Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep696 | Pituitary and Neuroendocrinology | ECE2022

AQP2 gene mutation C.450T>A in a Tunisian family

Mnif Fatma , Charfi Hana , Abdelhedi Fatma , Bouassida Malek , Akid Faten Haj Kacem , Salah Dhoha Ben , Mnif Mouna , Charfi Nadia , MAJDOUB NABILA REKIK , Elleuch Mouna , Kammoun Hassen , Abid Mohamed

Introduction: The nephrogenic diabetes insipidus (DI) is an entity to be known. It is essential to know its etiologies and especially its therapeutic modalities which are different from those of the central DI. The familial nature of the disease should suggest a genetic origin. In our paper, we are presenting the case of a Tunisian family with genetic nephrogenic DI.Case reports: Our family had a history of neglected polyuro-polydipsic syndrome (PPS), de...

ea0081ep748 | Pituitary and Neuroendocrinology | ECE2022

Clinical, paraclinical and genetic features of diabetes insipidus

Mnif Fatma , Charfi Hana , Abdelhedi Fatma , Bouassida Malek , Elleuch Mouna , Salah Dhoha Ben , Mnif Mouna , Majdoub Nabila Rekik , Charfi Nadia , Akid Faten Haj Kacem , Kammoun Hassen , Abid Mohamed

Introduction: Diabetes insipidus (DI) is a rare pathology. The advent of hypothalamic-pituitary MRI has made it possible to make a positive diagnosis by avoiding the water restriction test (WRT). The etiological diagnosis is still a challenge in view of the diversity of diseases involved, which influences the therapeutic management and prognosis.Work Objectives: The objectives of our work were to describe the clinical, paraclinical and genetic features o...