Searchable abstracts of presentations at key conferences in endocrinology

ea0026s16.2 | TSH Receptor and thyroid disorders | ECE2011

Activating and inactivating TSH receptor mutations

Paschke Ralf

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...

ea0073mtebs2 | Meet The Expert Basic Scientist 2: When and how to employ molecular genetic testing in thyroid pathology? | ECE2021

Meet The Expert Basic Scientist 2: When and how to employ molecular genetic testing in thyroid pathology?

Paschke Ralf

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 ...

ea0016p715 | Thyroid | ECE2008

Genetic predisposition for goiters analysed by a case control study

Wicht Juliane , Singer Joerg , Paschke Ralf

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...

ea0016oc2.6 | Thyroid | ECE2008

Ga-68-Dotatoc PET detects somatostatin receptors in normal thyroids and various thyroid pathologies

Singer Joerg , Lincke Thomas , Sabri Osama , Paschke Ralf

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...

ea0016p700 | Thyroid | ECE2008

Cigarette smoking but not the TSHR germline polymorphism D727E is associated with toxic multinodular goitre (TMNG) and the thyroid volume

Jorn Jakob , Miehle Konstanze , Schmidt Claudia , Wicht Juliane , Paschke Ralf

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...

ea0016p707 | Thyroid | ECE2008

Lack of apparent association of TSH receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism

Lueblinghoff Julia , Mueller Sandra , Sontheimer J , Paschke Ralf

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...

ea0022p429 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Ectopic Cushing’s syndrome caused by a well differentiated ACTH-secreting neuroendocrine carcinoma of the ileum

Singer Joerg , Koch Christian A , Bartels Michael , Aigner Thomas , Lincke Thomas , Fasshauer Mathias , Paschke Ralf

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 ...

ea0016p653 | Signal transduction | ECE2008

The hinge region of the human TSH-receptor (hTSHR) mediates the activity of a superagonistic human TSH analog and bovine TSH

Mueller Sandra , Kleinau Gunnar , Skudlinski Mariusz , Jaeschke Holger , Krause Gerd , Paschke Ralf

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...

ea0084op-12-60 | Oral Session 12: Nodules and Diagnostic | ETA2022

Population study on thyroid nodule ultrasound (TUS) reports quality with adherence to guidelines

Yang Hu Xun , Wu Jiahui , Seal Paula , Ghaznavi Sana , Symonds Christopher , Kinnear Susan , Paschke Ralf

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...

ea0014p346 | (1) | ECE2007

Genotype/phenotype relation for toxic thyroid nodules with or without TSH receptor mutations

Gozu Hulya , Mueller Sandra , Bircan Rifat , Krohn Knut , Sargin Mehmet , Sargin Haluk , Gezen Cem , Erginer Turgay , Karadayi Nimet , Paschke Ralf

Constitutive activation of the cAMP pathway by activating TSHR mutation stimulates both thyrocyte proliferation and function. Thus they lead to formation of toxic thyroid nodules (TTNs) and ultimately hyperthyroidism. The in vitro activity of the various TSH-receptor mutation varies from 2–7 fold cAMP increase over the wild type TSH receptor. One previous study invrestigated a possible genotype to phenotype relation in TTNs with somatic TSHR mutation with a negativ...