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2017 ; 2017
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Euthyroid athyroxinemia - a novel endocrine syndrome
#MMPMID28567292
Woodhouse N
; Bahowairath F
; Elshafie O
Endocrinol Diabetes Metab Case Rep
2017[]; 2017
(ä): ä PMID28567292
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A 55-year-old female was referred with abnormal thyroid function tests (TFTs);
the free thyroxine level (FT4) was undetectable <3.3?pmol/L (normal: 7.9-14.4),
while her FT3, TSH and urinary iodine levels were normal. She was clinically
euthyroid with a large soft lobulated goitre that had been present for more than
thirty years. She received an injection of recombinant human TSH (rhTSH)
following which there was a progressive rise of the FT3 and TSH levels to
23?pmol/L and >100?mIU/L respectively at 24?h, The FT4 however remained
undetectable throughout. Being on thyroxine 100?µg/day for one month, her FT4
level increased to 15?pmol/L and TSH fell to 0.08?mIU/L. Four years earlier at
another hospital, her FT4 level had been low (6.8?pmol/L) with a normal TSH and a
raised Tc-99 uptake of 20% (normal<4%). We checked the TFTs and Tc-99 scans in 3
of her children; one was completely normal and 2 had euthyroid with soft
lobulated goitres. Their Tc-99 scan uptakes were raised at 17% and 15%, with
normal TFTs apart from a low FT4 7.2?pmol/L in the son with the largest thyroid
nodule. This is a previously unreported form of dyshormonogenesis in which, with
time, patients gradually lose their ability to synthesize thyroxine (T4) but not
triiodothyroxine (T3). LEARNING POINTS: This is a previously unreported form of
dyshormonogenetic goitre.This goitre progressively loses its ability to
synthesize T4 but not T3.The inability to synthesize T4 was demonstrated by
giving rhTSH.