Searchable abstracts of presentations at key conferences in endocrinology

ea0056p144 | Female Reproduction | ECE2018

Female fertility in congenital adrenal hyperplasia

Gargouri Imen , Mnif Fatma , Ajili Rihab , Hadjkacem Faten , Sessi Salwa , Kammoun Mahdi , Mnif Mouna , Abid Mohamed

Introduction: Congenital adrenal hyperplasia (CAH) is a genetic disease with autosomal recessive inheritance. The deficit in 21-hydroxylase (21-OH) is by far the most common enzyme deficiency CAH, since it represents 95% of the cases. Fertility in wome is found to be reduced due to hormonal, mechanical and psychological factors.Patients and methods: It is about a descriptive and prospective study conducted in 15 patients collected in the endocrinology de...

ea0056p589 | Obesity | ECE2018

Association between Leptin gene polymorphisms and plasma leptin level in three consanguineous families with obesity

Fourati Mouna , Hadjkacem Faten , Ghorbel Dorra , Mrabet Houcem Elomma , Sessi Salwa , Fakhfakh Faiza , Abid Mohamed

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</...

ea0056p1084 | Thyroid (non-cancer) | ECE2018

Clinical and genetic study of autoimmun thyroid disease in a Tunisian multigenerational family

Elleuch Noura , Ghorbel Dorra , Hadjkacem Faten , Elleuch Mouna , Chiboub Marwa , Sessi Salwa , Mnif Mouna , Abid Mohamed

Autoimmune thyroid diseases (AITD), which include Hashimoto thyroiditis (HT), Graves’ disease (GD) and primary idiopathicmyxoedema (PIM), are recognized by their clinical and genetic heterogeneity. In this study, we have carried on a global approach gathering 20 year genetic and clinical data on a Tunisian multigenerational family (Akr). Our purpose was search for a combined genotype involved in AITD susceptibility using 33 gene polymorphisms. The Akr pedigree is composed...