Table of Contents

HK J Paediatr (New Series)
Vol 15. No. 4, 2010

HK J Paediatr (New Series) 2010;15:299-301

Case Report

Monozygotic Twin Boys Concordant for Congenital Hypothyroidism: Two Cases
單卵雙生兄弟同患先天性甲狀腺功能減退症:兩例報告

HQ Mao, LL Yang, xw Huang, RL Yang, ZY Zhao


Abstract

Twins or multi-pregnancy is reported to have much higher risks for congenital hypothyroidism (CH), and most twins are discordant for CH. Monozygotic twins concordant for CH are rare. We describe two monozygotic twin-pairs concordant for CH. Filter paper screening was performed and a blood spot thyroid-stimulating hormone (TSH) value higher than 9 mU/L led to recall for whole blood evaluation. One of each twin pairs was normal at initial neonatal screening, while delayed TSH elevation and low T4 level were found in the diagnosis testing 2-3 weeks later. The L-thyroxine (L-T4) replacement therapy was initiated when the diagnosis was made. The initial dosage of L-T4 for the twins was 8 mg/d/kg. After 16 months of follow-up, thyroid function and development were all normal for the twin pairs.

雙胎兒及母親有多次懷孕史的胎兒有高風險會患先天性甲狀腺功能減退症(CH),然而,多數雙胎兒不一齊患上 CH,單卵雙生兄弟同患CH的報告罕見,我院有單卵雙生兄弟兩人同患CH 的病例,現報導如下:其中一例在驗血監測的全過程,濾紙篩查結果示其血斑促甲狀腺激素(TSH)水平均高於9 mU/L ,另一例同胞在最初的新生兒篩查結果示正常,2-3周後復查才發現TSH升高和T4水準低於正常。診斷CH後,就開始L-T4甲狀腺激素替代治療,此雙胎兒最初的L-T4治療量為8 μg/d/kg,經過16個月的治療隨訪,此雙胎兒的甲狀腺功能及生長發育均正常。

關鍵詞:先天性甲狀腺功能減退症、篩查策略、雙胎兒

 
 

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