Growth Hormone (GH) Treatment in Achondroplasia
Growth Hormone (GH) Treatment in Achondroplasia
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生长激素 (GH) 治疗软骨发育不全
DOI：
10.1515/jpem.1993.6.1.45
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发表时间：
1993
影响因子：
1.4
通讯作者：
Y. Seino
中科院分区：
文献类型：
--
作者：
T. Yamate;S. Kanzaki;H. Tanaka;T. Kubo;T. Moriwake;M. Inoue;Y. Seino
软骨发育不全是成人中最常见的导致身材矮小的骨骼发育不良类型之一。在开始生长激素（GH）治疗软骨发育不全患者身材矮小之前，我们评估了他们的生长模式和下丘脑-垂体功能，包括GH分泌。我们研究了22例软骨发育不全患者（7例男性和15例女性：年龄范围，3至12岁）。他们入院时身高的z评分为-5.4 +/- 1.2（平均值+/- SD），入院前每年身高增长的z评分为-3.1 +/- 1.3（平均值+/- SD）。除5名患者外，所有患者对激发试验的GH反应均正常：4名患者对L-Dopa刺激的反应低于正常（< 10 ng/ml），1名患者对GRF刺激的反应低于正常（< 20 ng/ml）。3例患者睡眠期间的平均GH浓度较低（< 5 ng/ml）。这三名患者被怀疑患有潜在的GH缺乏症，因为他们还表现出明显低的IGF-1水平和明显的骨龄延迟。所有患者激发试验LH、FSH、TSH和皮质醇反应均正常。我们用重组人GH（1 IU/kg/周）治疗这组患者。在18名接受GH治疗超过6个月的患者中，GH治疗期间的身高增长速度与GH治疗前相比显着增加（4.1 +/- 0.8厘米/年vs 7.2 +/- 1.4厘米/年）。我们的结论是，参数反映下丘脑-垂体功能，特别是生长激素分泌，应检查软骨发育不全患者，生长激素治疗可能是有益的，在治疗身材矮小的软骨发育不全。
Achondroplasia is one of the most commonly known types of skeletal dysplasia in the adult leading to short stature. Before beginning growth hormone (GH) treatment of short stature in patients with achondroplasia, we evaluated their growth pattern and their hypothalamic-pituitary function, including GH secretion. We studied 22 patients with achondroplasia (7 males and 15 females: age range, 3 to 12 years). The z-score of their height at admission was -5.4 +/- 1.2 (mean +/- SD), and that of their annual height gain before admission was -3.1 +/- 1.3 (mean +/- SD). GH response to provocative tests was normal in all patients except five: four showed subnormal (< 10 ng/ml) response to L-Dopa stimuli, and one patient showed subnormal (< 20 ng/ml) response to GRF stimuli. The mean GH concentration during sleep was found to be low (< 5 ng/ml) in three patients. These three patients were suspected to have latent GH deficiency, as they also showed a markedly low IGF-1 level and marked delay of bone age. LH, FSH, TSH, and cortisol response to provocative tests were normal in all the patients. We treated this group of patients with recombinant human GH (1 IU/kg/week). In 18 patients who were treated with GH for more than 6 months, height velocity during GH therapy was significantly increased compared to that before GH therapy (4.1 +/- 0.8 cm/year vs 7.2 +/- 1.4 cm/year). We conclude that parameters reflecting hypothalamic-pituitary function, particularly GH secretion, should be examined in achondroplasia patients, and that GH treatment may be beneficial in the treatment of short stature in achondroplasia.
患有软骨发育不全和阻塞性睡眠呼吸暂停的男孩睡眠不足导致生长激素分泌的可逆性。
DOI：
10.1530/acta.0.1160095
发表时间：
1987
期刊：
Acta endocrinologica
影响因子：
--
作者：
Goldstein,SJ;Wu,RH;Thorpy,MJ;Shprintzen,RJ;Marion,RE;Saenger,P
通讯作者：
Saenger,P
软骨发育不全婴儿的认知和运动技能：神经系统和呼吸系统的相关性。
DOI：
10.1002/ajmg.1320410215
发表时间：
1991
期刊：
American journal of medical genetics
影响因子：
--
作者：
Hecht,JT;Thompson,NM;Weir,T;Patchell,L;Horton,WA
通讯作者：
Horton,WA