Endocrine Abstracts

Obesity is on the increase worldwide and mainly in women of reproductive age. In turn, it is associated with various reproductive complications. To assess the detrimental effect of obesity on reproductive health and the means of its management, this retrospective cohort study of 40 obese and infertile women has been conducted in the department of endocrinology and diabetology of Hedi Chaker hospital in Sfax-Tunisia from 2009 to 2014. These patients have a mean age of 34 years ...

Introduction: Masked hypertension (MH) is a relatively recent description leading to a similar cardiovascular risk as permanent hypertension. Masked hypertension is more common among diabetic patients.Methods: This was a case-control study. We performed 24-hour ambulatory BP in 53 type 2 diabetic patients normotensive in clinical measurement. We compared both Masked Hypertension and Normotensive groups according to clinical/laboratory parameters and targ...

Introduction: Extra-adrenal paragangliomas are neoplasms arising from cells of neural crest origin anywhere along the distribution of the sympathoadrenal neuroendocrine system. Nearly 85% are intra-abdominal, 12% are intrathoracic, and 3% are cervical. 1 Some of the unusual sites for paragangliomas include the kidney, urethra, urinary bladder, prostate.Case report: A 27-year old man presented with sever hypertensive crisis. He had a medical history of hi...

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: 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: Dysthyroidism is not uncommon during chromosomal aberrations. The objective of this work is to study the characteristics of this association at the epidemiological and clinical levels.Methods: This is a retrospective study of 27 cases of patients with trisomy 21 chromosomal abnormalities (6 cases), klinefelter syndrome (4 cases) and Turner syndrome (17 cases) genetically confirmed, collected at endocrinology service at Sfax University Hospi...