Searchable abstracts of presentations at key conferences in endocrinology

ea0056p1084 | Thyroid (non-cancer) | ECE2018

Clinical and genetic study of autoimmun thyroid disease in a Tunisian multigenerational family

Elleuch Noura , Ghorbel Dorra , Hadjkacem Faten , Elleuch Mouna , Chiboub Marwa , Sessi Salwa , Mnif Mouna , Abid Mohamed

Autoimmune thyroid diseases (AITD), which include Hashimoto thyroiditis (HT), GravesÂ’ disease (GD) and primary idiopathicmyxoedema (PIM), are recognized by their clinical and genetic heterogeneity. In this study, we have carried on a global approach gathering 20 year genetic and clinical data on a Tunisian multigenerational family (Akr). Our purpose was search for a combined genotype involved in AITD susceptibility using 33 gene polymorphisms. The Akr pedigree is composed...

ea0056p1086 | Thyroid (non-cancer) | ECE2018

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidenceof a founder effect

Ghorbel Dorra , Hadjkacem Faten , Mnif Fatma , Loukil Fatma , Mnif Mouna , Elleuch Noura , Abid Mohamed

We aimed to identify causal mutation(s) in 13 patients with thyroid dyshormonogenesis (TD) from three consanguineous Tunisian families. A 12-year clinical follow-up showed phenotypic variability ranging from the presence to the absence of goiter, sensorineural deafness, and mental retardation. Genetic analysis using microsatellite markers within two candidate genes (TPO and PDS) gave evidence of linkage with the TPO gene. Sequencing of its 17 exons and their flanking intron-ex...

ea0073aep707 | Thyroid | ECE2021

Genetic investigation of thyroid dyshormonogenesis in a Tunisian consanguineous family

Safi Wajdi , Hadj Kacem Faten , Charfi Hana , Mnif Feki Mouna , Abid Mohamed , Bougacha-Elleuch Noura

We aimed to identify causal mutation(s) in 2 patients (P1 and P2) with thyroid dyshormonogenesis (TD) from a consanguineous Tunisian family. Patient P1 developed TD at age 10; while P2 developed it at a late age (30 years) with no goiter. Scintigraphy showed homogeneous uptake of 131I in P1 patient. Genetic analysis was performed using candidate gene approach. Thus, sequencing of the 17 exons of the TPO gene revealed only presence of rs4927611 polymorphism ...