Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by the neuroradiological triad of an absent or interrupted pituitary stalk, ectopic posterior pituitary, and anterior pituitary hypoplasia. It is typically diagnosed in infancy or childhood due to growth failure or delayed puberty. Diagnosis in adulthood is uncommon and may occur after decades of untreated hypopituitarism. Case: A 34-year-old Malay male with underlying physical and intellectual disability presented after a mechanical fall resulting in left slipped capital femoral epiphysis, an unusual pathological fracture in adulthood. Clinical examination revealed marked infantilism with complete absence of secondary sexual characteristics (Tanner stage I). Laboratory evaluation demonstrated combined pituitary hormone deficiency, including severe central hypothyroidism, profound hypogonadotropic hypogonadism, and central adrenal insufficiency. Growth hormone and insulin-like growth factor 1 were undetectable, while prolactin was mildly elevated, consistent with pituitary stalk disruption due to loss of hypothalamic dopaminergic inhibition. Bone age assessment showed severe delay, corresponding to 15 years. Pituitary magnetic resonance imaging demonstrated the classical PSIS triad: anterior pituitary hypoplasia with partial empty sella, a high T1 signal nodule at the median eminence representing ectopic posterior pituitary, and non-visualization of the infundibulum, consistent with an absent pituitary stalk. Birth history revealed premature breech delivery, a recognized perinatal risk factor. The patient was commenced on hormone replacement therapy, including levothyroxine, hydrocortisone, testosterone undecanoate, and calcium–vitamin D supplementation. Conclusion This case illustrates that PSIS may remain undiagnosed into adulthood, leading to severe consequences of long-standing hypopituitarism such as osteoporosis and pathological fractures. Clinicians should consider hypopituitarism in adults presenting with unexplained fractures and delayed sexual maturation, particularly when supported by a suggestive perinatal history.
Fractures, Spontaneous ; Pituitary Gland