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Table 1 Patient’s diagnostic and management odyssey

From: Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones

Date Symptoms T4
fT4
T3
fT3
TSH TAB Size Treatment
6/91 nervous, palpitation, sweating > 200
n/a
4.2
n/a
1.4 aMS+ N start tiamazol
9/91 feeling better < 47
n/a
n/a n/a n/a 2.5 N reduced tiamazol
3/92 no symptoms > 320
n/a
4.0
n/a
1.9 n/a 2.5 N 2 months no treatm ? high ThyH carriers
4/93 tremor, tachycardia, weight loss > 340
n/a
n/a 2.1 n/a n/a start tiamazol
6/93 no change 279
n/a
n/a n/a n/a n/a discontinued ? high ThyH carriers
1/94 nervous tachycardia 257
38
n/a 1.4 n/a n/a start tiamazol
5/94 asymptomatic 173
n/a
n/a n/a n/a n/a discontinued
9/94 asymptomatic 228
46
2.2
n/a
1.2 n/a n/a metimazol
11/94 asymptomatic 206
28
2.2
n/a
1.4 n/a n/a discontinued ? ThyH resistance
9/96 asymptomatic 250
93
2.1
14
1.9 n/a n/a no treatment
  TRH test following 7 days T3 overload – normal TSH response (basal TSH 0.23, 30′ 2.1, 60′ 1.2, 90′ 0.89)
DNA sent to overseas lab for genetic testing, returned no result.
until 8/2007   to 184
to 79
to 3.2
to 9.5
to 2.7 aHTG 37.5
aTPO 1642
N firm no treatment ? HT
until 12/2015 lost to follow up
RA on MTX, bioTx
sought international thyroid expertise, diagnosed and treated for thyrotoxicosis due to elevated fT4, fT3 and despite unsuppressed TSH
12/15 tired, slow
weight gain
n/a
31.4
n/a
14.3
5.6 n/a firm hyperECH ThyH replacement
Hypothyroid HT
2018 Patient recruited in an international study of genetics of autoimmunity and underwent whole exome sequencing providing genetic confirmation of the RTH (pathogenic variant in THB, p.Arg338Trp).
2019        
  1. Abbreviations and normal laboratory values: TRH – thyrotropin releasing hormone, RA – rheumatoid arthritis, MTH – methotrexate, T4 – total T4 (units μg/ml, normal 5–14.1), fT4 – free T4 (units pmol/L, normal 11–21), T3 – total T3 (units ng/ml, normal 0.8–2.1), fT3 – free T3 (units pmol/L, normal 3.1–6.0), TSH (units mU/ml, normal 0.4–4.3), ThyH – thyroid hormone(s), aMS – antimicrtosomal antibodies, aHTG – antihuman thyroglobulin antibodies, aTPO – antitissue peroxidase antibodies, hyperECH – hyperechogenic, HT – Hashimoto thyroiditis, RTH – resistance to thyroid hormones, THB – thyroid hormone receptor, beta subunit, n/a – not assessed