Critical Hypoglycemia in a Newborn with Pituitary Stalk Interruption Syndrome in Conjunction with 16p11.2 Deletion Syndrome and Duplication of Xp22.33/Yp11.32

Abstract

This report is about a male newborn with pituitary stalk interruption syndrome (PSIS) who presented with apneic episodes associated with critical hypoglycemia at 3 hours of life (HOL). The onset of manifestations of PSIS varies in timing with the mean age of presentation between 4 and 5 years of age. The cause is unclear, but birth-related complications are considered potential factors. There is also a growing recognition of increasingly complex PSIS inheritance patterns. Further genetic workup for our patient revealed the deletion of the 16p11.2 gene with duplication of Xp22.33/Yp11.32. This is the first case report that describes PSIS in conjunction with these mutations, so the clinical correlation is unknown. However, 16p11.2 deletion is known to be associated with epilepsy and brain abnormalities. Additionally, duplication of Xp22.33/Yp11.32 is noted to be associated with short stature.