Introduction: Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect causing congenital hypothyroidism (CH). We aimed to characterize the long-term outcome of patients with TPO deficiency.
Methods: Clinical and genetic data were collected retrospectively.
Results: Thirty-three patients with primary CH caused by TPO deficiency were enrolled. The follow-up period was up to 43 years. Over time, 20 patients (61%) developed MNG. Eight patients (24%) underwent thyroidectomy: one of them had minimal invasive follicular thyroid carcinoma. No association was found between elevated lifetime TSH levels and the development of goiter over the years.
Conclusions: This cohort represents the largest long-term follow up of patients with TPO deficiency. Our results indicate that elevated TSH alone cannot explain the high rate of goiter occurrence in patients with TPO deficiency, suggesting additional factors in goiter development. The high rate of MNG development and the risk for thyroid carcinoma indicate a need for long-term follow up with annual ultrasound scans.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432017 | PMC |
http://dx.doi.org/10.3390/jcm10173898 | DOI Listing |
Scand J Trauma Resusc Emerg Med
December 2024
Medical University of Vienna, Department of Anaesthesia, Intensive Care Medicine and Pain Medicine, Division of General Anaesthesia and Intensive Care Medicine, Spitalgasse 23, 1090, Vienna, Austria.
Background: Emergency Medical Service crews are equipped with comprehensive emergency kits for routine care and to provide life-saving interventions in severely ill patients. While guidelines on contents and packing strategies of emergency kits for specific tasks and specialized situations exist, data for the design of out-of-hospital emergency kits in a general urban population is lacking. It may be possible to transfer the promising results of modern in-hospital packing strategies such as task-based package organization (TPO) to an Emergency Medical Service setting.
View Article and Find Full Text PDFBMC Endocr Disord
December 2024
Department of Biochemistry, Faculty of Medicine, Iran University of Medical Sciences, P.O. Box: 1449614525, Tehran, Iran.
Introduction: Many patients with polycystic ovary syndrome (PCOS) also experience thyroid disorders. There is a notable similarity in energy metabolism among PCOS, C1q/tumor necrosis factor (TNF)-related proteins (CTRP-5)deficiency, C3a/desArg (also known as acylation-stimulating protein (ASP)) deficiency, and hypothyroidism. This study aimed to investigate the relationship between serum levels of these factors and hypothyroidism in patients with PCOS.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of General and Transplant Surgery, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Turner syndrome (TS) is associated with thyroid disorders. Since the rate of thyroid disease among patients with this syndrome is significantly higher as compared to the general population, it seems vital to explore this particular area. This systematic and critical review was performed to evaluate thyroid function and autoimmunity in patients with Turner syndrome.
View Article and Find Full Text PDFDiagnostics (Basel)
November 2024
Department of the Structure and Function of Chromosomes, Institute of Molecular and Cellular Biology, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia.
Background/objectives: A modern classification distinguishes between two nosological entities posing an intermediate risk between differentiated and anaplastic carcinoma: poorly differentiated thyroid carcinoma and differentiated high-grade thyroid carcinoma. There are currently few studies searching for the preoperative molecular genetic markers of high-grade papillary thyroid carcinoma (PTC HG), primarily because of a recent WHO reclassification and singling out of a separate entity: high-grade follicular cell-derived nonanaplastic thyroid carcinoma. Therefore, this work was aimed at identifying PTC HG-specific microRNAs and mRNAs that reliably distinguish them from differentiated papillary thyroid carcinoma in preoperative cytology specimens (fine-needle aspiration biopsies).
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Division of Endocrinology and Diabetes/The Ohio State University/Nationwide Children's Hospital, Columbus, OH, USA.
Background: Kallmann syndrome (KS) is a rare genetic disorder marked by hypogonadotropic hypogonadism and either anosmia or hyposmia. It exhibits genetic heterogeneity, with mutations identified in only 30 % of cases, involving various genes such as KAL1, FGFR1, FGF8, CHD7, and SOX10. Here, we present a case of gonadotropin deficiency associated with KS, observed in both a mother and her daughter, the latter conceived through assisted reproductive technology using the mother's ovum.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!