[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency].
[Laurence-Moon (Bardet-Biedl) syndrome with growth hormone deficiency].
复制标题
[劳伦斯-穆恩 (Bardet-Biedl) 综合征伴生长激素缺乏]。
DOI：
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发表时间：
1993
期刊：
影响因子：
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通讯作者：
B. Labrune
中科院分区：
文献类型：
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作者：
A. Chalvon;M. Tardieu;H. Crosnier;J. Benichou;C. Pienkowski;P. Rochiccioli;B. Labrune
背景
Laurence-Moon综合征的特征从精神发育迟滞、生殖器发育不良到视网膜病变变化很大;最主要的是进行性神经系统受累、共济失调和痉挛性截瘫。像Bardet-Biedl综合征一样，其遗传是常染色体隐性遗传。本文介绍了一个新的家庭劳伦斯-穆恩综合征主题的内分泌调查。
病例报告
该家系12名同胞中5例患者（3女2男）均患有视网膜病变、智力低下和第一掌骨发育不全，拇指近端放置。这五个人从5-6岁起就有痉挛性截瘫、生长迟缓和性腺功能减退。两人有癫痫发作，只有一人肥胖。
结果
4例患者（2例女孩，2例男孩，年龄分别为19、15、18和19岁）的基础血浆FSH和LH水平较低。他们没有FSH LH反应促性腺激素释放激素，他们的血浆睾酮和雌二醇浓度非常低。在这4名患者中，响应于精氨酸-胰岛素的生长激素峰值较低（1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml）。一男一女服用性类固醇数月，对性征有良好的影响。他们的生长激素水平仍然很低（2.9纳克/毫升，6.5纳克/毫升）。1例男孩给予FSH和LH类似物治疗，对性征和睾丸发育有良好效果。他还接受了生长激素治疗，在9个月的治疗后，他的身高突然增长了5.5厘米。
结论
劳伦斯-穆恩二氏患者的性腺功能减退似乎是中枢性的。它与生长激素缺乏症有关。
BACKGROUND
The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia. Like Bardet-Biedl syndrome, its inheritance is autosomal recessive. This paper describes the endocrine investigation of a new family of Laurence-Moon syndrome subjects.
CASE REPORT
The 5 patients (3 girls, 2 boys) in this family of 12 sibs, all suffered from retinopathy, mental retardation and first metacarpal hypoplasia with proximal placement of thumb. All five had had spastic paraplegia since the age of 5-6 years, growth retardation and hypogonadism. Two had had seizures; only one was obese.
RESULTS
Four patients (2 girls, 2 boys, aged 19, 15, 18 and 19 years) had low basal plasma FSH and LH levels. They had no FSH-LH response to gonadotropin-releasing hormone; their plasma testosterone and oestradiol concentrations were very low. The growth hormone peak in response to arginine-insulin were low in these 4 patients (1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml). One boy and one girl were given sex steroids for a few months, with good effect on their sexual characters. Their growth hormone levels remained low (2.9 ng/ml, 6.5 ng/ml). One boy was given FSH and LH analogues with good effects on sexual characters and testicle growth. He was also given growth hormone, and had a growth spurt of 5.5 cm after 9 months treatment.
CONCLUSION
The hypogonadism of Laurence-Moon patients seems to be of central origin. It is associated with growth hormone deficiency.