The wide spectrum of DUOX2 deficiency: from life-threatening compressive goiter in infancy to lifelong euthyroidism

Gabrielle Dufort,Stéphanie Larrivée-Vanier,Dardye Eugène,Xavier De Deken,Britta Seebauer,Karl Heinimann,Sébastien Lévesque,Serge Gravel,Gabor Szinnai,Guy Van Vliet,Johnny Deladoëy

The wide spectrum of DUOX2 deficiency: from life-threatening compressive goiter in infancy to lifelong euthyroidism

2019

Gabrielle Dufort
Stéphanie Larrivée-Vanier
Dardye Eugène
Xavier De Deken
Britta Seebauer
Karl Heinimann
Sébastien Lévesque
Serge Gravel
Gabor Szinnai
Guy Van Vliet
Johnny Deladoëy

We describe six patients with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly...

Keywords:

Internal medicine
Endocrinology
Diabetes mellitus
Pediatrics
Medicine
Goiter
Congenital hypothyroidism
Respiratory distress
french canadian
Hypothyroid Goiter
Airway Compromise

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