首页> 美国卫生研究院文献>Medicina >Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant
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Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

机译:由于新型甲状腺刺激激素受体疾病导致变种患有家族性非自身免疫常膜常染色体显性甲状腺功能亢进的患者中央TSH失效型患者

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摘要

Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activating TSHR variants demonstrated the same classical signs and symptoms of hyperthyroidism as seen in patients with Graves’ disease. Since 2012, ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences. Case Presentation. We presented a young adult male patient with a novel heterozygous TSHR disease-causing variant p.Arg418Lys (c.1253G>A) in the exon 10, who presented with a mild but progressive FNAH, with a follow-up since infancy. Discussion. Constantly suppressed TSH, including during the euthyreosis in childhood and hypothyreosis after iodine ablation therapy, suggested central dysregulation of the TSH secretion.
机译:背景和目标。家族性非自身免疫常染色体显性甲状腺功能亢进(FNAH)是儿童甲状腺功能亢进的罕见原因。它是由甲状腺刺激激素受体(TSHR)基因变体引起的。到目前为止,据报道,只有40个家庭。激活TSHR变体的患者展示了Graves疾病患者所见的甲状腺功能亢进症状和症状。自2012年起,建议避免复发甲状腺功能亢进及其后果。案例演示。我们在外显子10中介绍了一只新的杂合TSHR疾病导致变体P.ARG418(C.1253G> A),他呈现出一种温和但渐进的FNAH,自婴儿期以来随访。讨论。不断抑制TSH,包括在碘消融治疗后儿童时期和甲状腺症的Euthysreys期间,表明TSH分泌的中央失调。

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