Pituitary Stalk Interruption Syndrome in a Child: A Rare Case Report with Literature Review

Abstract

Introduction Pituitary stalk interruption syndrome is an exceedingly rare congenital abnormality affecting the pituitary gland that is still not fully understood. This study presents a 7-year-old child with the disease. Case presentation A 7-year-old male child was presented with short stature, school performance postponement, and an intellectual disability at a mild level. At 6.5 years of age, he had no facial features, was wearing eyeglasses, and had a weight and height of 20 kg (25th percentile) and 101 cm (3rd percentile), respectively. At the age of 7 years, his height was 117 cm (10th percentile) and his weight was 25 kg (50th percentile). Most laboratory tests were normal. However, insulin-like growth factor-1 and glucagon levels were low. A dynamic magnetic resonance imaging of the pituitary gland revealed an ectopic posterior pituitary lobe and the absence of a pituitary stalk. The patient was put on hormone replacement therapy (Norditropin pen) to control the growth hormone deficiency, and he was put under a close follow-up to monitor growth and panhypopituitarism. Conclusion Although hormone replacement therapy is associated with satisfactory outcomes in treating the syndrome, lifelong follow-up is indicated as new hormone deficiencies may arise later in life.