Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in <i>ALB</i> gene in Turkish children-Reference-Cited by-同舟云学术

Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children

Published:2024-05-14 Issue:6 Volume:37 Page:532-535
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Turkkahraman Doga¹^ORCID,Gullu Merve¹^ORCID,Tekin Suat¹^ORCID,Kalkan Tarkan²^ORCID

Affiliation:

1. Department of Pediatric Endocrinology , 218503 University of Health Sciences, Antalya Training and Research Hospital , Antalya , Türkiye

2. Bio-Gen, Genetic Diseases Evaluation Center , Antalya , Türkiye

Abstract

Abstract Objectives To investigate albumin (ALB) gene variations in patients suspected from familial dysalbuminemic hyperthyroxinemia (FDH). Methods Eight Turkish patients were included into the study. Clinical and laboratory characteristics of the subjects and their parents were evaluated and genetic analysis were performed. Results In genetic analysis, a previously reported heterozygous, c.725G>A variant was detected in exon seven of the ALB gene. Conclusions FDH is an asymptomatic condition however there is still a risk of misdiagnosis and unnecessary treatment. Therefore, if FDH is considered, initial ALB hotspot sequencing as a rapid and simple method is recommended instead of complex and expensive laboratory and imaging techniques.

Publisher

Walter de Gruyter GmbH

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2023-0506/pdf

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