hrp0089rfc5.6 | Thyroid | ESPE2018
Dufort Gabrielle
, Larrivee-Vanier Stephanie
, Eugene Dardye
, De Deken Xavier
, Heinimann Karl
, Szinnai Gabor
, Van Vliet Guy
, Deladoey Johnny
Background: Congenital hypothyroidism (CH) caused by DUOX2 deficiency has a wide range of clinical presentations and phenotype-genotype correlations are not always straightforward.Objective: To describe four children from Quebec with biallelic DUOX2 variants and widely variable phenotypes.Design/Methods: Case series of four children seen for evaluation of thyroid function at the endocrinology service of two university hospitals in ...