Endocrine Abstracts

Autoimmune thyroid disease (AITD), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT), is caused by multiple genetic and environmental factors. The clinical and immunological features of GD and HT are distinct; however, there are multiplex families with both GD and HT. In order to study the genetic susceptibility factors to AITDs, we have followed up 115 control members belonging to a large Tunisian family with a high prevalence of AITDs (Akr family) dur...

The metabolic syndrome (MetS) is a constellation of physiological and biochemical abnormalities characterized by obesity, hyperglycaemia, elevated triglycerides and decreases in high density lipoprotein cholesterol (HDL-C), and hypertension. The MetS promotes atherosclerosis, and increases the risk of developing diabetes and cardiovascular disease (CVD), as well as rates of mortality. Thus, it has become one of the major public health challenges worldwide. In Tunisia, few stud...

The autoimmune thyroid disease (AITDs) comprises two clinical phenotype, Graves’ disease (GD) and autoimmune hypothyroidism (AIH), which include goitrous [Hashimoto thyroiditis (HT)] and non goitrous forms [Primary idiopathic myxoedema (PIM)]. These disorders are characterized by loss of immunological self tolerance including the presence of a thyroid lymphocytic infiltrate and autoantibodies to thyroglobulin (Tg) and thyroid peroxidase (TPO). Inheritance of AITDs is comp...

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 ...