Endocrine Abstracts

Sexual differentiation is a sequential process where several genes are involved, therefore a defect at any stage can lead to a divergence between genetic, gonadal and phenotypic sex. The objective of our work is to analyze the clinical and hormonal characteristics of 13 XY patients, explored between 1989 and 2007 and belonging to 10 different families. The average age of our patients was 18.9 years (2–33 years). The reason for consultation was sexual ambiguity in two case...

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...

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...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome characterized mainly by the association of: Primary hyperparathyroidism (PHP), gastro-entero-pancreatic tumors (GEP) and pituitary tumors. The aim of our work is to specify the particularities of PHP in MEN1 among Tunisian population.Patients & Methods: It is a retrospective descriptive study of 7 cases of MEN1, including 3 familial cases, during a 28-year period.<p...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary syndrome that should be considered when different endocrine tumors are associated in an individual or familial context. We report the observation of a Tunisian family, two sisters and a brother.Observations: Patient1: a 31 years old female, followed for multinodular goiter, was hospitalized for a left maxillary tumefaction associated with headache and blurred vision. Investigat...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a genetic disease that predisposes to the development of both hyperplastic and tumorous lesions of the endocrine glands, in particular parathyroid, pancreatic and pituitary. Thus we report our case.Observation: An 18-year-old male patient was hospitalized for severe hypoglycemia mistakenly treated as epileptic seizures. The etiological investigation concluded to a benign multiple insulinoma, con...