Endocrine Abstracts

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary defect with an estimated incidence of 0.5 per 100,00 births. This syndrome has heterogeneous clinical presentations with varying degrees of pituitary hormones deficiencies. PSIS is commonly diagnosed during neonatal period and infancy. However, when symptoms are not evident or overlooked, the diagnosis could be delayed exposing the patient to acute, such as acute adrenal insufficiency, and chronic complications.

Case report: We report a case of a 26 year-old male patient who was referred to our endocrinology department with complaints of short stature and impuberism. The patient had a history of prematurity, poor statural growth, learning and attention difficulties resulting in an early school dropout. On physical examination, the patient’s weight and height were 47 kg and 140 cm respectively, both under the 5^th percentile. He had a micropenis and a reduced testicular volume with absence of pilosity (Tanner stage 1). A blood test assessing pituitary hormones was performed showing an anterior hypopituitarism with undetectable testosterone level. Magnetic resonance imaging exhibited the diagnostic triad of PSIS associating hypoplasia of the anterior pituitary gland, absence of the posterior pituitary and a thin and interrupted pituitary stalk. Further investigations revealed metabolic and bone complications manifesting in Hypercholesterolemia (Total cholesterol = 8 mmol/l) and a pre-diabetic status (HbA1c= 6%). DEXA scan showed a femoral neck osteopenia and a spinal osteoporosis. The patient started immediately hormonal replacement therapy with a close clinical and biological follow-up.

Conclusion: Growth retardation is the most common presentation of PSIS. Hence the importance of early detection and investigation of short stature as any delay in diagnosis may lead to severe complications and heavy psychosocial consequences.