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Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.
Int J Neonatal Screen
November 2024
Department of Pediatrics, Chongqing Health Center for Women and Children, Women and Children's Hospital of Chongqing Medical University, Chongqing 401147, China.
Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021.
View Article and Find Full Text PDFVitiligo: Clinical and Laboratory Characteristics in 573 Saudi Patients.
Clin Cosmet Investig Dermatol
December 2024
Division of Dermatology, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Background: Vitiligo is a common disease. Limited studies in Saudi Arabia have explored the detailed clinical characteristics of vitiligo, as outlined in recent consensus reports by vitiligo experts.
Objective: To determine vitiligo prevalence and detailed clinical characteristics in a Saudi cohort.
Impact of rs2046045 SNP in PDE8B on TSH Levels: Insights into Genetic Susceptibility to Hypothyroidism.
Biochem Genet
December 2024
Department of Biochemistry, Kurukshetra University, Kurukshetra, Haryana, 136119, India.
Hypothyroidism is the most prevalent thyroid disorder and leads to adverse effects on the human body. Serum thyroid stimulating hormone (TSH) values have been related to polymorphisms in multiple genes that may be involved in the regulation of thyroid function. The single nucleotide polymorphism (SNP) rs2046045 is situated in the intron region of the phosphodiesterase 8B (PDE8B) gene, which encodes a high-affinity cyclic adenosine monophosphate (cAMP)-specific phosphodiesterase widely expressed in thyroid tissue.
View Article and Find Full Text PDFThe relationship between excessive iodine during pregnancy and adverse pregnancy complications.
Endocrine
December 2024
Department of Endocrinology and Metabolism, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Purpose: Iodine nutrition during pregnancy plays an important role in fetal development and maternal outcomes. Iodine deficiency has been proved to be associated with maternal thyroid dysfunction, adverse fetal outcomes and neurodevelopmental disorders in offspring. At present, there are few studies concentrate on the effects of iodine excess during pregnancy on thyroid function, maternal and neonatal outcomes, and the results are still controversial.
View Article and Find Full Text PDFCentral hypothyroidism caused by roxadustat.
Tidsskr Nor Laegeforen
December 2024
Nyremedisinsk seksjon, Medisinsk klinikk, Sykehuset i Vestfold, Tønsberg.
Background: Isolated central hypothyroidism, although rare, has been documented in case reports in patients with chronic kidney disease (CKD) treated with roxadustat, a novel agent in the treatment of renal anaemia.
Case Presentation: A woman in her sixties with CKD stage 5 (not in dialysis) and no prior thyroid disease, was started on treatment with roxadustat 70 mg x 3 weekly for renal anaemia. During treatment, the patient developed classic signs of hypothyroidism (fatigue, dry skin, constipation, difficulty concentrating), with blood samples consistent with isolated central hypothyroidism.
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