RESUMO
CONTEXT: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. OBJECTIVE: Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. METHODS: In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. RESULTS: From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P < 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P < 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. CONCLUSIONS: Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.
Assuntos
Deficiência Intelectual Ligada ao Cromossomo X/tratamento farmacológico , Transportadores de Ácidos Monocarboxílicos/deficiência , Hipotonia Muscular/tratamento farmacológico , Atrofia Muscular/tratamento farmacológico , Simportadores/deficiência , Tri-Iodotironina/análogos & derivados , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/sangue , Deficiência Intelectual Ligada ao Cromossomo X/genética , Pessoa de Meia-Idade , Transportadores de Ácidos Monocarboxílicos/genética , Hipotonia Muscular/sangue , Hipotonia Muscular/genética , Atrofia Muscular/sangue , Atrofia Muscular/genética , Mutação , Estudos Retrospectivos , Simportadores/genética , Resultado do Tratamento , Tri-Iodotironina/administração & dosagem , Tri-Iodotironina/efeitos adversos , Tri-Iodotironina/sangue , Adulto JovemRESUMO
Congenital teratoma is a rare condition and is a germ cell tumor composed of elements from one or more of the embryonic germ layers and contain tissues usually foreign to the anatomic site of origin. We report a case of a neck tumor diagnosed during pregnancy, initially thought to be a goiter. After birth the neck mass kept growing until it compressed the trachea and produced respiratory failure. The infant had a difficult tracheal intubation because of the compressing mass. The staff decided to surgically remove the neck mass. After that, the infant became eupneic. The histological analysis showed a mature teratoma with no atypias.