis indices resulted respectively: direct bilirubin 5.9 and 4.5mg/dl; alkaline phosphatase 800 and 680U/l; gamma-GT 168 and 120U/l. Cytolysis indices were particularly high: AST 1325 and 216U/l, ALT 563 and 313U/l; liver failure indices (PT, PTT, Albumin) were in normal range. MRI-scan of the brain in both cases showed “agenesis of the pituitary stalk, hypoplastic adenohypophysis and ectopic posterior pituitary gland”. Hydrocortison, l-thyroxine and Growth Hormone therapy gradually improved, in both cases, liver function tests until their normalization after six months. Conclusions: The diagnosis of hypopituitarism must be suspected in children with neonatal hepatitis from causes not explained, even if the cholestasis is a rare symptom of this disease and it is usually of moderate severity. Some cases, untreated or with a delay both in diagnosis and in the beginning of replacement therapy, may evolve into cirrhosis.