Searchable abstracts of presentations at key conferences in endocrinology

ea0056oc1.1 | Benign thyroid diseases | ECE2018

Familial gestational hyperthyroidism caused by Val597ile mutant of TSH receptor gene with human chorionic gonadotropin hypersensitivity

Caron Philippe , Susini Marion , Savagner Frederique

Context: Familial gestational hyperthyroidism caused by mutations of TSH receptor gene, hypersensitive to hCG, is rare. Only two mutations at the same amino acid (lys183Arg, Lys183Asn) in the leucine-rich region of the extracellular N-terminal domain of the TSH receptor have been reported.Patients: A 38-year-old woman was seen during the first trimester of her second pregnancy for weight loss (5 kgs), nausea and vomiting. Thyroid function test revealed t...

ea0063oc9.4 | Thyroid 2 | ECE2019

Resistance to thyroid hormone alpha associated with early-onset severe NASH

Pautasso Valentina , Forrest Clementine Dumant , Guerrot Anne-Marie , Fraissinet Francois , Savagner Frederique , Castanet Mireille

Introduction: Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with barely normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia, growth retardation, constipation, dyspraxia and intellectual deficit. Hormonal assessment often shows decreased/low-normal free thyroxine (fT4) and increased/high-normal free triiodothyronine (fT3) concentrations, resulting in a low fT4/fT3 ratio, w...

ea0011p888 | Thyroid | ECE2006

Transcriptomic analysis of the oncocytic signal in vesicular thyroid tumours

Fontaine JF , Savagner F , Melo M , Ballester B , Houlgatte R , Malthièry Y

Vesicular thyroid tumours evolve from benign to malignant states, respectively called adenomas and carcinomas by respect to the World Health Organisation classification. Borderline cases, atypical adenomas, cannot be clearly classified. When an abnormal cytoplasmic mitochondrial proliferation occurs into the tumour cells, these tumours called oncocytomas, are more aggressive. Oncogenic mechanisms and signal pathways of these tumours are not well known and the origin of the onc...

ea0011p926 | Thyroid | ECE2006

The Gods placed the diagnosis before the therapy: case reports of the Slovak families with resistance to thyroid hormones

Vanuga P , Mendelova E , Fodor G , Vitesnik K , Savagner F , Malthiery Y , Pura M

Resistance to thyroid hormones (RTH), is with the exceptions caused by mutations in the gene coding β1-subunit of the thyroid receptor (TRβ1) located on chromosome 3. More than 700 individuals with RTH belonging to about 250 families have been identified up to date. The presence of goiter, tachycardia and hyperactivity together with abnormal findings on routine thyroid testing usually lead to further investigation and, ultimately, the diagnosis ...