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Optimising management in Turner syndrome: from infancy to adult transfer.优化特纳综合征的管理:从婴儿期到成人转诊
Arch Dis Child. 2006 Jun;91(6):513-20. doi: 10.1136/adc.2003.035907.
2
Short stature and its treatment in Turner and Noonan syndromes.特纳综合征和努南综合征患者的身材矮小及其治疗。
Curr Opin Endocrinol Diabetes Obes. 2012 Feb;19(1):40-6. doi: 10.1097/MED.0b013e32834ed64e.
3
[Present status of Turner's syndrome].
Contracept Fertil Sex. 1993 Dec;21(12):881-5.
4
Combination growth hormone and estrogen increase bone mineralization in girls with Turner syndrome.
Pediatr Res. 1999 May;45(5 Pt 1):709-13. doi: 10.1203/00006450-199905010-00017.
5
[Therapy of hGH in Turner syndrome].
Minerva Endocrinol. 1993 Sep;18(3 Suppl 1):53-7.
6
Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome.迈向对青春期女孩激素替代疗法的理解:透过特纳综合征的视角审视
Ann N Y Acad Sci. 2008;1135:126-37. doi: 10.1196/annals.1429.031.
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Healthcare for adolescents with Turner syndrome.
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Clinical review 48: The current status of diagnosis and therapeutic intervention in Turner's syndrome.
J Clin Endocrinol Metab. 1993 Aug;77(2):297-301. doi: 10.1210/jcem.77.2.8345029.
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Turner syndrome and clinical treatment.特纳综合征与临床治疗。
Br Med Bull. 2008;86:77-93. doi: 10.1093/bmb/ldn015. Epub 2008 Apr 9.
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[Spontaneous growth of girls with Turner's syndrome until 6 years of age].[特纳综合征女孩至6岁时的自然生长情况]
Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006;12(1):7-11.

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Clinical, Phenotypic, and Demographic Characteristics of Peruvian Children and Neonates with Autosomal and Sex Chromosome Aneuploidies.患有常染色体和性染色体非整倍体的秘鲁儿童及新生儿的临床、表型和人口统计学特征
Eurasian J Med. 2023 Feb;55(1):2-8. doi: 10.5152/eurasianjmed.2023.22070.
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[Thyrotoxicosis in a patient with Turner syndrome: radioactive iodine therapy].[特纳综合征患者的甲状腺毒症:放射性碘治疗]
Probl Endokrinol (Mosk). 2022 Jul 25;68(6):49-58. doi: 10.14341/probl13132.
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Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.特纳综合征嵌合体 45,X/46,XY 伴生殖器模糊和杜氏肌营养不良症:罕见意大利病例的转化方法。
Int J Mol Sci. 2022 Nov 19;23(22):14408. doi: 10.3390/ijms232214408.
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Menarche in primary ovarian insufficiency after a month of hormone replacement therapy: a case report.原发性卵巢功能不全患者接受激素替代治疗 1 个月后出现月经初潮:1 例报告。
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Endocr Connect. 2018 Apr;7(4):534-543. doi: 10.1530/EC-18-0053. Epub 2018 Mar 7.
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The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes.特纳综合征从儿童期到成年早期代谢合并症的自然病史:45,X单体型与其他核型的比较。
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本文引用的文献

1
Methods for cryopreservation of human ovarian tissue.人类卵巢组织的冷冻保存方法。
Reprod Biomed Online. 2005 Jun;10(6):729-34. doi: 10.1016/s1472-6483(10)61116-9.
2
Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial.生长激素补充治疗对特纳综合征成人身高的影响:加拿大随机对照试验的结果
J Clin Endocrinol Metab. 2005 Jun;90(6):3360-6. doi: 10.1210/jc.2004-2187. Epub 2005 Mar 22.
3
Audiological features of Turner's syndrome in adults.成人特纳综合征的听力学特征。
Int J Audiol. 2004 Oct;43(9):533-44. doi: 10.1080/14992020400050068.
4
Hypothyroidism is common in turner syndrome: results of a five-year follow-up.甲状腺功能减退在特纳综合征中很常见:一项五年随访结果
J Clin Endocrinol Metab. 2005 Apr;90(4):2131-5. doi: 10.1210/jc.2004-1262. Epub 2004 Dec 28.
5
A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome.超声心动图与磁共振成像在特纳综合征成年患者心血管筛查中的比较
J Clin Endocrinol Metab. 2004 Dec;89(12):5966-71. doi: 10.1210/jc.2004-1090.
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Improved final height in Turner's syndrome following growth-promoting treatment at a single centre.
Acta Paediatr. 2003 Sep;92(9):1033-8.
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The uterine length in women with Turner syndrome reflects the postmenarcheal daily estrogen dose.特纳综合征女性的子宫长度反映了初潮后的每日雌激素剂量。
Horm Res. 2003;60(4):198-204. doi: 10.1159/000073233.
8
Late or delayed induced or spontaneous puberty in girls with Turner syndrome treated with growth hormone does not affect final height.接受生长激素治疗的特纳综合征女孩出现的青春期延迟或自发青春期延迟,不会影响最终身高。
J Clin Endocrinol Metab. 2003 Sep;88(9):4168-74. doi: 10.1210/jc.2002-022040.
9
IGF-I and IGF-binding protein-3 measurements on filter paper blood spots in children and adolescents on GH treatment: use in monitoring and as markers of growth performance.接受生长激素治疗的儿童和青少年滤纸血斑中胰岛素样生长因子-I(IGF-I)和胰岛素样生长因子结合蛋白-3(IGF-binding protein-3)的测定:用于监测及作为生长性能指标
Eur J Endocrinol. 2003 Sep;149(3):179-85. doi: 10.1530/eje.0.1490179.
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Parents' descriptions of development and problems associated with infants with Turner syndrome: a retrospective study.
J Paediatr Child Health. 2003 May-Jun;39(4):293-8. doi: 10.1046/j.1440-1754.2003.00150.x.

优化特纳综合征的管理:从婴儿期到成人转诊

Optimising management in Turner syndrome: from infancy to adult transfer.

作者信息

Donaldson M D C, Gault E J, Tan K W, Dunger D B

机构信息

University of Glasgow, Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK.

出版信息

Arch Dis Child. 2006 Jun;91(6):513-20. doi: 10.1136/adc.2003.035907.

DOI:10.1136/adc.2003.035907
PMID:16714725
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2082783/
Abstract

Turner syndrome can be defined as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. The condition occurs in approximately 1 in every 2000 live female births,(1) so that in the UK the prevalence for any year of life is in the region of 200 girls. The condition is much more common in utero, it being estimated that 1-2% of all conceptuses are affected, of whom only 1% will survive to term.

摘要

特纳综合征可定义为表型女性至少一个细胞系中的第二条X染色体缺失或异常。这种情况在每2000例活产女婴中约有1例发生,(1)因此在英国,任何一年的患病率约为200名女孩。这种情况在子宫内更为常见,据估计,所有受精卵中有1%-2%会受到影响,其中只有1%能存活至足月。