Endocrine Abstracts

Introduction: Growth retardation is considered severe when the height of the child is -3 standard deviation (SD) below the average height in reference to the growth curves of children of the same sex and age. Pituitary stalk interruption syndrome (PSIS) is one of the most common conditions in children with short stature.

Case report: We report the case of a 12-years old boy with no clinical history of perinatal injury or traumatic birth, who was admitted for short stature. Physical examination showed that his height was 105 cm (-4 SD), his weight was 15 kg (-4 SD), and Tanner stage was 1. A complete pituitary hormone profile was performed, which showed picture of hypopituitarism with low T4: 0,46 ng/ml, and low morning baseline cortisol: 28 ng/ml. His IGF1 level was under 10 ng/ml.

His bone age was 2 years according to the Greulich and Pyle. Magnetic resonance imaging (MRI) examination showed an agenesis of the pituitary stalk which was not visualized; however; anterior pituitary and posterior pituitary were normally identified.

Discussion: PSIS is characterized by the presence of a thin or absent pituitary stalk, associated to hypoplastic anterior pituitary and ectopic posterior pituitary on MRI. However, there are variations in MRI appearances of this syndrome that includes the form of the pituitary stalk (interrupted, thin, or absent), the height of the anterior pituitary (from absence to normal) and the appearance of the posterior pituitary (ectopic, absent, or normal) The clinical presentation of PSIS varies with the age of diagnosis; manifestations may include neonatal hypoglycemia, prolonged neonatal jaundice, or short stature in older children. The clinical findings are related to isolated growth hormone deficiency; or combined multiple pituitary hormone deficiency.

Conclusion: PSIS is a rare syndrome of congenital abnormalities involving hypothalamic-pituitary structures. It should be considered in the differential diagnosis of a child presenting with short stature or delayed puberty.