Endocrine Abstracts

Introduction: Pituitary Stalk Interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland responsible for isolated or combined anteropituitary insufficiency. We report a case of Pituitary Stalk Interruption Syndrome (PSI) diagnosed in a newborn with profound hypoglycemia.

Case report: We report the case of a newborn with hypotonia, neonatal jaundice associated to a micropenis and a bilateral cryptorchidia. Because of severe hypoglycemia at 1.80 mmol/l (0.33 g/l), persistent despite infusions of glucose serum and glucagon, a hormonal assessment was requested at 48 h of life revealing corticotropic, thyroid and somatotropic insufficiency in favor of a congenital pituitary deficiency. A hypothalamic–pituitary MRI revealed a complete interruption of the pituitary stalk, an ectopic post pituitary associated with hypoplasia of the corpus callosum without other cerebral anomalies. Immediate hormone replacement therapy with hydrocortisone and Lthyroxine resulted in clinical improvement. Growth hormone treatment was also delivered for metabolic and neurodevelopmental purposes to limit the risk of further hypoglycemic episodes. The gonadotropic axis was explored at 6 weeks of age and revealed congenital hypogonadotropic hypogonadism, which led to the initiation of androgen therapy.

Discussion-conclusion: Complete or incomplete pituitary stalk syndrome is a rare syndrome defined by morphological abnormalities on MRI: small or interrupted pituitary stalk, hypoplastic anteroposterior pituitary and ectopic or absent posterior pituitary. The precise pathophysiology of this syndrome is discussed but the theory of congenital malformation with associated midline malformations is retained. Despite the fact that SITP is a rare disorder, it should be considered as a differential diagnosis in the newborn with severe hypoglycemia.