Suppr超能文献

新生儿期起病的甲状腺功能亢进症中促甲状腺激素受体基因 TSHRV656F 激活突变:病例分析。

TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review.

机构信息

İnönü University Faculty of Medicine, Department of Pediatric Endocrinology, Malatya, Turkey

Tekirdağ Namık Kemal University, Faculty of Science and Literature, Department of Molecular Biology and Genetics, Tekirdağ, Turkey

出版信息

J Clin Res Pediatr Endocrinol. 2022 Mar 3;14(1):114-118. doi: 10.4274/jcrpe.galenos.2020.2020.0229. Epub 2021 Jan 14.

Abstract

An activating variant of the thyroid stimulating hormone receptor () gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating variant. A female infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs. The patient’s mother did not have Graves’ disease, and stimulating antibodies were not present in the mother or baby. Imaging showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the gene. The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of the TSH receptor, no previous cases of neonatal hyperthyroidism due to variant have been reported. This study is the first case review that highlights the relationship between variant and neonatal onset NAH.

摘要

促甲状腺激素受体(TSHR)基因的激活变体是新生儿甲状腺功能亢进症的罕见原因之一。这种疾病可能是常染色体显性遗传,也可能是通过新生变异偶然发生的。在这里,我们报告了一例散发性胚系激活突变导致的新生儿先天性非自身免疫性甲状腺功能亢进症(NAH)。一名女性婴儿在出生后第一周因甲状腺功能亢进而被转院,除了甲状腺功能亢进外,没有其他症状或体征。患者的母亲没有格雷夫斯病,母亲和婴儿均不存在促甲状腺激素刺激抗体。影像学检查显示甲状腺增生和左心室肥厚,随后患者接受了甲巯咪唑治疗。经过六个月的治疗,在该基因的第 10 外显子上检测到杂合子 p.Val656Phe(V656F)(c.1966G>T)变体。该变体在母亲和父亲中均未被识别,因此该病例被认为是散发性的。总之,尽管文献描述 V656F 变体在儿童和成人有毒甲状腺结节中是一种体细胞变体,导致 TSH 受体的结构激活,但尚未有新生儿甲状腺功能亢进症由 TSHR 变体引起的报道。本研究首次综述了 TSHR 变体与新生儿 NAH 发病之间的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/519a/8900074/47ee203fa264/JCRPE-14-114-g1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验