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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
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Thyroid Research

ISSN: 1756-6614