ESPE Abstracts

Background: Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by pancreatic beta-cell dysfunction, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the more common type 1 (T1D) or type 2 diabetes (T2D). Fourteen different MODY genetic subtypes have been identified so far. Making a definite diagnosis is very challenging because of overlapping clinical phenotypes between diabetes subtypes. Neverth...

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Background: Maternal bariatric surgery is associated with increased risk of small-for-gestational-age infants. Risk of nutritional deficiencies in neonates of mothers with prior gastric bypass (GBP) is unclear.Methods: This study compared the clinical and cord blood biological characteristics of 56 newborns of GBP mothers and 56 newborns of healthy mothers, in the Obstetrics Department of Angers University Hospital between 01/03/2008 and 31/10/2012. Afte...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background: Prader–Willi syndrome (PWS) results from abnormalities in the genomic imprinting process leading to hypothalamic dysfunction with an alteration of GH secretion. PWS is associated with early morbid obesity and short stature which can be efficiently improved with GH treatment.Objective and hypotheses: Our aims were to highlight adipose tissue structural and functional impairments in young children with PWS and to study the effect of GH tre...

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...