女性特发性低促性腺激素性性腺功能减退症的临床研究——附16例病例回顾  

Clinical characteristics of idiopathic hypogonadotropic hypogonadism in females： report of 16 cases

作　　者：张婷婷[1] 李昕[1] 曲玲[1] 薛冰[1] 李晓瑾[1] 王先令[1] 巴建明[1] 吕朝晖[1] 窦京涛[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科,北京100853

出　　处：《中华内分泌代谢杂志》2012年第12期1001-1004,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：回顾性分析本院2004年至2011年12月收治的16例女性特发性低促性腺激素性性腺功能减退症（nlHH）患者的临床资料及随访记录。16例患者均具有正常女性染色体核型，粗测嗅觉正常；无第二性征发育，促性腺激素及性腺激素水平显著低于正常，100PgGnRH兴奋试验提示11例LH峰值低于正常水平（11／15），GnRH延长兴奋试验提示垂体性腺激素储备功能尚可（6／6）；双腕和双膝关节正位x线片提示骨骺愈合延迟（9／9）。垂体MRI提示1例右侧嗅球、嗅束缺失（1／16）；妇科超声提示1例无子宫及附件，余15例幼稚型子宫。1例有严重骨质疏松。1例诊断垂体柄中断症。激素替代治疗随诊6例，最长随诊5年，子宫及附件发育及乳房发育均改善。由于治疗开始时间，患者依从性诸多因素，nIHH治疗效果差异较大。对于育龄期患者，停止激素替代治疗后无病程逆转。Clinical characteristics, including primary and secondary sexual characteristics, basal endocrine profiles, and imaging results were reviewed. Follow-up data were recorded. 16 patients had normal karyotypes, manifest amastia, infantile genitalia, amenorrhea, and delayed epiphyseal fusion at the knee and wrist joints. Serum gonadotropic hormone levels were significantly below normal values. 15 patients underwent a gonadotropin-releasing hormone （GnRH） stimulation test and 6 patients had a prolonged GnRH stimulation test. 16 patients underwent pituitary or brain magnetic resonance imaging （ MRI ） , which showed small pituitaries in three patients, wing tips of suspicious nodules in 2 patients, an empty sella turcica in 1 patient, and a missing right olfactory bulb and tract in 1 patient. 1 patient had no detectable uterus or accessory organs, while the other patients had primordial uteri. 1 patient was diagnosed as a case of severe osteoporosis. 1 patient suffered from pituitary stalk interruption syndrome. An artificial menstrual cycle due to hormone replacement therapy was not sustained after discontinuation of hormone therapy. As disease severity and the date of initiating hormone replacement varied, the results of treatment were quite different. For patients of reproductive age, it was rare to see a reversal of idiopathic hypogonadotropic hypogonadism after discontinuation of hormone therapy.

关 键 词：特发性低促性腺激素性性腺功能减退症 女性 

分 类 号：R588[医药卫生—内分泌]