Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep645 | Thyroid | ECE2021

Phenotypical changes of thyroid disease in a patient with Turner Syndrome

Halloul Imen , Ben Abdelkerim Asma , Ben Othman Wafa , Saad Ghada , Kacem Maha , Maaroufi Amel , Chaieb Molka , Hasni Yosra , Ach Koussay

IntroductionTurner syndrome (TS) is among the most common chromosomal abnormalities in females, resulting from structural or numeric abnormalities in the X chromosome. Autoimmune disorders, especially thyroid diseases have a high prevalence among these patients. Usually Hashimoto’s thyroiditis (HT) is the most frequent one, whilst the association between this syndrome and Graves’ disease (GD) has been less often reported. Here we report a case ...

ea0073ep141 | General Endocrinology | ECE2021

Wermer syndrome: different phenotypes for the same disorder

Halloul Imen , Ben Abdelkerim Asma , Khaldi Safa , Saad Ghada , Kacem Maha , Chaieb Molka , Maaroufi Amel , Hasni Yosra , Ach Koussay

IntroductionWerner syndrome (WS) is a rare genetic disorder that displays clinical features suggestive of accelerated aging. Also known as adult progeria, it is caused by mutations in the WRN gene, which encodes a RecQ DNA helicase. Primary characteristics of this syndrome are progeroid changes of hair, bilateral cataract, atrophic skin, soft-tissue calcification, bird-like face, abnormal voice and many others features. Here we report 5 patients...