Pituitary Stalk Interruption Syndrome in Adulthood: Diagnostic Recognition, Clinical Spectrum, and Long-Term Follow-Up

Abstract Pituitary stalk interruption syndrome is usually diagnosed during childhood, and data on outcomes in adulthood are limited. This retrospective, single-center study evaluated the diagnostic history, endocrine phenotype, and clinical outcomes of 14 adults with radiologically confirmed pituitary stalk interruption syndrome. The cohort comprised eight men and six women, with a mean age of 28.8±6.4 years and a mean documented follow-up at our center of 5.6±3.2 years. Hypopituitarism was diagnosed during childhood in 12 patients and during adulthood in 2 patients. Thirteen patients had deficiencies of all four anterior pituitary hormone axes, whereas one patient had growth hormone and gonadotropic deficiencies with preserved corticotropic and thyrotropic functions. In six patients diagnosed during childhood, pituitary stalk interruption syndrome was recognized only after later reassessment of pituitary imaging. Eleven patients received growth hormone treatment during childhood, and 13 of 14 patients reached their calculated target height. Metabolic dysfunction–associated steatotic liver disease and dyslipidemia were each present in 10 patients. Four patients had bone mineral density below the expected range for age. One female patient achieved a live birth following in vitro fertilization. In this real-world cohort, the skeletal and metabolic findings observed despite generally favorable growth outcomes support the need for lifelong endocrine follow-up.