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特纳综合征:最新研究进展。

Turner Syndrome: An Update.

机构信息

NYU Langone Health-Long Island, 101 Mineola Boulevard, Mineola, NY 11501, USA.

NYU Langone Health-Long Island, 101 Mineola Boulevard, Mineola, NY 11501, USA.

出版信息

Adv Pediatr. 2022 Aug;69(1):177-202. doi: 10.1016/j.yapd.2022.03.004. Epub 2022 Jun 17.

DOI:10.1016/j.yapd.2022.03.004
PMID:35985709
Abstract

Turner syndrome is the most common sex chromosome abnormality in women. Infertility and short stature are the most striking findings seen in these patients. Unfortunately, many girls are still being diagnosed too late and therefore early diagnosis and treatment key. Turner syndrome affects many systems of the body; therefore, a comprehensive approach is key for therapeutic intervention.

摘要

特纳综合征是女性中最常见的性染色体异常。在这些患者中,最显著的发现是不孕和身材矮小。不幸的是,许多女孩仍然被诊断得太晚,因此早期诊断和治疗至关重要。特纳综合征影响身体的许多系统;因此,全面的治疗方法是治疗干预的关键。

相似文献

1
Turner Syndrome: An Update.特纳综合征:最新研究进展。
Adv Pediatr. 2022 Aug;69(1):177-202. doi: 10.1016/j.yapd.2022.03.004. Epub 2022 Jun 17.
2
Novel insights in Turner syndrome.特纳综合征的新见解。
Curr Opin Pediatr. 2022 Aug 1;34(4):447-460. doi: 10.1097/MOP.0000000000001135. Epub 2022 Jul 5.
3
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.特纳综合征成人患者的识别与管理:从青春期过渡到老年。
Am J Med Genet A. 2019 Oct;179(10):1987-2033. doi: 10.1002/ajmg.a.61310. Epub 2019 Aug 16.
4
Medically underserved girls receive less evaluation for short stature.医疗资源不足地区的女孩在身材矮小方面接受的评估较少。
Pediatrics. 2011 Apr;127(4):696-702. doi: 10.1542/peds.2010-1563. Epub 2011 Mar 21.
5
Age at and indication for diagnosis of Turner syndrome in the pediatric population.儿科人群中 Turner 综合征的诊断年龄和适应证。
Am J Med Genet A. 2021 Nov;185(11):3411-3417. doi: 10.1002/ajmg.a.62459. Epub 2021 Aug 13.
6
Turner syndrome: mechanisms and management.特纳综合征:发病机制与治疗。
Nat Rev Endocrinol. 2019 Oct;15(10):601-614. doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18.
7
[Turner syndrome in the hôpital du Mali, a case].[马里医院的特纳综合征,一例病例]
Mali Med. 2018;33(2):21-22.
8
Turner syndrome: diagnosis and management.特纳综合征:诊断与管理
Am Fam Physician. 2007 Aug 1;76(3):405-10.
9
Turner syndrome: From birth to adulthood.特纳综合征:从出生到成年
Endocrinol Nutr. 2015 Dec;62(10):499-506. doi: 10.1016/j.endonu.2015.06.010. Epub 2015 Aug 19.
10
Epidemiological, endocrine and metabolic features in Turner syndrome.特纳综合征的流行病学、内分泌及代谢特征
Eur J Endocrinol. 2004 Dec;151(6):657-87. doi: 10.1530/eje.0.1510657.

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Growth hormone signaling and clinical implications: from molecular to therapeutic perspectives.生长激素信号传导及其临床意义:从分子到治疗的视角
Mol Biol Rep. 2025 Feb 4;52(1):202. doi: 10.1007/s11033-025-10304-w.
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Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children.
公共卫生领域的心血管疾病:先天性心脏病中的染色体异常导致儿童心源性猝死
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Multimodality Evaluation of Turner Syndrome With Right Ventricular Dilation and Partial Anomalous Pulmonary Venous Return.伴有右心室扩张和部分性肺静脉异位引流的特纳综合征的多模态评估
Cureus. 2024 Nov 18;16(11):e73955. doi: 10.7759/cureus.73955. eCollection 2024 Nov.
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Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.寻找“X”因素:探究原发性卵巢功能不全的遗传学。
J Ovarian Res. 2024 Nov 28;17(1):238. doi: 10.1186/s13048-024-01555-5.
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Thyrotoxic Myopathy with Nonspecific Ophthalmopathy in a Two-Year-Old Child: Case Report and Literature Review.一名两岁儿童的甲状腺毒症性肌病伴非特异性眼病:病例报告及文献综述
J Clin Med. 2024 Oct 17;13(20):6180. doi: 10.3390/jcm13206180.
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Neurodevelopmental Disorders Associated with Gut Microbiome Dysbiosis in Children.儿童肠道微生物群失调相关的神经发育障碍
Children (Basel). 2024 Jun 28;11(7):796. doi: 10.3390/children11070796.
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Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode.探索KCNH2错义变异对长QT综合征的影响:对一种新型性别选择性、不完全显性遗传模式的见解。
Front Genet. 2024 May 30;15:1409459. doi: 10.3389/fgene.2024.1409459. eCollection 2024.
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Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?接受生长激素和性激素治疗的特纳综合征青年患者患代谢综合征及其并发症的风险更高吗?
Biomedicines. 2024 May 8;12(5):1034. doi: 10.3390/biomedicines12051034.
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Cardiovascular Disease and Inpatient Complications in Turner Syndrome: A Propensity Score Analysis.特纳综合征患者的心血管疾病与住院并发症:倾向评分分析。
Tex Heart Inst J. 2024 May 15;51(1). doi: 10.14503/THIJ-23-8245.