一名患有18号环状染色体的患者出现下丘脑生长激素缺乏症。
Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.
作者信息
Meloni A, Boccone L, Angius L, Loche S, Falchi A M, Cao A
机构信息
Istituto di Clinica e Biologia dell'età Evolutiva, Università degli Studi di Cagliari, Italy.
出版信息
Eur J Pediatr. 1994 Feb;153(2):110-2. doi: 10.1007/BF01959220.
PMID:8157016
Abstract
We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of the 18 chromosome.
摘要
我们报告了一名患有18号环状染色体并伴有下丘脑生长激素（GH）缺乏症的男孩。为期12个月的GH替代治疗（0.5 U/kg/周）试验导致了显著的生长加速。我们的研究结果强调了对18号染色体异常患者评估GH分泌的必要性。
Zotero 插件