ESPE Abstracts

Introduction: urner's syndrome (TS) is a rare genetic disorder related to the total or partial absence of an X chromosome, affecting 1/2 500 newborns of female sex. It associates almost steadily a delay in stature and ovarian failure with infertility.The other anomalies are inconstant: morphological features of variable intensity, associated malformations and an increased risk of subsequent acquired diseases.The diagnosis of certainty is established after ...

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but about 1000 cases have been reported to date. It is characterized by a triad associating a very fine or interrupted pituitary stalk, an ectopic posthypophysis (PH) or absent and a hypoplasia of the anterior pituitary, visible on the MRI. The etiology of PSIS remains unknown.<p cla...

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancre...

Background: Stunting is a common reason for consultation in pediatrics, several etiologies are responsible, although endocrine causes is rare, it is important to make the diagnosis in order to provide early adequate treatment. however the treatment by rGH is usually well tolerated, side effects should be known, including the possibility of retinal edema revealing intracranial hypertension.Objective and hypotheses: Our purpose is to report a side effect o...

Background: Hearing problems and ear malfunctions are frequent in Turner syndrome (TS) and correlate with the karyotype. As a result of the frequent otitis media, conductive hearing loss is common in girls with TS. Sensorineural hearing loss is also common and may occur as early as 6 years of age.Objective and hypotheses: This study reviewed a cohort of children to clarify the incidence and pattern of conductive and sensorineural hearing loss in girls wi...

Background: True diabetes insipidus (DI) is a rare disease in children, defined as the excretion of hypotonic urine and polydypsia, secondary to an absolute or relative deficiency of antidiuretic hormone arginine vasopressin (central DI) or a resistance to the action of this hormone (nephrogenic DI). To differentiate from primary polydypsia.Objective and hypotheses: We report the case of AM a 13 years old girl, with personal history of cholecystectomy at...

Introduction: Graves’s disease is frequent in women, its prevalence being 0.5–2% and its incidence 0.1–1% during pregnancy. Both TSH anti-receptor antibodies and the synthetic antithyroid drugs cross the placenta, increasing the risk of hypo- and/or hyperhtyroidism. Our objective is to describe the thyroid status of fetus and newborns from women with Graves’s disease referred to our Department.Materials and methods: We included childr...

Background: The deciphering of the physiological importance of the GH secretagogue receptor (Ghsr), a G protein-coupled receptor (GPCR) depicted as the sole receptor of the pleiotropic hormone ghrelin, was initially compromised by the modest phenotype observed in Ghsr−/− animals. This lack of a robust response to total loss of Ghsr may result from developmental compensatory signals. Still, the description of rare mutations in the GHSR p...

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

Introduction: Radiation induced growth hormone deficiency (GHD) is one of several important factors in the aetiology of short stature complicating the treatment of brain tumours in childhood. If such a child is clinically well,shows a poor growth rate and biochemical evidence of GH deficiency,then a 1 year trial of GH is justified.The aim of this study is to evaluate growth and assessed Pituitary function (GH deficiency) in children who ...