Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children
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Doga Turkkahraman
,
Merve Gullu
,
Suat Tekin
und
Tarkan Kalkan
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.
Acknowledgments
We gratefully thank the study participants for their contribution.
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Research ethics: The study protocol was approved by the local Institutional Review Board (no: 2017-9/15). The study was conducted according to the principles of the Declaration of Helsinki.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: Concept and design: DT, Data collection or Processing: DT, MG, TK, Analysis and Interpretation: TK, DT, Literature Search: MG, DT, ST, Writing: DT, MG, ST. All authors critically revised the manuscript and approved the final version.
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Competing interests: The authors declare that they have no conflict of interests.
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Research funding: The study was funded by the University of Health Science, Antalya Training and Research Hospital, project number: 20177-116.
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Data availability: Not applicable.
References
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Incidences of newly diagnosed childhood diabetes and onset severity: a multicenter regional study in Thailand over two decades and during the COVID-19 pandemic
- Exploring ketoacidosis frequency and risk factors in childhood-onset type 1 diabetes: an 8-year retrospective study (2011–2018) at a tertiary paediatric hospital in Tripoli, Libya
- Automated insulin delivery in children with type 1 diabetes during physical activity: a meta-analysis
- Association between maternal and cord blood thyroid hormones, and urine iodine concentration with fetal growth
- Post hoc subgroup analysis of Asian children with paediatric GHD from the global phase 3 efficacy and safety study of once-weekly somatrogon vs. once-daily somatropin
- Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children
- A novel useful marker in the early discrimination of transient hyperthyrotropinemia/hypothyroxinemia and congenital hypothyroidism in preterm infants: thyroid-stimulating hormone/free thyroxine ratio
- Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye
- Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010–2011
- Trajectory of the body mass index of children and adolescents attending a reference mental health center
- Case Reports
- Prenatal presentation of a hyperfunctioning thyroid nodule
- A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
- Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development
- Use of [18F]fluorocholine PET/CT in the detection of primary hyperparathyroidism in paediatrics: a case report
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Incidences of newly diagnosed childhood diabetes and onset severity: a multicenter regional study in Thailand over two decades and during the COVID-19 pandemic
- Exploring ketoacidosis frequency and risk factors in childhood-onset type 1 diabetes: an 8-year retrospective study (2011–2018) at a tertiary paediatric hospital in Tripoli, Libya
- Automated insulin delivery in children with type 1 diabetes during physical activity: a meta-analysis
- Association between maternal and cord blood thyroid hormones, and urine iodine concentration with fetal growth
- Post hoc subgroup analysis of Asian children with paediatric GHD from the global phase 3 efficacy and safety study of once-weekly somatrogon vs. once-daily somatropin
- Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children
- A novel useful marker in the early discrimination of transient hyperthyrotropinemia/hypothyroxinemia and congenital hypothyroidism in preterm infants: thyroid-stimulating hormone/free thyroxine ratio
- Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye
- Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010–2011
- Trajectory of the body mass index of children and adolescents attending a reference mental health center
- Case Reports
- Prenatal presentation of a hyperfunctioning thyroid nodule
- A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
- Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development
- Use of [18F]fluorocholine PET/CT in the detection of primary hyperparathyroidism in paediatrics: a case report
