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Article

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.

Hormone research in paediatrics - 1 Jan 2022

Fourneaux Rachel, Castets Sarah, Godefroy Alice, Grelet Maude, Abeillon-du Payrat Juliette, Saveanu Alexandru, Castinetti Frederic, Reynaud Rachel

Abstract excerpt

INTRODUCTION: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we describe four familial cases with a variable presentation due to a novel IGSF1 pathogenic variant. CASE PRESENTATION: In the index case, an investigation at birth of a suspected brain-lung-thyroid syndrome surprisingly revealed a...

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PMID: 35350016
DOI: 10.1159/000524233

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