Precocious puberty and hypothalamic hamartoma.
Precocious puberty and hypothalamic hamartoma.
复制标题
性早熟和下丘脑错构瘤。
DOI：
10.1542/peds.67.2.236
复制
发表时间：
1981
期刊：
影响因子：
8
通讯作者：
S. Reichlin
中科院分区：
文献类型：
--
作者：
H. Hochman;D. Judge;S. Reichlin
一个3岁的男孩与真正的性早熟和错构瘤的下丘脑描述。初步诊断是由异常提前的青春期和骨龄的存在，没有中枢神经系统功能障碍的其他证据，血液促性腺激素和睾酮浓度升高，阳性计算机断层扫描。气脑造影进一步描绘了肿瘤。下丘脑-垂体-性腺和肾上腺功能进行了研究。注射合成促黄体生成素释放激素后促性腺激素的释放以及口服氟甲睾酮对促黄体生成素和睾酮的抑制与正常男性的最大反应相当。诊断证实了组织学和电子显微镜研究切除部分的肿瘤。免疫荧光研究表明错构瘤中存在促黄体生成素释放激素，放射免疫分析检测到促甲状腺激素释放激素和生长抑素。错构瘤类似于自主功能的辅助下丘脑。然而，异位神经内分泌通路对激素刺激和反馈有反应。本文回顾性分析性早熟及下丘脑错构瘤的临床、内分泌及病理特徴。在非常年轻的时候，晚期或快速进展的真性性早熟，血促性腺激素和性腺类固醇浓度升高，气脑造影阳性似乎是其特征。
A 3-year-old boy with true precocious puberty and hamartoma of the hypothalamus is described. Preliminary diagnosis was established by the presence of unusually advanced puberty and skeletal age without other evidence of central nervous system dysfunction, elevated blood gonadotropin and testosterone concentrations, and positive computed tomography scans. Pneumoencephalography further delineated the tumor. Hypothalamic-pituitary-gonadal and adrenal functions were studied. Release of gonadotropins after the injection of synthetic luteinizing hormone-releasing hormone and the suppression of luteinizing hormone and of testosterone by oral fluoxymesterone were comparable to maximal responses of normal men. The diagnosis was confirmed by histologic and electron microscopic study of an excised portion of the tumor. Immunofluorescence studies indicated the presence of luteinizing hormone-releasing hormone in the hamartoma and radioimmunoassays detected thyroid-stimulating hormone-releasing hormone and somatostatin. The hamartoma resembles an autonomously functioning accessory hypothalamus. The ectopic neuroendocrine pathways, however, are responsive to hormonal stimulation and feedback. The clinical, endocrinologic, and pathologic features of published cases of precocious puberty and hypothalamic hamartoma are reviewed. Advanced or rapidly progressive true precocious puberty in the very young with elevated concentrations of blood gonadotropins and gonadal steroids and positive pneumoencephalography appear to be characteristic.