Endocrine Abstracts

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 ...

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary defect with an estimated incidence of 0.5 per 100,00 births. This syndrome has heterogeneous clinical presentations with varying degrees of pituitary hormones deficiencies. PSIS is commonly diagnosed during neonatal period and infancy. However, when symptoms are not evident or overlooked, the diagnosis could be delayed exposing the patient to acute, such as acute adrenal insufficiency, an...

Thyroid differentiated carcinomas are of good prognosis except in case of metastatic dissemination. These distant metastasis, especially the bone one, are a major cause of altered quality of life and death. This study concerns a cohort of 21 patients treated from 1995 to 2011.The aim of our work is to study the characteristics of patients who had bone metastases in association with thyroid cancer to determine their prognostic factors. 18 of our patients were ...

IntroductionDifferentiated thyroid cancer (DTC) is the most common thyroid cancer with a relatively high survival rate. Distant metastasis (DM) is not a frequent event in DTC but has an adverse impact on mortality of patients.PurposeThe aim of this study was to determine the most frequent metastases and their prognosis after adequate treatment.MethodsA retrospecti...

IntroductionDifferentiated thyroid cancer (DTC) is a rare disease (1%), and usually has good prognosis if well treated. However, the percentage of mortality due to this cancer is about 0.5%. Moreover, 5 to 27%of patients treated for DTC suffer from regional recurrence. Therefore, many research tried to identify predective factors for the survival, relapse and progression of this cancer.PurposeThe aim of our s...

Introduction: Obesity is a global epidemic with a growing prevalence in recent decades. In Tunisia, obesity is a major problem as it is increasing in adults as well as in children and adolescents. It therefore appears important to deepen the knowledge on this pathology and especially on the psychological profile, since studies concerning the mental health of obese subjects remain rare.Purpose: Study the psychological impact of obesity in adult women<...

Introduction: Diabetes mellitus is a major public health problem affecting all ages worldwide. In Tunisia, 18% of the population has diabetes mellitus. In fact, it is one of the first ten causes of death in our country.Therefore, self-management education for diabetic patients play an important role in reducing diabetes complications and mortality rate. The education is conducted not only by doctors, but also by nurses.Purpose: The aim of this study is t...

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: Tuberculosis is an infectious disease that involves any organ. However, the primary pituitary tuberculosis is an extremely rare disease. Intracranial tuberculomas account for 0,15-5% of intracranial space-occupying lesions, of which pituitary as the primary site, and easily misdiagnosed as pituitary adenoma. In this setting, the late diagnosis can result in permanent endocrine dysfunction. We hereby report the case of a patient with pituita...

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...