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: Mitochondrial diabetes (MD) is characterized by a broad spectrum of phenotypic and genotypic involvement. Through a cohort study of 40 patients with DM, we tried to correlate this diversity of phenotypic expression with the biomolecular substratum of the mitochondrial genome in the Tunisian population.Results: Epidemiologically and anthropometrically, our series fits the literature data with age at 31.6 years (5–52), female predominanc...

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...

IntroductionPrimary ovarian failure currently represents an increasingly frequent cause for consultation in endocrinology, from 4 to 18 % of the causes of primary amenorrhea and 10 to 28 % of the causes of secondary amenorrhea.ObjectivesIn this context, we report a retrospective study of 50 patients followed between 2000 and 2020 for early menopause, in order to assess the etiologies and risk factors favourin...