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</...

Introduction: Pituitary abscesses are rare entities that can occur either as primary infections or secondarily to different causes. Primary pituitary abscess arises within a previously healthy gland, while secondary abscess occurs in pituitary gland that harbors a pre-existing lesion (adenoma, craniopharyngioma, or Rathke’s cleft cyst). Only 23 cases of secondarily infected adenomas were reported in the literature.Case report: A 38-years-old man pre...

Introduction: Liver abnormalities are rarely observed in thyrotoxicosis. Diagnosis should be considered only after outruling other possibilities of hepathic pathology, especially autoimmune disaese. We report the case of a 6-year-old girl with Graves’ disease who presented a liver dysfuntion.Case report: A 6-year-old girl with a history of Graves’ disease diagnosed and treated 15 days before, was admitted for jaundice and pruritus. The interrog...

Objective: Considering that the patients with Turner syndrome (TS) have a high prevalence of autoimmune disease, an early investigation for digestive system diseases should be carried out in those with TS.Case 1: A 13-year-old girl, followed for Turner’s syndrome with characteristic facial dysmorphia, developed glaring diarrhea. Colon and endoscopic endoscopic examinations have led to ulcerative colitis. It was put pentasa with a favorable evolution...

Introduction: The association of primary hyperparathyroidism (PHPT) and hyperthyroidism secondary to toxic multinodular goiter (TMNG) is rarely described in the literature. Hereby, we describe the clinical, biological, and radiological characteristics of two patients having this rare association.Observations: First case: A 66 years-old female was diagnosed with primary hyperthyroidism. Her thyroid antibodies were negatives. During the follow-up, she pres...

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...

We aimed to identify causal mutation(s) in 13 patients with thyroid dyshormonogenesis (TD) from three consanguineous Tunisian families. A 12-year clinical follow-up showed phenotypic variability ranging from the presence to the absence of goiter, sensorineural deafness, and mental retardation. Genetic analysis using microsatellite markers within two candidate genes (TPO and PDS) gave evidence of linkage with the TPO gene. Sequencing of its 17 exons and their flanking intron-ex...

Introduction: The magnesium deficiency is frequently associated with diabetes mellitus, it is also incriminated in the occurrence of diabetic complications (micro and macrovascular). Our objective was to study the correlation between magnesium deficiency (Mg) and the presence of chronic diabetic complications.Material and methods: Prospective study that concerned type 2 diabetics (T2D). Our patients were subdivided into 2 groups G1 and G2: G1 including 1...

Introduction: Primary aldosteronism (PA) is associated with increased prevalence of metabolic disorders such as impaired glucose and lipid metabolism and insulin resistance. Individuals with PA have an increased risk of cardiovascular events. The aim of this study is to determine the characteristics of metabolic syndrome (MS) in patients with PA.Patients and methods: Retrospective study concerning 40 patients with PA over the period of 10 years from Janu...

Introduction: Allgrove syndrome or Triple A (3A) syndrome is a rare autosomal recessive disease characterized by alacrima, esophageal achalasia and adrenocorticotropic hormone-resistant adrenal insufficiency.Observation: A 3-year-old and 9 months patient, from a consanguineous marriage, consulted for melanoderma, with family history: sisters with an heterozygous mutation of the AAAS gene, two paternal cousins, 5 years and 22 years, followed for autism an...