Department of Endocrinology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
Endocr Metab Immune Disord Drug Targets. 2023;23(9):1229-1234. doi: 10.2174/1871530323666230228110650.
Pituitary stalk interruption syndrome (PSIS) is featured by hypopituitarism and a classic triad of absence or slender pituitary stalk, absence or ectopic posterior lobe, and hypoplasia of the anterior lobe. Hypopituitarism, which induces hormone deficiencies, is associated with non-alcoholic fatty liver disease (NAFLD) and liver cirrhosis.
A 29-year-old male patient was presented with intermittent nosebleeds and underdeveloped secondary sexual characteristics. Laboratory examination revealed low gonadal hormone, thyroxine, and cortisol levels. Magnetic resonance imaging revealed an interrupted pituitary stalk, ectopic posterior pituitary, and hypoplastic anterior pituitary. PSIS was confirmed. Liver cirrhosis was supported by bilirubin metabolism disorder, abnormal coagulation, the varicose vein of the esophagus and fundus of the stomach, hypersplenism, and signs on a computer tomography scan. He received glucocorticoid, levothyroxine, androgen, and human chorionic gonadotropin supplements, and growth hormone was not given because of poverty. Five months later, the patient developed Cushing-like symptoms and further deterioration of liver function.
PSIS can cause liver impairment and even cirrhosis, which may be associated with multiple hormone deficiencies. A case of PSIS with cirrhosis as the initial symptom and progression of cirrhosis in the absence of growth hormone (GH) therapy suggests that GH therapy may be important in PSIS-related cirrhosis.
垂体柄中断综合征（PSIS）的特征是垂体功能减退症以及缺乏或纤细的垂体柄、缺乏或异位的后叶和前叶发育不良的经典三联征。导致激素缺乏的垂体功能减退症与非酒精性脂肪性肝病（NAFLD）和肝硬化有关。
一名 29 岁男性患者因间歇性鼻出血和第二性征发育不良就诊。实验室检查显示性腺激素、甲状腺素和皮质醇水平低。磁共振成像显示垂体柄中断、异位的垂体后叶和发育不良的垂体前叶。诊断为 PSIS。胆红素代谢紊乱、凝血功能异常、食管和胃底静脉曲张、脾功能亢进以及计算机断层扫描的迹象支持肝硬化的诊断。他接受了糖皮质激素、左甲状腺素、雄激素和人绒毛膜促性腺激素的补充治疗，由于贫困没有给予生长激素。五个月后，患者出现类库欣症状，肝功能进一步恶化。
PSIS 可导致肝损伤甚至肝硬化，这可能与多种激素缺乏有关。本例 PSIS 以肝硬化为首发症状，且在未接受生长激素（GH）治疗的情况下肝硬化进展，提示 GH 治疗可能对 PSIS 相关肝硬化很重要。
