ESPE Abstracts

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...

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns, in Algeria newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. We report the case of a girl of 12 years old reffered for a failure to thrive, speech deficit and persistant vomiting, On clinical examination her height was –3 SDs with a very delayed bone age and a BMI of 35kg/m2 associated with severe musculoskeletal deformities and cog...

Introduction: Type 2 diabetes (T2D) is defined as insulin resistance associated with a progressive insulin-secretory defect, its incidence in the pediatric population has increased in parallel with the global increase in obesity.Objectives: The objectives of our study are to determine the frequency of T2DM in our consultation and to identify the diagnostic circumstances as well as the therapeutic modalities.<p class=...

Introduction: Precocious puberty, is the development of sexual characteristics occurring before the age of 8 in girls and 9 years in boys, it is a reason for consultation which is becoming frequent, the etiologies are numerous, it Central forms mainly act by early activation of hypothalamic-pituitary-gonadal (HPG) axis which can be idiopathic or secondary to congenital or acquired lesions, rarely the peripheral origin can be the cause.<s...

Introduction: Children with type 1 diabetes are at significant risk of developing autoimmune diseases. The international consensus of ISPAD 2022 updated the modalities and pace of screening for the latter. Our goal is to determine the frequency of autoimmune disorders at the time of diagnosis of type 1 diabetes in our department.Materials and Methods: This is a screening for autoimmune thyroiditis and celiac disease in a...

Introduction: Inaugural diabetic ketoacidosis (DKA) remains a common manifestation of type 1 diabetes (T1D) in children; it is a life-threatening condition due to the risk of cerebral edema and hydroelectrolytic complications.Material and Methods: This is a prospective study over a period of 2 years in the wilaya of Annaba (eastern Algeria) we studied the clinical, biological, therapeutic and progressive characteristics ...

Background: Turner syndrome (TS) is a condition that affects only females and occurs in 1 every 2500---3000 live births, it is a genetic disorder caused by total or partial loss of the second sex chromosome, clinical phenotype is highly variable. We aim ed to describe the clinical characteristics of TS patients.Methods: We studied females diagnosed with TS at University hospital of Annaba, between 2015 and 2024. Retrospe...