Abstract
Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary gland, a multigenic condition with phenotypic variability that could be due to a genetic mutation during embryogenesis in PROP1, LHX3, HEXSX1, PROKR2, and GPR161 or due to birth asphyxia. Diagnosis is made radiologically with the triad of an interrupted pituitary stalk, hypoplastic anterior lobe, and an ectopic posterior lobe. The prevalence is estimated to be 0.5 in 1,000,000 patients. In another study involving 231 adult patients with hypopituitarism, 11.2% had PSIS.
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