ESPE Abstracts

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...

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...

Background: Obesity has a permanent effect on children’s health and acts as a major risk factor for chronic diseases. Therefore considering the children’s BMI is a vital parameter at each visit. This study was performed to measure prevalence of obesity and its determinants in school children of Zahedan in Iran; Zahedan is the capital of Sistan-and-Balouchestan province which is known to have the highest prevalence of underweight in Iranian children.<p class="abst...

It is important that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service is critical. The members of this service should be involved in education and training as well as ...

Background: Variability still exist about the growth response to growth hormone (GH) therapy in children with idiopathic short stature We describe the growth response to GH therapy ( 0.05 mg/kg/day) for > 2 years in 20 prepubertal children with idiopathic short stature (ISS) who had slow growth velocity ( < -1 SD), normal GH response to provocation and who were significantly shorter than their mid-parents height SDS MPHtSDS (-1 difference).<p class...

Adeno-associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitatio...

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...