Publications by authors named "D Yeste"
Article Synopsis
- Genetic defects in the TSH receptor can lead to various thyroid issues, such as thyroid dysgenesis or dyshormonogenesis, resulting in a wide range of symptoms from severe congenital hypothyroidism to mild hormonal imbalances.
- A study analyzed 160 pediatric patients with thyroid dyshormonogenesis using high-throughput gene panels and in vitro tests to assess the impact of recognized genetic variants on thyroid function.
- The findings showed that out of the patients studied, 3.13% had significant genetic variants affecting their thyroid health, with different variants exhibiting varying levels of functional impact, underscoring the necessity of genetic testing for accurate diagnosis.
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype-phenotype correlation in patients with THD and candidate variants in .
View Article and Find Full Text PDFIntroduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to () gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with variants.
View Article and Find Full Text PDFBackground: Patients with Cushing syndrome (CS) are at increased risk of venous thromboembolism (VTE).
Objective: The aim was to evaluate the current management of new cases of CS with a focus on VTE and thromboprophylaxis.
Design And Methods: A survey was conducted within those that report in the electronic reporting tool (e-REC) of the European Registries for Rare Endocrine Conditions (EuRRECa) and the involved main thematic groups (MTG's) of the European Reference Networks for Rare Endocrine Disorders (Endo-ERN) on new patients with CS from January 2021 to July 2022.
Background: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs, with the most frequent being prolactinomas.
View Article and Find Full Text PDF