Endocrine Abstracts

Leptin (LEP) gene is one of the most promising candidate genes for obesity. The aim of this study was to investigate the impact of LEP polymorphisms on obesity, anthropometric and biochemical parameters in a sample of three Tunisian consanguineous families with obesity. Seven single nucleotide polymorphisms (SNPs) in 5′ region of LEP gene were genotyped in three consanguineous families including 33 individuals. The previously reported LEP</...

17β-Hydroxysteroid dehydrogenase type 3 (encoded by HSD17B3) catalyses the conversion of Δ4-androstene-3.17-dione to testosterone and has a key role in male sexual development. Mutations in the HSD17B3 gene can result in reduced enzyme activity and decreased testosterone synthesis, leading to a rare autosomal recessive aetiology of 46, XY Disorders of Sex Development (46, XY DSD) named 17β-HSD3 deficiency. Here, we characterised three Tunisian ...

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...

Introduction: Primary amyloidosis is a multi-systemic disease difficult to identify given the diversity of the disorders that it can cause especially at an early stage of the disease. This makes its diagnosis difficult in case of association with a pathology that can be intricate with its clinical expression. In this context we report the first case in the literature associating mitochondrial diabetes (DM) with a primary amyloidosisCase: A 32 years old g...

IntroductionMitochondrial diabetes (DM) is characterized by a broad spectrum of phenotypic and genotypic involvement. Among 86 patients with DM, we chose to study the peculiarities of syndromic DM diagnosed in three families in order to be able to establish a correlation between this diversity of phenotypic expression and the biomolecular substratum of the mitochondrial genome.ResultsThese are four patients (...