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Article

Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.

Endocrine - 1 Feb 2021

Szczepanek-Parulska Ewelina, Budny Bartłomiej, Borowczyk Martyna, Zawadzka Katarzyna, Sztromwasser Paweł, Ruchała Marek

Abstract excerpt

PURPOSE: Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis, affecting 0.05-0.5% population. The aim of the study was an identification of genetic factors responsible for thyroid maldevelopment in two siblings with THA. METHODS: We evaluated a three-generation THA family with two sisters presenting the disorder. Proband (Patient II:3) was diagnosed at the age...

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Identifiers

PMID: 32696176
DOI: 10.1007/s12020-020-02422-1
PMCID: PMC7881956

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