Resistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves' Disease.
Resistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves' Disease.
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DOI：
10.1016/j.aace.2023.02.003
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发表时间：
2023-05
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格雷夫斯病是一种自身免疫性疾病，与循环中的甲状腺激素(TH)水平高有关。甲状腺激素受体β(β)基因突变引起的甲状腺激素抵抗也会导致TH水平升高。在这里，我们描述了2个相关的病例，1名妇女患有Graves病，她的新生儿患有RTHβ。这名女性年龄27岁，游离甲状腺素(T4)(FT4)和GT；7.7 ng/dL(0.8-1.8)，三碘甲腺原氨酸1350 ng/dL(90-180)，未检测到促甲状腺激素(TSH)，但没有甲状腺毒症症状。她的甲状腺球蛋白抗体也有65(2-38)。她接受了他巴唑和阿替洛尔的治疗。新生儿筛查TSH43 mU/L[正常上限20 mU/L]，总T4 21.8mU/μg/dL(正常上限15)。出生6天时，新生儿FT4为12.3 ng/dL(0.9-2.3)，TSH未受抑制。这名3.5个月大的婴儿被确认携带从她父亲那里遗传的THRB突变(R438H)，但兄弟和母亲没有THRB突变。新生儿出现心动过速和生长迟缓，接受阿替洛尔和补充喂养治疗，导致体重增加和心率减慢。围产期高FT_4和心动过速可能与母亲TH水平升高和胎儿RTHβ升高有关。如果胎儿甲亢和母体甲亢在出生时没有得到早期诊断，则很难对新生儿甲亢的病因进行评估。
Graves’ disease is an autoimmune disease associated with high levels of circulating thyroid hormones (THs). Resistance to thyroid hormone beta (RTHβ) caused by mutations in the thyroid hormone receptor beta (THRB) gene also can lead to high TH levels. Here, we describe 2 related cases, one of a woman with Graves’ disease, and her newborn with RTHβ. The woman was 27 years of age, with free thyroxine (T4) (FT4) >7.7 ng/dL (0.8-1.8), triiodothyronine of 1350 ng/dL (90-180), and undetectable thyrotropin (TSH), but no symptoms of thyrotoxicosis. She also had thyroglobulin antibodies of 65 (2-38). She was treated with methimazole and atenolol. The newborn neonatal screen showed a TSH of 43 mU/L [upper limit of normal 20 mU/L] and total T4 of 21.8 μg/dL (upper limit of normal 15). At 6 days of age, the newborn had a FT4 of 12.3 ng/dL (0.9-2.3), and unsuppressed TSH. The infant, at 3.5 months of age, was identified to harbor a THRB mutation (R438H) inherited from her father, but the brothers and mother had no THRB mutation. The newborn had tachycardia and delayed growth and was treated with atenolol and supplemental feeding, resulting in weight gain and reduced heart rate. The perinatal high FT4 and tachycardia could have been influenced by the elevated TH levels of the mother and the fetal RTHβ. It is difficult to evaluate the etiology of neonatal hyperthyroidism when fetal RTHβ and maternal Graves’ disease are not diagnosed early at birth.