Endocrine Abstracts

More than 21 families with inactivating TSHR mutations have been published. Their phenotype varies from euthyroid hyperthyrotropinemia (compound heterozygous) to severe congenital hypothyroidism (homozygous) with thyroid hypoplasia.Current methods to precisely classify mutants with only a slight increase of the basal activity as constitutively active are limited. The results concerning the level of the basal activity can be influenced by the vector and/o...

There are three main applications for molecular genetic testing in thyroid pathology:1. As part of an integrated approach of careful clinical, ultrasound and FNBC assessment with local outcome data molecular analysis of fine needle biopsy cytology is able able to improve diagnostic outcomes for thyroid nodules by identifying patients with an indeterminate FNBC as most likely benign with < 5% false negatives and thus obviating diagnostic lobectomy or ...

Background: Iodine deficiency is the most important exogenous factor for the development of goiters and thyroid nodules. In addition, family and twin studies as well as linkage analyses and a genome-wide scan in 18 euthyroid goiter families suggest a genetic predisposition for euthyroid goiters. However, data about the inheritance of goiters are still contradictory. Therefore, we investigated goiter predisposition by a matched case control study.Patients...

Recent reports confirmed increased SSTR expression in the thyroid in some cases of Graves’ disease and hot nodules. It is still not known, whether SSTRs can frequently be found in other thyroid pathologies or normal thyroid glands. Therefore, we performed a systematic analysis of Ga-68-Dotatoc PET Scans for their thyroid image.Eighty-three consecutive patients undergoing Ga-68-Dotatoc PET were analysed for their relative thyroid uptake by ROI techni...

Objective: There are contradictory results regarding the possible association of the TSHR polymorphism D727E with TMNG. Furthermore the influence of smoking on the thyroid volume has been reported by several authors. A possible association of smoking with thyroid nodules and particularly TMNG has not been investigated up to date.Methods: In this study, 88 patients with TMNG were included. Diagnosis was verified by ultrasonography, scinthiscan, and measur...

Up to date, 12 patients with sporadic non-autoimmune hyperthyroidism (SNAH) caused by sporadic germline mutations in the TSHR gene have been reported. Nearly, all case reports discussed possible associations of the TSHR mutations in vitro activity (IVA) with the clinical course (CC). Therefore, we analyzed this question in a systematic review of the case reports and investigated the TSHR mutation’s IVA in selected cases.Recently, linear regre...

Objectives: In May 2016, the local thyroid cancer tumor group proposed and adopted specific thyroid lobectomy recommendations based on the 2015 ATA guidelines. ThyroSPEC molecular testing was introduced for all Bethesda III and IV lesions in August 2020. The goal of this study was to evaluate the implementation of the ATA lobectomy guidelines and the introduction of ThyroSPEC molecular testing on rates of upfront total thyroidectomy (TTx), diagnostic lobectomy for Bethesda I-I...

Objectives: To date, there has been no population-wide data looking at the adherence to published TUS reporting guidelines for thyroid nodule malignancy risk assessment. In our health care region in 2018, two radiology groups worked closely with endocrinologists to improve the quality of their TUS reports by adhering to the 2015 ATA or the 2017 TIRADS guidelines. We aim to present the improvement in TUS reports quality with these dedicated changes.Method...

Cushing’s syndrome can be caused by adrenocorticotropic hormone-secreting solid tumors. We report a rare case of an ileal endocrine carcinoma that produced ACTH and induced hypercortisolism. A now 47-year-old male patient presented at the age of 41 with perspiration, weight gain, tremor and general fatigue. Diabetes mellitus and hypercortisolism was diagnosed by laboratory testing. Further examinations revealed ectopic Cushing’s syndrome. The search for the location ...

The hinge region of the hTSHR links the extracellular LRR-domain with the transmembrane domain. Recently, we identified mutations E297A, E303A, and D382A in the hinge region with a cell surface expression comparable to the wt but with a strongly reduced bovine TSH (bTSH) binding. The combined triple mutation E297A/E303A/D382A revealed a cell surface expression comparable to the wt but in comparison to the single mutants a more pronounced reduction of bTSH binding (9% of the wt...