Pituitary Stalk Interruption Syndrome: A Case Series

Pituitary stalk interruption syndrome (PSIS) is a rare congenital endocrine condition characterized by a developmental anomaly of the pituitary gland, leading to deficiencies in anterior pituitary hormones due to the absence or underdevelopment of the pituitary stalk and anterior pituitary gland. An ectopic posterior pituitary; anterior pituitary hypoplasia or aplasia; and a thin, interrupted, or missing pituitary stalk constitute the classic triad of symptoms that define PSIS. PSIS is manifested in various forms and may be identified at different stages of life. PSIS may present as an isolated growth hormone deficiency occurring due to the deficiency of multiple pituitary hormones. Although the exact aetiology remains unknown, genetic mutations are considered a potential causative factor for disease onset. Hormone replacement therapy and early detection of PSIS are essential for preventing long-term consequences. Here, we report three cases in which patients at different stages of life presented with a wide variety of clinical manifestations of PSIS.