Prusty Binod, Sahoo Devadarshini, Das Sambit, Meher Dayanidhi, Agarwal Vishal, Sahu Sandeep K, Choudhury Arun, Das Bijay
Endocrinology, Diabetes and Metabolism, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.
Endocrinology, Diabetes and Metabolism, Kalinga Institute of Medical Sciences, Bhubaneshwar, IND.
Cureus. 2025 May 19;17(5):e84437. doi: 10.7759/cureus.84437. eCollection 2025 May.
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.
垂体柄中断综合征（PSIS）是一种罕见的先天性内分泌疾病，其特征为垂体发育异常，由于垂体柄和垂体前叶缺如或发育不全，导致垂体前叶激素缺乏。异位后叶；垂体前叶发育不全或不发育；以及纤细、中断或缺失的垂体柄构成了定义PSIS的典型三联征症状。PSIS有多种表现形式，可在生命的不同阶段被发现。PSIS可能表现为因多种垂体激素缺乏而导致的孤立性生长激素缺乏。尽管确切病因尚不清楚，但基因突变被认为是疾病发生的一个潜在因素。激素替代疗法和PSIS的早期检测对于预防长期后果至关重要。在此，我们报告三例不同生命阶段的患者出现PSIS多种临床表现的病例。
