ESPE Abstracts

Introduction: NDM is a monogenic form of diabetes that occurs in the first 6 months of life. NDM is a rare condition accounting for up to 1 in 400,000 infants in the United States. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3. Of these, imprinting defects on chromosome 6q24 and the KCNJ11 mutation have been recognized as the maj...

Introduction: Reduced consciousness during diabetic ketoacidosis (DKA) is an acute medical emergency which necessitates rapid escalation of care. Rarely it can point towards unusual co-morbidities too. We report a case of new- onset type 1 diabetes (T1D) presenting with severe DKA in a teenager, complicated by an evolving neuropathy.Case report: A previously healthy 17-year-old girl presented in severe DKA following a 4-...

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...

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: 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...

Context: Congenital adrenal hyperplasia (CAH) is a rare genetic defect. Its prevalence is estimated at one case per 3,000 births in Algeria and one case per 15,000 births worldwide. The most common form is due to 21-hydroxylase deficiency associated with mutations in the 21-hydroxylase gene, which is located at chromosome 6p21. Molecular defects of CYP21A2 systematically decrease the activity of this enzyme and result in expression of varying severity and phen...

Context: The outcome of a treatment depends largely on the observance and compliance of the patient. Studies analyzing therapeutic compliance in chronic endocrine diseases are rare and especially controversial in childhood. Studies have reported poor adherence in 6-50% of cases.Patients and Methods: We studied treatment compliance in 100 children treated with subcutaneous growth hormone for growth hormone deficiency, int...