Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA of gene on the risk of thyroid dysgenesis. A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing. More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis. PolyA of gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727785 | PMC |
http://dx.doi.org/10.1155/2017/2793205 | DOI Listing |
Am J Case Rep
December 2024
Department of Anatomical Pathology, Al Borg Medical Laboratories Center, Doha, Qatar.
BACKGROUND We present a rare case of an ectopic thyroid nodule hyperplasia, confirmed postoperatively after excision and histopathological examination of a chronic cervical mass. We discuss the different clinical and therapeutic features of this rare thyroid dysgenesis caused by a defect of migration of the gland along its normal way of descent. CASE REPORT A 48-year-old man with a history of hypertension and asthma presented with dysphagia and a progressively growing firm mass at the anterior part of his neck over the past 6 months.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
November 2024
Department of Pediatric Endocrinology, Chair of Pediatrics, Medical School of Firat University, Elazig, Türkiye.
Objectives: It was aimed to investigate the outcomes of babies referred to a tertiary health center in Turkey for evaluation primary congenital hypothyroidism (CH) through newborn screening.
Methods: The hospital files of 328 newborns who were referred for CH from newborn screening between June 2013 and June 2020 were retrospectively reviewed. The newborns were evaluated with their clinical characteristics at admission, as well as their follow-up data and final diagnoses.
Horm Res Paediatr
October 2024
Department of Pediatric Endocrinology, Erzurum City Hospital, University of Health Sciences, Erzurum, Turkey.
J Clin Res Pediatr Endocrinol
October 2024
University of Health Sciences, Izmir Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Türkiye.
Lowering of thyroid-stimulating hormone (TSH) cutoffs in newborn screening programs has created a management dilemma by leading to more frequent detection of neonates with elevated TSH concentrations due to false-positive results, transient neonatal hyperthyrotropinemia (NHT), and milder forms of congenital hypothyroidism. Current consensus guidelines recommend starting treatment if the venous TSH level is >20 mU/l in the face of a normal free thyroxin (FT4) level, which is an arbitrary threshold for treatment decisions. In countries such as Türkiye, where transient NHT may be more common due to iodine deficiency and/or overload, putting this recommendation into daily practice may lead to unnecessary and over treatments, long-term follow-ups, and increased workload and costs.
View Article and Find Full Text PDFClin Nucl Med
November 2024
Nuclear Medicine Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!