垂体柄中断综合征九例报道

目的 探讨垂体柄中断综合征(PSIS)的临床特点,以期提高对该病的认识.方法 收集广州军区总医院内分泌科自2006年1月至2009年1月收治的9例PSIS患者,对其临床表现、影像学改变及内分泌系统异常进行分析总结.结果 (1)几乎全部患者MRI垂体柄缺如,垂体高度不超过3 mm,仅有一例外伤性病因患者为4.5 mm;(2)2例成年起病,有明显外伤史并以垂体危象入院;7例5～12岁发病,以生长发育异常为主因,诊断年龄17～28岁;(3)9例均有生长激素(GH)和垂体促性腺激素(GnH)显著缺乏,7例早年发病患者有6例出现继发性甲状腺和肾上腺皮质功能低下;(4)早年发病者均无垂体危象、无家族史和中膈视发育不良.结论 PSIS表现为垂体柄缺乏和腺垂体发育不良,以GH和GnH缺乏为主,多合并促肾上腺皮质激素和促甲状腺激素不同程度缺乏.

Abstract：

Objective To explore the clinical characteristics of pituitary stalk interruption syndrome (PSIS) to raise our awareness of this disease. Methods The clinical data, including clinical manifestations, MR image changes and disorders of endocrine system, of 9 patients admitted to our hospital were collected and analyzed. Results Eight of 9 patients showed absence of pituitary stalk under MRI with height of the pituitary no more than 3 mm; only one exceptional patient with traumatic etiology showed 4.5 mm of the pituitary. Two patients were adult-onset and clearly induced by head trauma, and both of them were hospitalized due to pituitary crisis; the other 7 patients, having the disease at the age of 5 to 12, were complained of growth and development retardation at the age of 17 to 28. All the patients were totally deficient in growth hormone (GH) and pituitary gonadotropin (GnH) secretion; in addition, secondary hypothyroidism and hypocortisolism occurred in 6 of the 7 young-onset patients. No consanguinity, sign of pituitary crisis, and septooptic dysplasia were noted in those young-onset patients.Conclusion PSIS is characterized by absence of pituitary stalk and pituitary hypoplasia, by GH and GnH deficiency, and mostly combined with ACTH and TSH deficiency of different extent.

Pituitary stalk interruption syndrome: a report of 9 cases

Objective To explore the clinical characteristics of pituitary stalk interruption syndrome (PSIS) to raise our awareness of this disease. Methods The clinical data, including clinical manifestations, MR image changes and disorders of endocrine system, of 9 patients admitted to our hospital were collected and analyzed. Results Eight of 9 patients showed absence of pituitary stalk under MRI with height of the pituitary no more than 3 mm; only one exceptional patient with traumatic etiology showed 4.5 mm of the pituitary. Two patients were adult-onset and clearly induced by head trauma, and both of them were hospitalized due to pituitary crisis; the other 7 patients, having the disease at the age of 5 to 12, were complained of growth and development retardation at the age of 17 to 28. All the patients were totally deficient in growth hormone (GH) and pituitary gonadotropin (GnH) secretion; in addition, secondary hypothyroidism and hypocortisolism occurred in 6 of the 7 young-onset patients. No consanguinity, sign of pituitary crisis, and septooptic dysplasia were noted in those young-onset patients.Conclusion PSIS is characterized by absence of pituitary stalk and pituitary hypoplasia, by GH and GnH deficiency, and mostly combined with ACTH and TSH deficiency of different extent.