Judge D M, Kulin H E, Page R, Santen R, Trapukdi S
N Engl J Med. 1977 Jan 6;296(1):7-10. doi: 10.1056/NEJM197701062960102.
The presence of a hypothalamic hamartoma and precocious puberty in a 19-month-old boy provided an opportunity to study their relation. Excised tissue had the ultrastructural characteristics of an independent neuroendocrine unit -- i.e., neurons containing neurosecretory granules and blood vessels with fenestrated endothelium and double basement membranes. Immunofluorescence studies using specific antibody to luteinizing-hormone-releasing factor showed antigenicity to the factor in the hamartoma. The testicular-hypothalamic-pituitary axis was tested. Clomiphene unresponsiveness suggested a lack of maturation of central-nervous-system events characteristic of normal puberty. The negative feedback system between gonad and brain was intact but partially resistant to steroid suppression. These studies suggest that hypothalamic hamartomas may cause precocious puberty by autonomous production and release of luteinizing-hormone-releasing factor into vessels that communicate with the pituitary portal blood system.
一名19个月大男孩患有下丘脑错构瘤和性早熟，这为研究它们之间的关系提供了契机。切除的组织具有独立神经内分泌单位的超微结构特征，即含有神经分泌颗粒的神经元以及内皮有窗孔和双层基底膜的血管。使用促黄体生成素释放因子特异性抗体进行的免疫荧光研究显示，错构瘤中该因子具有抗原性。对睾丸 - 下丘脑 - 垂体轴进行了检测。克罗米芬无反应表明缺乏正常青春期特有的中枢神经系统事件成熟度。性腺与脑之间的负反馈系统完整，但对类固醇抑制有部分抵抗。这些研究表明，下丘脑错构瘤可能通过自主产生并向与垂体门脉血液系统相通的血管释放促黄体生成素释放因子而导致性早熟。
