ESPE Abstracts

Objectives: childhood growth influences their social and psychological behavior, and abnormal growth may reflect underlying pathological etiologies. We aim to study etiologies and carachteristics of short stature in children in endocrinology department.Methods: 160 children ranging from 2 years to 21 years with short stature were retrospectively studied.Results: In this study, a di...

Background: β-thalassemia is the most common single gene disorder worldwide, in which hemoglobin β-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods. However, osteoporosis and cardiac dysfunction remain frequent complications.Objective and hypotheses: The aim of the study, was to analyze the diagnostic and prognostic role of ferritin for endocrinopathies and ...

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...

Glucose transporter 2(GLUT2), a transmembrane carrier protein that facilitates glucose movement across cell membranes, is an essential protein in carbohydrate metabolism. Mutation of SCL2A2 gene, which encodes this transporter, leads to a rare well- defined entity called glycogen storage disease type XI (GSD XI) also known as Fanconi Bickel syndrome. The result of this defect is hepatomegaly, proximal tubular dysfunction, fasting hypoglycemia, glucose intolerance, failure to t...

McCune-Albright syndrome is a rare, sporadic disorder defined by the triad of café-au-lait spots, fibrous bone dysplasia, and endocrinopathy. The diagnosis is often made on bone or endocrine involvement, but must be suspected on the particular morphology of café-au-lait spots. We report a case of McCune-Albright syndrome diagnosed on these cutaneous signs and precocious puberty. This is a 4.5-year-old girl referred by a gynecologist for a pediatric endocrinology ...

The syndrome of thyroid hormone resistance (THR), is an inherited condition that occurs in 1 of 40,000 live births characterized by a reduced responsiveness of target tissues to thyroid hormone due to mutations on the thyroid hormone receptor. We report the case of a girl who presented at 18 months of age with growth retardation persistent tachycardia and chronic diarrhea, serology testing for coeliac disease was negative. Serum levels of total and free T4 and T3 were elevated...

Bardet-Biedl syndrome (BBS) is a multiorgan genetic disease which is a part of ciliopathies. The HAS (Haute Autorité de santé) published in March 2019 a new National Diagnostic and Care Protocol for Bardet Biedl syndrome. However, in practice, we face the difficulties of screening and multidisciplinary care of different complications.We report our experience with siblings composed of an eight-year-old boy and an 18-month-old girl suffering from...

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

Introduction: Peripheral or gonadotropin-independent PP is due to the production of sex steroids by gonadal or adrenal tissues independently of gonadotropins (which are usually suppressed). Peripheral PP may result from gonadal, adrenal or hCG-producing tumors (in boys) and exposure to exogenous sex steroids. Peripheral PP may rarely lead to activation of pulsatile GnRH secretion and PPC due to prolonged priming of the HPG axis. The pattern of pubertal develop...