Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant.

Abstract excerpt

Biallelic loss-of-function variants in the IYD gene cause hypothyroidism resulting from iodine wasting. We describe 8 patients (from 4 families in which the parents are first cousins) who are homozygous for a variant in IYD (including a novel missense deleterious variant, c.791C>T [P264L], in 1 family). Seven patients presented between 5 and 16 years of age with a large goiter, overt hypothyroidism, and a high...

Topics

Join the communities discussing this publication.

• Goiter
• Hypothyroidism
• Iodine
• Mutation, Missense
• Pedigree