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发育医学电子杂志  2013, Vol. 1 Issue (1): 46-49    
  论著 |
11例Turner综合征染色体核型分析及重组人生长激素干预对其身高影响
成胜权付蓉 张春兰 强欢
第四军医大学西京医院儿科,西安710032
Karyotype analysis of Thrner syndrome and rhGH intenr mtion on the body height:a report ofll cases
CHENG#br# sheng-quan。FU R0ng。ZHANG Chun—la#br#
Depanment
of Paediatrics.Xbing
Hospital.也e Fou劬Mili纽巧Me击cal Univcfs诹X汹7l0032。ch洒a
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摘要 【摘要】 目的分析和探讨rume_综合征不同核型的遗传学特征及基因重组人生长激素(rhGH)
干预对身高的影响。方法所有患儿均清晨空腹无菌取外周血,淋巴细胞常规培养制作染色体标本,
胰酶法G显带,显微镜下进行染色体核型分析。可乐定和盐酸精氨酸进行双药生长激素激发试验。
摄左手腕关节x线片,脑垂体核磁共振,超声检查子宫、卵巢大小及形态。每晚睡前给予rhGH皮下
注射,剂量为0.15~0.2 u,(kg.d)。结果11例Turner综合征患者的染色体核型为:45,x0 8例,45,xO
/46,xx、45,xo/46,xo+?、46,xi(xq)各1例。合并生长激素完全缺乏、生长激素部分缺乏各1例。
超声检查示无子宫7例,卵巢呈索状8例,子宫和卵巢发育不良3例。1l例均给予rhGH治疗,2例身高
达162 cm,已结束治疗,1例治疗6个月,4例治疗1年,3例治疗2年,1例治疗2.5年,平均每月增高
(0.8±O.08)cm。结论Tumer综合征患者染色体核型以45,x0最多见,可有其他核型;部分患儿可以合
并生长激素完全或部分缺乏,可能是其身材矮小的原因之一;rhGH治疗能够明显改善身高。
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成胜权付蓉 张春兰 强欢
关键词:  TumeF综合征  染色体核型分析  生长激素    
Abstract: 【Abstract】
objectives
To analyze and discuss the innuence of
genetic
characteristics on different
karyotype
of Tumer syndmme肌d recombinant humaJl gm叭h ho瑚one(rhGH)intenrention on the
body height.
Memods AU
pediatric patients
f如ted in the
moming
before
peripheral blood sample
was
taken.Lymphoc”e
is
conventionaUy
cultured to
produce chmmosome specimens.By using G—banding
of Pancreatin method,
kaI_yotype
was
analyzed
under the
microscope.With
clonidine and
arginine hydrochloride
dual
dmg growth
ho瑚one provocation test were
conducted.Using X—ray,pituitary magnetic resonance,ultrasound
the size and
shape
of utems and ovaries were analysed.The treatment included rhGH subcutaneous injection,0.1 5—0.2u/
(kg.d)every night
before
sleep.Resuns
In 11 cases of Tumer
syndrome patients’
karyot),pe,8 cases were
of 45,XO,1 c鹤e
45,X0,46,XX,l
case
x0+?,锄d
1 case
46,xi()【m.0ne
case
completely
lack the
merger
growth homone
and 1 case
partially
1ack
growth
ho肌one.Seven cases had no utenls demonstrated
by using
ultrasound.Eight c鹊es had
cord—like ov耐an.Three cases’ uterine and ov撕an were not well—developed.After
rhGH treatment for tlle 1l c鹊es,2 cases’
body height
was
up
to 162 cm;1 case had treatnlent for 6 montlls,
4 cases for 1
year,3
c嬲es for 2
years,1
c鹊e for 2 and a halfyears,粕d the
average increase
was 0.8±0.08clIl,
momh.Conclusion
Regarding Tumer syndrome karyotype,the
most common one is 45,X0,and there are stiU
otller karyotypes.Some patiems c舳compete or partly lack the merger gmwth homone which is one of the reason
山at mey盯e short in stature.rhGH intervention can signi6c粕tly improve the hei曲t.
Key words:  Ter syndmme    karyotypealysis    recombinant humangmwtll hoone
               出版日期:  2013-01-30      发布日期:  2019-09-06      期的出版日期:  2013-01-30
引用本文:    
成胜权付蓉 张春兰 强欢. 11例Turner综合征染色体核型分析及重组人生长激素干预对其身高影响[J]. 发育医学电子杂志, 2013, 1(1): 46-49.
CHENG sheng-quan。FU Rng。ZHANG Chun—la. Karyotype analysis of Thrner syndrome and rhGH intenr mtion on the body height:a report ofll cases. Journal of Developmental Medicine(Electronic Version), 2013, 1(1): 46-49.
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