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Endocrinal dysfunction in children with Down syndrome.唐氏综合征患儿的内分泌功能障碍。
Ann Pediatr Endocrinol Metab. 2022 Mar;27(1):15-21. doi: 10.6065/apem.2142236.118. Epub 2022 Mar 31.
2
Thyroid Disorders in Subjects with Down Syndrome: An Update.唐氏综合征患者的甲状腺疾病：最新进展
Acta Biomed. 2018 Mar 27;89(1):132-139. doi: 10.23750/abm.v89i1.7120.
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Investigation of common risk factors between polycystic ovary syndrome and Alzheimer's disease: a narrative review.多囊卵巢综合征与阿尔茨海默病共同风险因素的研究：一项叙述性综述。
Reprod Health. 2021 Jul 26;18(1):156. doi: 10.1186/s12978-021-01203-x.
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Hidradenitis suppurativa and Down syndrome: A systematic review and meta-analysis.化脓性汗腺炎与唐氏综合征：一项系统评价与荟萃分析。
Pediatr Dermatol. 2020 Nov;37(6):1044-1050. doi: 10.1111/pde.14326. Epub 2020 Sep 6.
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Supraglottoplasty in the management of laryngomalacia in children with down syndrome: A systematic review.儿童唐氏综合征合并喉软化症的杓状软骨切除术治疗：系统评价。
Int J Pediatr Otorhinolaryngol. 2021 Mar;142:110630. doi: 10.1016/j.ijporl.2021.110630. Epub 2021 Jan 16.
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Multiorgan involvement and management in children with Down syndrome.唐氏综合征患儿的多器官受累及管理
Acta Paediatr. 2020 Jun;109(6):1096-1111. doi: 10.1111/apa.15153. Epub 2020 Jan 24.
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Prevalence of thyroid dysfunctions in infants and children with Down Syndrome (DS) and the effect of thyroxine treatment on linear growth and weight gain in treated subjects versus DS subjects with normal thyroid function: a controlled study.唐氏综合征（DS）患儿甲状腺功能障碍的患病率以及甲状腺素治疗对接受治疗的患儿与甲状腺功能正常的DS患儿线性生长和体重增加的影响：一项对照研究。
Acta Biomed. 2019 Sep 23;90(8-S):36-42. doi: 10.23750/abm.v90i8-S.8503.
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Beyond the black stump: rapid reviews of health research issues affecting regional, rural and remote Australia.超越黑木树：影响澳大利亚地区、农村和偏远地区的健康研究问题的快速综述。
Med J Aust. 2020 Dec;213 Suppl 11:S3-S32.e1. doi: 10.5694/mja2.50881.
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Dental Caries Experience among Down's Syndrome Population in Saudi Arabia - A Systematic Review.沙特阿拉伯唐氏综合征人群的龋齿患病情况——系统评价。
Niger J Clin Pract. 2021 Aug;24(8):1109-1116. doi: 10.4103/njcp.njcp_492_20.
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Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand.唐氏综合征活产儿的合并症与医疗保健干预：来自泰国南部出生缺陷登记处的初步经验。
World J Pediatr. 2017 Apr;13(2):152-157. doi: 10.1007/s12519-016-0093-z. Epub 2017 Jan 15.
引用本文的文献
1
Severe Early-Onset Pulmonary Hypertension in a Six-Month-Old With Down Syndrome and Isolated Secundum Atrial Septal Defect.一名患有唐氏综合征和单纯继发孔型房间隔缺损的6个月大婴儿的重度早发型肺动脉高压
Cureus. 2025 May 13;17(5):e84019. doi: 10.7759/cureus.84019. eCollection 2025 May.
2
Testosterone replacement therapy and spermatogenesis in reproductive age men.生殖年龄男性的睾酮替代疗法与精子发生
Nat Rev Urol. 2025 May 9. doi: 10.1038/s41585-025-01032-8.
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Prevalence and impact of endocrinopathies on growth in pediatric down syndrome patients: A retrospective analysis.内分泌疾病对小儿唐氏综合征患者生长发育的患病率及影响：一项回顾性分析。
Saudi Med J. 2025 Apr;46(4):364-371. doi: 10.15537/smj.2025.46.4.20241117.
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Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.21 三体综合征与先天性心脏病：从出生到青少年时期对健康和功能结局的影响：美国心脏协会的科学声明。
J Am Heart Assoc. 2024 Oct;13(19):e036214. doi: 10.1161/JAHA.124.036214. Epub 2024 Sep 12.
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Weight Loss Improved Hypothalamic GH Deficiency but not Hypogonadotropic Hypogonadism in a Man With Down Syndrome.体重减轻改善了一名唐氏综合征男性的下丘脑生长激素缺乏症，但未改善促性腺激素缺乏性性腺功能减退症。
JCEM Case Rep. 2024 Jul 18;2(7):luae114. doi: 10.1210/jcemcr/luae114. eCollection 2024 Jul.
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Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.唐氏综合征儿童和青少年的内分泌、生长学及代谢特征：从婴儿期到步入成年生活的最初阶段
Front Endocrinol (Lausanne). 2024 Apr 8;15:1348397. doi: 10.3389/fendo.2024.1348397. eCollection 2024.
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Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.Rett 综合征患者队列中内分泌疾病的患病率：一项两中心观察性研究。
Genes (Basel). 2024 Feb 24;15(3):287. doi: 10.3390/genes15030287.
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Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis.解析唐氏综合征：从基因异常到人工智能辅助诊断
Biomedicines. 2023 Dec 12;11(12):3284. doi: 10.3390/biomedicines11123284.
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Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.新生儿半乳糖血症、唐氏综合征和复杂心脏畸形：病例报告。
Medicina (Kaunas). 2023 Apr 28;59(5):856. doi: 10.3390/medicina59050856.
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Pediatric Population with Down Syndrome: Obesity and the Risk of Cardiovascular Disease and Their Assessment Using Omics Techniques-Review.唐氏综合征患儿群体：肥胖与心血管疾病风险及其组学技术评估——综述
Biomedicines. 2022 Dec 12;10(12):3219. doi: 10.3390/biomedicines10123219.
本文引用的文献
1
Early Onset of Autoimmune Diabetes in Children with Down Syndrome-Two Separate Aetiologies or an Immune System Pre-Programmed for Autoimmunity?唐氏综合征患儿自身免疫性糖尿病的早期发病——两种不同病因还是免疫系统预先设定了自身免疫？
Curr Diab Rep. 2020 Aug 25;20(9):47. doi: 10.1007/s11892-020-01318-8.
2
Deciphering short stature in children.解读儿童身材矮小问题。
Ann Pediatr Endocrinol Metab. 2020 Jun;25(2):69-79. doi: 10.6065/apem.2040064.032. Epub 2020 Jun 30.
3
Multiorgan involvement and management in children with Down syndrome.唐氏综合征患儿的多器官受累及管理
Acta Paediatr. 2020 Jun;109(6):1096-1111. doi: 10.1111/apa.15153. Epub 2020 Jan 24.
4
Subclinical Hypothyroidism: A Review.亚临床甲状腺功能减退症：综述。
JAMA. 2019 Jul 9;322(2):153-160. doi: 10.1001/jama.2019.9052.
5
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.21 三体综合征是一种永久性新生儿糖尿病的病因，该病为自身免疫性疾病，但与 HLA 无关。
Diabetes. 2019 Jul;68(7):1528-1535. doi: 10.2337/db19-0045. Epub 2019 Apr 8.
6
Thyroid Disorders in Subjects with Down Syndrome: An Update.唐氏综合征患者的甲状腺疾病：最新进展
Acta Biomed. 2018 Mar 27;89(1):132-139. doi: 10.23750/abm.v89i1.7120.
7
Analysis of current thyroid function test ordering practices.当前甲状腺功能测试医嘱开具实践的分析。
J Eval Clin Pract. 2018 Apr;24(2):347-352. doi: 10.1111/jep.12846. Epub 2017 Nov 3.
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Down Syndrome-Associated Diabetes Is Not Due To a Congenital Deficiency in Cells.唐氏综合征相关糖尿病并非由于细胞先天性缺陷所致。
J Endocr Soc. 2017 Jan 1;1(1):39-45. doi: 10.1210/js.2016-1042. Epub 2017 Jan 12.
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Bone mineral density in adults with Down syndrome.唐氏综合征成人的骨密度。
Osteoporos Int. 2017 Oct;28(10):2929-2934. doi: 10.1007/s00198-017-4133-x. Epub 2017 Jul 6.
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Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome
.一大群唐氏综合征患儿甲状腺异常的特征分析
Horm Res Paediatr. 2017;87(3):170-178. doi: 10.1159/000457952. Epub 2017 Mar 3.
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