HYPOGLYCEMIA AND CHOLESTASIS IN NEWBORNS: CONSIDER PITUITARY STALK INTERRUPTION SYNDROME

Pituitary stalk interruption syndrome (PSIS) is a rare condition. This congenital anomaly affecting the development of the pituitary gland constitutes a diagnostic emergency, with the prognosis depending on the rapid initiation of hormone replacement therapy. Clinical manifestations associated with endocrine hormone deficiency vary according to the age of onset. In older children and adults, most patients present with short stature or hypogonadism. Neonatal PSIS is extremely rare and difficult to diagnose due to the absence of dwarfism, but a late diagnosis could have detrimental short- and long-term consequences. Therefore, early identification of clinical features is of great importance. Here, we report a case of neonatal PSIS revealed by cholestatic jaundice with hypoglycemia, with the initial assessment suggesting central adrenal insufficiency leading to the performance of a hypothalamic-pituitary MRI objectifying a pituitary stalk interruption syndrome. Initial response was favorable after hormone replacement therapy.