ESPE Abstracts

Background: Hyperthyroidism is considered to be rare in children; its clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of children diagnosed with hyperthyroidism in an endocrinology unit in a children hospital in Tunisia.Results: Seven cases o...

Background: Hyperthyroidism is uncommon in children. Graves’ disease is the most common cause in pediatric population. The diagnosis is based on the presence of anti-TSH receptor antibodies. Pediatric Graves’ disease has some peculiarities mainly in term of treatment and evolution, since its prognostic is different than adults.Aim: The aim of this study is to describe the epidemiological, clinical and biological features of pediatric Graves...

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Introduction: Graves’ disease is a common etiology of hyperthyroidism. The association of Graves’ disease and idiopathic combined pituitary hormone deficiency (ICPHD) is rare. We report the case of a patient followed for ICPHD who developed Graves’ disease during follow-up.Observation: A 13-year-old patient consults for stature delay. She had a family history of idiopathic hypogonadotropic hypogonadism in a 25-year-old bro...

Introduction: Differences in sex development (DSD) comprise a heterogeneous group of congenital conditions that affect human sex determination and differentiation. We aimed to describe the clinical diagnoses of children with DSD who were referred to a pediatric tertiary center, and to examine trends in clinical features and management over three decades.Methods: This is a retrospective, cross-sectional study of children ...

Background: Cervico-facial hydatid cyst is rare. It has a high incidence rate in regions with a mild climate such as Mediterranean countries, Middle East, South America, New Zealand, Australia and Southeast Asia. Hydatid cyst develops most often in the liver and lungs in human beings. The incidence of hydatid cysts in the thyroid gland is rare and it accounts for 1% of echinococcosis locations. Primary hydatid cyst of thyroid gland is an exceptional localizati...

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Introduction: Maternal thyroid disease is considered as a risk factor for abnormal thyroid function at birth as well as for long-term morbidity in offspring. The potential harmful effects on the neonate had led to the clinical practice of thyroid function assessment in infants born to mothers with thyroid disease during pregnancy, despite well-established newborn screening programs with include congenital hypothyroidism screening. We evaluated the usefulness o...

Objectives: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by developmental delay with severe impairments in speech, motor and coordination dysfunction and unique behaviors, accompanied with distinct facial features and high prevalence of epilepsy and sleep problems. Despite few reports regarding short stature among AS patients, this feature has not been extensively studied and is not included in the clinical criteria defi...

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...