18p缺失综合征女性患者的自身免疫性甲状腺疾病和垂体腺瘤1例报告及文献复习

IF 3.3 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM
Jingwen Ye, Yi Shu, Mingzhu Wang, Haizhao Luo, Weiqiang Liang, Qiuping Lu, Wen Mei, Jiajin Deng
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引用次数: 0

摘要

背景:18p缺失(18p-)综合征是一种罕见的染色体异常,具有广泛的表型。其主要临床特征为身材矮小、智力残疾和面部畸形,很少伴有自身免疫性甲状腺疾病(ATD)或垂体异常。在此,我们报告了第一例中国18p缺失患者,其表现为ATD和无功能垂体腺瘤。病例介绍:一位24岁的女性患者表现为严重的上睑下垂,智力障碍,甲状腺功能减退,伴有桥本甲状腺炎和无功能垂体腺瘤。g带核型检测到18号染色体短臂缺失(46,XX, del [18] [p11.1])。染色体微阵列分析显示染色体18p11.32p11.21缺失14.9 Mb,定义为arr[GRCh38]18p11.32p11.21(136227-15079295)x1。文献回顾显示,18p-综合征和ATD患者以女性为主,发病早(平均年龄15岁)。结论:18p-综合征与ATD和垂体异常有关。因此,内分泌系统评价和18p断点区遗传分析对预测患者预后有重要价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

Background: 18p deletion (18p-) syndrome is a rare chromosomal abnormality with a wide range of phenotypes. Its main clinical features are short stature, intellectual disability, and facial dysmorphism, which are rarely accompanied by autoimmune thyroid disease (ATD) or pituitary abnormalities. Herein, we report the first Chinese patient with a de novo 18p deletion who presented with ATD and non-functioning pituitary adenoma.

Case presentation: A 24-year-old female patient presented with severe ptosis, intellectual disability, hypothyroidism associated with Hashimoto's thyroiditis, and a non-functional pituitary adenoma. Deletion of the short arm of chromosome 18 was detected in a G-banded karyotyping (46, XX, del [18] [p11.1]). Chromosomal microarray analysis revealed a 14.9 Mb deletion in chromosome 18p11.32p11.21, defined as arr[GRCh38]18p11.32p11.21(136227-15079295)x1. The literature review indicated that patients with 18p- syndrome and ATD were predominantly female with early disease onset (mean age: 15 years).

Conclusions: 18p- syndrome is associated with ATD and pituitary abnormalities. Therefore, endocrine system evaluation and genetic analysis of the 18p breakpoint region are valuable for predicting patient prognosis.

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来源期刊
BMC Endocrine Disorders
BMC Endocrine Disorders ENDOCRINOLOGY & METABOLISM-
CiteScore
4.40
自引率
0.00%
发文量
280
审稿时长
>12 weeks
期刊介绍: BMC Endocrine Disorders is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of endocrine disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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