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多发性婴儿肝血管瘤所致严重消耗性甲状腺功能减退症

Severe consumptive hypothyroidism caused by multiple infantile hepatic haemangiomas.

作者信息

Simsek Enver, Demiral Meliha, Gundoğdu Elif

机构信息

Eskisehir Osmangazi University, School of Medicine, Department of Pediatric, Division of Pediatric Endocrinology, Meselik, Eskisehir, Turkey.

Eskisehir Osmangazi University, School of Medicine, Department of Radiology, Meselik, Eskisehir, Turkey.

出版信息

J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):823-827. doi: 10.1515/jpem-2018-0055.

Abstract

Background Infantile hepatic haemangiomas (IHHs) produce an excess of the thyroid hormone inactivating enzyme type-3 iodothyronine deiodinase (D3), leading to rapid degradation of thyroid hormones and consumptive hypothyroidism. The L-thyroxine replacement dose in patients with consumptive hypothyroidism is inappropriately higher than that in congenital hypothyroidism. Case presentation A 4-month-old boy presented with abdominal distention. Thyroid function tests (TFTs) revealed an elevated thyroid-stimulating hormone (TSH) level of 177 mU/L, normal free thyroxine (fT4) of 1.23 ng/dL, low free tri-iodothyronine (fT3) of 1.55 pg/mL and increased reverse T3 (rT3) of 1240 ng/dL. Abdominal ultrasound and magnetic resonance imaging (MRI) revealed multiple IHHs. Based on his TFTs, ultrasonography and MRI evidence, he was diagnosed with consumptive hypothyroidism, and L-thyroxine replacement at 15 μg/kg/day was started. The L-thyroxine dose was increased gradually to 35 μ/kg/day until a stabilising euthyroid status was achieved. By the age of 8 months, the TSH concentration was decreased to normal levels; the L-thyroxine dose was gradually reduced and finally discontinued at the age of 12 months. Repeat abdominal ultrasound and MRI revealed a reduction in the number and size of the haemangiomas. The TFTs were at normal reference levels. The patient remains in active follow-up. Conclusions Neonatal screening for congenital hypothyroidism is usually negative in cases of IHH, as seen in our case. A high index of suspicion is necessary to diagnose hypothyroidism in cases of IHH. The present case required very high doses of levothyroxine to achieve a euthyroid status. In cases of hypothyroidism in the first year of life with consumptive hypothyroidism caused by hepatic haemangioma, aggressive L-thyroxine replacement is required with no upper limit. The dose should be increased gradually until a stabilising euthyroid status is achieved.

摘要

背景

婴儿期肝血管瘤(IHHs)会产生过量的甲状腺激素失活酶3型碘甲状腺原氨酸脱碘酶(D3),导致甲状腺激素快速降解和消耗性甲状腺功能减退。消耗性甲状腺功能减退患者的左甲状腺素替代剂量不适当地高于先天性甲状腺功能减退患者。

病例报告

一名4个月大的男孩出现腹胀。甲状腺功能检查(TFTs)显示促甲状腺激素(TSH)水平升高至177 mU/L,游离甲状腺素(fT4)正常为1.23 ng/dL,游离三碘甲状腺原氨酸(fT3)低至1.55 pg/mL,反三碘甲状腺原氨酸(rT3)升高至1240 ng/dL。腹部超声和磁共振成像(MRI)显示多个婴儿期肝血管瘤。根据他的甲状腺功能检查、超声检查和MRI证据,他被诊断为消耗性甲状腺功能减退,并开始以15 μg/kg/天的剂量进行左甲状腺素替代治疗。左甲状腺素剂量逐渐增加至35 μg/kg/天,直至达到稳定的甲状腺功能正常状态。到8个月大时,TSH浓度降至正常水平;左甲状腺素剂量逐渐减少,最终在12个月大时停药。重复腹部超声和MRI显示血管瘤的数量和大小减少。甲状腺功能检查处于正常参考水平。该患者仍在积极随访中。

结论

如本病例所示,婴儿期肝血管瘤病例的先天性甲状腺功能减退新生儿筛查通常为阴性。对于婴儿期肝血管瘤病例,诊断甲状腺功能减退需要高度的怀疑指数。本病例需要非常高剂量的左甲状腺素才能达到甲状腺功能正常状态。在因肝血管瘤导致消耗性甲状腺功能减退的1岁以内甲状腺功能减退病例中,需要积极进行左甲状腺素替代治疗,且无上限。剂量应逐渐增加,直至达到稳定的甲状腺功能正常状态。

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