Neonatal Identification of Congenital Hypopituitarism with an Invisible Pituitary Stalk and Pituitary Aplasia: Usefulness of Early Growth Hormone Replacement

Abstract

We report a case of male neonatal onset congenital hypopituitarism with an invisible pituitary stalk and pituitary aplasia. He had a micropenis at birth and experienced multiple episodes of apnea, cyanosis, hypotonia and hypothermia, associated with severe hypoglycemia during the first few days of life. He was diagnosed as having congenital hypopituitarism due to the findings of low serum GH and cortisol levels during hypoglycemia, low free T4 and pituitary magnetic resonance imaging findings. He was started on hydrocortisone and levothyroxine at 12 d of life and GH replacement at 1 mo of life. Early GH replacement is effective not only for stabilizing blood glucose but also for improving the quality of life.