ESPE Abstracts

Background: Obesity is tightly associated with adipose tissue inflammation. Tumor necrosis factor-alpha (TNFα) has been identified as a key player in this inflammatory process and has been linked to the development of obesity-associated insulin resistance. Our group studies the involvement of TNF superfamily members in obesity-induced alterations in adipose tissue.Objective and hypotheses: Here, we aimed to identify the effects of the TNF superfamil...

Background: Ovarian tumors are rare in the pediatric age and are represented primarily by functional cysts and benign tumors, the most common is the mature teratoma.Objective and hypotheses: Assess clinical, radiological, etiological and scalable characteristics of ovarian tumors in the pediatric age.Method: Retrospective study of seven cases of ovarian tumors collected over a period of 20 years. All children received complete clin...

Background: Central precocious puberty (CPP) in girls is characterized by an activation of the hypothalamic–pituitary–ovarian (HPO) axis before 8 years of age. Given the gradual awakening of the GnRH pulse generator, a spectrum of presentations has been found among girls with premature sexual development. CPP are not easily distinguished from idiopathic precocious thelarche (PT) or other intermediate positions along this spectrum. The GnRH test is the gold standard t...

Background: Adrenal insufficiency in children is rare and potentially serious because of the risk of acute adrenal insufficiency. This complication is lethal in the absence of prompt and appropriate treatment. Aetiologies are dominated by the genetic causes.Objective and hypotheses: Report diagnostic circumstances,phenotypic forms and causes of adrenal insufficiency in children and adolescents.Method: This is a retrospective study ...

Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pr...

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...

Background: Turner syndrome (TS) is a common genetic disorder with an incidence of 1 in 2500 live births due to chromosomal errors resulting in monosomy for the X chromosome with or without mosaicism. Familial TS has been rarely reported. We report two families having TS.Methods: We report 6 patients with TS who had been referred to the Endocrinology department and Pediatric department at Hedi Chaker hospital, Sfax, Tuni...

Introduction: Perrault syndrome (PS) is a rare disease characterized by a premature ovarian failure (with primary or secondary amenorrhea) and a sensorineural deafness. In this context we report the case of two sisters issuing from consanguineous parents presenting the association of these two anomalies.Cases: The reason for consultation was primary amenorrhea in both cases at age 16 and 21 years respectively, on examina...

Introduction: Allgrove syndrome is a genetic disorder of autosomal recessive inheritance associating in its complete form: Esophageal achalasia; alacrymia and adrenal insufficiency. This is generally an adreno-corticotropic hormone (ACTH) resistant. In this context we report the case of a patient followed in the endocrinology department.Case: This is the case of a boy who comes from a consanguineous marriage, with family...

Introduction: Congenital growth hormone deficiency (GHD) is a non-exceptional cause of short stature. The objective of our study is to re-evaluate the clinical, biochemical, and evolutive features of congenital GHD in Tunisian south in adulthood.Subjects/Methods: We underwent a retrospective study of 48 patients over 16 years old affected by GHD over 28 years (1990- 2018).Resultats...