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

Autor:	Boros E; Paediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), 1020 Bruxelles, Belgium., Vilain C; Genetics Department, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), 1020 Bruxelles, Belgium., Driessens N; Department of Endocrinology, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (HUB), CUB Hôpital Erasme, Bruxelles 1070, Belgium., Heinrichs C; Paediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), 1020 Bruxelles, Belgium., Van Vliet G; Endocrinology Service and Research Center, Ste-Justine Hospital, Department of Paediatrics, Université de Montréal, Montreal, Québec 3175, Canada., Brachet C; Paediatric Endocrinology Unit, Université Libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B.), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), 1020 Bruxelles, Belgium.
Jazyk:	angličtina
Zdroj:	European journal of endocrinology [Eur J Endocrinol] 2024 Aug 05; Vol. 191 (2), pp. K5-K9.
DOI:	10.1093/ejendo/lvae100
Abstrakt:	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 serum thyroglobulin. The goiter subsided with levothyroxine therapy in most. Upon stopping levothyroxine in 5 patients, goiter and hypothyroidism reappeared in 3. In these 3 patients, a rising serum thyroglobulin concentration preceded hypothyroidism and goiter and urinary iodine excretion was low. In patients who remained euthyroid, urinary iodine was normal. In conclusion, these patients bearing biallelic pathogenic variants in IYD developed a large goiter, a high serum thyroglobulin, and overt hypothyroidism when their iodine intake was low. Competing Interests: Conflict of interest: C.H., N.D., and C.B. are members of the MTG-8 Study Group of the European Reference Network for Rare Endocrine Disease, Endo-ERN. (© The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
Databáze:	MEDLINE
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