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甲状腺半侧发育不全所致甲状腺功能减退症:一例报告

Hypothyroidism in Thyroid Hemiagenesis: A Case Report.

作者信息

Shah Rakesh Kumar, Bohara Gagan, Juveria Fnu, Mirza Lubna

机构信息

Internal Medicine, Kathmandu Medical College and Teaching Hospital, Kathmandu, NPL.

Internal Medicine, Sahid Memorial Hospital, Kathmandu, NPL.

出版信息

Cureus. 2022 Mar 12;14(3):e23087. doi: 10.7759/cureus.23087. eCollection 2022 Mar.

DOI:10.7759/cureus.23087
PMID:35464580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9001868/
Abstract

Thyroid hemiagenesis is one of the rare developmental abnormalities of the thyroid. It is more common in women and more commonly found on the left side, often associated with the absence of isthmus. In most instances, thyroid hemiagenesis is presented with hyperthyroidism. This case report aimed to present a 72-year-old female who presents with thyroid hemiagenesis and associated hypothyroidism. She was initially diagnosed with hypothyroidism about 25 years ago. There was no family history of thyroid disease, and she never underwent any neck, thyroid, or parathyroid surgeries. Her most recent laboratory investigations revealed thyroid-stimulating hormone level of 0.93 mIU/ml, free tetraiodothyronine of 0.93 mcg/dl, free triiodothyronine of 2.75 ng/dl, anti-thyroid peroxidase of 2.0 IU/ml, and thyroid-stimulating immunoglobulin of less than 1.0 IU/l. An ultrasound study of her neck revealed an absence of the left thyroid lobe and isthmus. The diagnosis of congenital thyroid hemiagenesis with hypothyroidism was made, and the current treatment with 75 mcg of levothyroxine was continued. Thyroid hemiagenesis is an incidental finding and may present later in life. Thyroid hemiagenesis is commonly associated with hyperthyroidism, but it can present with hypothyroidism. Patients with thyroid hemiagenesis may be at higher risk for developing hypothyroidism than their normal counterparts due to smaller thyroid hormone reserves.

摘要

甲状腺半侧发育不全是一种罕见的甲状腺发育异常。女性更为常见,且左侧更为多见,常伴有峡部缺如。在大多数情况下,甲状腺半侧发育不全表现为甲状腺功能亢进。本病例报告旨在介绍一名72岁女性,她患有甲状腺半侧发育不全并伴有甲状腺功能减退。她大约在25年前最初被诊断为甲状腺功能减退。没有甲状腺疾病家族史,她从未接受过任何颈部、甲状腺或甲状旁腺手术。她最近的实验室检查显示促甲状腺激素水平为0.93 mIU/ml,游离甲状腺素为0.93 mcg/dl,游离三碘甲状腺原氨酸为2.75 ng/dl,抗甲状腺过氧化物酶为2.0 IU/ml,促甲状腺素受体抗体小于1.0 IU/l。她颈部的超声检查显示左侧甲状腺叶和峡部缺如。诊断为先天性甲状腺半侧发育不全伴甲状腺功能减退,继续目前75 mcg左甲状腺素的治疗。甲状腺半侧发育不全是一个偶然发现,可能在生命后期出现。甲状腺半侧发育不全通常与甲状腺功能亢进有关,但也可能表现为甲状腺功能减退。由于甲状腺激素储备较少,甲状腺半侧发育不全的患者可能比正常同龄人患甲状腺功能减退的风险更高。

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Mutations in proteasome-related genes are associated with thyroid hemiagenesis.蛋白酶体相关基因的突变与甲状腺半侧发育不全相关。
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