Neonatal Hypopituitarism: Unusual Presentation

Congenital hypopituitarism is a rare condition associated with possible serious complications and long-term neurological sequelae, if not promptly recognized and treated.1 Neonates with congenital hypopituitarism may present with or without associated developmental defects, such as ocular, midline, and genital abnormalities. They may also present with nonspecific symptoms, including hypoglycemia, lethargy, apnea, hemodynamic instability, jitteriness, seizures, poor weight gain, failure to thrive, temperature instability, micropenis, recurrent sepsis, neonatal cholestasis, and prolonged jaundice.1,2 Hypoglycemia due to panhypopituitarism is typically detected shortly after birth, but it may occur several weeks after the neonatal period.3 Herman et al first postulated that the hormonal deficiencies due to congenital panhypopituitarismwere the cause of neonatal cholestasis.4 Although the causes are still unknown and the incidence is low, it is still crucial to evaluate any cholestatic infant to prevent progressive hepatic disease and neurological complications. The cholestatic jaundice most commonly associated with neonatal hypopituitarism manifests as conjugated hyperbilirubinemia with elevated alkaline phosphatase titers.4,5 The pathogenesis of cholestasis is unclear. The cholestasis resolves after replacement of glucocorticoids or growth hormone, suggesting a role of these hormones in biliary excretory function.6 We report an infant with congenital panhypopituitarism presenting with cholestasis, hypoglycemia, and high serum ferritin level, suggesting neonatal hemochromatosis.