We report the case of a female newborn, first child of healthy, non-consanguineous parents, born at 42+0 weeks of gestation, who was admitted 21 h after birth with severe hypoglycemia, hypothermia, decreased muscle tone, inspiratory stridor and edema. The course included poor feeding and failure to thrive, hyperbilirubinemia and cholestasis. Infectious or metabolic diseases were ruled out by clinical and laboratory investigations. Hormonal evaluation confirmed the diagnosis of congenital hypopituitarism with central hypothyroidism, cortisol deficiency and growth hormone deficiency. MRI of the brain demonstrated an empty sella and ectopic neurohypophysis. There was no evidence for other causes of the stridor like cardiovascular anomalies or a mass of the head and neck region. Genetic testing showed no mutations in genes associated with combined pituitary hormone deficiency (LHX4, HESX1, LHX3, PROP1, POU1F1). Hormone replacement therapy was started with hydrocortisone and levothyroxine and improved muscle tone, stridor and feeding, but failure to thrive eventually resolved after initiation of growth hormone replacement at three weeks of age. An association of cholestasis with hypopituitarism is described in the literature. Our patient showed highly elevated GGT-levels, which normalized under hormone replacement therapy. Stridor and respiratory distress are not typically described in neonatal panhypopituitarism. The complete resolvement of these symptoms can be explained by improvement in muscle tone, a consequence of hormonal replacement therapy.
Conclusion: Clinical presentation of neonatal hypopituitarism is variable and non specific. Hypoglycemia in combination with cholestasis, edema and respiratory distress should lead to a hormonal evaluation to assure an early diagnosis and management.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology