文章摘要

特纳综合征合并1型糖尿病、桥本氏甲状腺炎及地中海贫血1例

作者: 1赵蕾, 2周建博, 1李如强, 1土旭东, 3丁竹, 2杨金奎
1 首都医科大学 附属北京友谊医院新华医院内分泌科,北京 101125
2 首都医科大学 附属北京同仁医院内分泌科,北京 100730
3 首都医科大学 附属北京友谊医院新华医院泌尿外科,北京 101125
通讯: 周建博 Email: jianbo.zhou@foxmail.com
DOI: 10.3978/j.issn.2095-6959.2018.08.038
基金: 国家自然科学基金(81670738,81561128015,81300650);北京市医院管理局青苗人才项目(QML20170204)。

摘要

本文报道1例成人同时患有特纳综合征、1型糖尿病、桥本氏甲状腺炎及地中海贫血。患者,女,幼年因身材矮小及青春期无月经来潮行染色体检查,诊断为特纳综合征。应用生长激素治疗及性激素治疗,维持第二性征及提升身高。患者智力未受影响,青少年期间未监测血常规及糖代谢。8年前出现口干、多饮、多尿,伴有体重下降,为典型“三多一少”症状,行24 h血糖监测,C肽释放功能基本为0,1型糖尿病诊断明确,开始胰岛素泵治疗,因血糖控制不佳,糖化血红蛋白8.2%。2017年7月24日以“1型糖尿病”收入院治疗,在住院检查过程中发现患者甲状腺功能异常,考虑桥本氏甲状腺炎,查血常规Hb正常,但红细胞平均体积(erythrocyte mean corpuscular volume,MCV),红细胞平均血红蛋白量(erythrocyte mean corpuscular hemoglobin,MCH)及红细胞平均血红蛋白浓度(erythrocyte mean corpuscular hemoglobin concentrat,MCHC)低于正常,贫血六项铁及铁蛋白正常,这种小细胞低色素贫血前期改变引起了临床医师的注意,经基因测定(β珠蛋白基因CDs71-72+A突变)证实为β地中海贫血。在该患者身上,特纳综合征及1型糖尿病临床表现比较突出,容易确诊及治疗,但其症状可能掩盖会一些特殊疾病,比如地中海贫血基因携带者。地中海贫血作为一种终身疾病,亦可引起性腺功能减退,继发自身免疫性甲状腺疾病。
关键词: 特纳综合征;1型糖尿病;地中海贫血;桥本氏甲状腺炎

Turner syndrome combined with type 1 diabetes mellitus, Hashimoto’s thyroiditis and thalassemia: A case report

Authors: 1ZHAO Lei, 2ZHOU Jianbo, 1LI Ruqiang, 1TU Xudong, 3DING Zhu, 2YANG Jinkui
1 Department of Endocrinology, Beijing Friendship Hospital, Xinhua Campus, Capital Medical University, Beijing 101125, China
2 Department of Endocrinology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
3 Department of Urology, Beijing Friendship Hospital, Xinhua Campus, Capital Medical University, Beijing 101125, China

CorrespondingAuthor: ZHOU Jianbo Email: jianbo.zhou@foxmail.com

DOI: 10.3978/j.issn.2095-6959.2018.08.038

Foundation: This work was supported by the National Natural Science Foundation (81670738, 81561128015

Abstract

We reported here the case of a Chinese adult between Turner syndrome, type 1 diabetes mellitus, Hashimoto’s thyroiditis and thalassemia. When she was young, her short stature and puberty without menstrual was observed, then for a chromosome examination. The diagnosis was turner syndrome and she was start on the growth hormone and sex hormone treatment, to maintain the second sexual characteristics and improve height. So luckily her intellectual was not be affected. She never monitored complete blood count and blood sugar level in the adolescence. Eight years ago, she developed some symptoms such as dry mouth, polydipsia, polyuria, accompanied by weight loss, these called typical “three more than one less” symptoms. Use 24 h of blood sugar level and result of the C-peptide release test was basically 0, type 1 diabetes was diagnosed and insulin pump treatment was started. On July 24, 2017, her blood sugar level significant increased and testing of HbA1c level was 8.2 %, we admitted her immediately to the hospital with type 1 diabetes. We found thyroid dysfunction and erythrocyte mean corpuscular volume (MCV), erythrocyte mean corpuscular hemoglobin (MCH), erythrocyte mean corpuscular hemoglobin concentrat (MCHC)’s level were lower than normal in the hospital. The small cell hypochromic anemia which our attention was identified as thalassemia by gene analysis (β-globin gene CDs71-72+A mutation). The clinical manifestation of Turner syndrome and type 1 diabetes was outstanding in the patient, and it was easily diagnosed and treated. But these may cover up some special diseases, such as thalassemia gene carriers. As a lifelong disease, thalassemia also can cause gonadal hypoplasia, and secondary autoimmune thyroid disease.
Keywords: Turner’s syndrome; type 1 diabetes mellitusl; thalassemia; Hashimoto’s thyroiditis

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