de Brito V N, Latronico A C, Arnhold I J, Lo L S, Domenice S, Albano M C, Fragoso M C, Mendonca B B
Developmental Endocrinology Unit, São Paulo University Medical School, Brazil.
Arch Dis Child. 1999 Mar;80(3):231-4. doi: 10.1136/adc.80.3.231.
The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue that contains GnRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle. HH is a well recognised cause of gonadotropin dependent precocious puberty (GDPP). Long term data are presented on eight children (five boys and three girls) with GDPP due to HH. Physical signs of puberty were observed before 2 years of age in all patients. At presentation with sexual precocity, the mean height standard deviation (SD) for chronological age was +1.60 (1.27) and the mean height SD for bone age was -0.92 (1.77). Neurological symptoms were absent at presentation and follow up. The hamartoma diameter ranged from 5 to 18 mm and did not change in six patients who had magnetic resonance imaging follow up. All patients were treated clinically with GnRH agonists (GnRH-a). The duration of treatment varied from 2.66 to 8.41 years. Seven of the eight children had satisfactory responses to treatment, shown by regression of pubertal signs, suppression of hormonal levels, and improvement of height SD for bone age and predicted height. One patient had a severe local reaction to GnRH-a with failure of hormonal suppression and progression of pubertal signs. It seems that HH is benign and that GnRH-a treatment provides satisfactory and safe control for most children with GDPP due to HH.
分泌促性腺激素释放激素（GnRH）的下丘脑错构瘤（HH）是一种先天性畸形，由异位神经组织团块组成，其中含有附着于灰结节或第三脑室底部的GnRH神经分泌神经元。HH是促性腺激素依赖性性早熟（GDPP）的一个公认病因。本文给出了8例因HH导致GDPP的儿童（5名男孩和3名女孩）的长期数据。所有患者在2岁前均观察到青春期体征。性早熟就诊时，按实足年龄计算的平均身高标准差（SD）为+1.60（1.27），按骨龄计算的平均身高SD为-0.92（1.77）。就诊及随访时均无神经系统症状。错构瘤直径为5至18毫米，6例接受磁共振成像随访的患者其大小未发生变化。所有患者均接受GnRH激动剂（GnRH-a）临床治疗。治疗持续时间从2.66年至8.41年不等。8名儿童中有7名对治疗反应良好，表现为青春期体征消退、激素水平受到抑制，以及骨龄身高标准差和预测身高有所改善。1例患者对GnRH-a出现严重局部反应，激素抑制失败且青春期体征进展。HH似乎是良性的，GnRH-a治疗可为大多数因HH导致GDPP的儿童提供满意且安全的控制。
