ESPE Abstracts

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

Background: Growth retardation affects more than 80% of patients with Noonan syndrome (NS; MIM#163950), one of the most common developmental disorders, but its origin remains poorly understood. We have demonstrated that mutations of the tyrosine phosphatase SHP2, that are responsible for half the cases of NS, impair the systemic production of Insulin-like growth factor 1 (IGF1), the biological mediator of GH acting on growth plate, through a hyperactivation of the Ras/Mitogen-...

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...

Introduction: The French Reference Centre PRADORT set up a national Access® database in 2005 for children diagnosed with Prader-Willi Syndrome (PWS). The medical, socio-demographic and family data of 813 patients were then collected.Method: We aim to analyse the evolution of diagnosis and care over time, according to the birth year of patients by comparing 3 groups (patients born between 2005 to 2009, 2010 to 2014 an...

Purpose: Prader-Willi syndrome is a rare genetic neurodevelopmental condition characterized by cognitive disabilities, behavioural problems, hypothalamic dysfunction with obesity and sleep disorders. A few studies have reported autonomic nervous system dysfunction. Our aim was to investigate in details dysautonomia combining sleep studies and standard autonomic testing in children with Prader-Willi syndrome regularly followed.Met...

Introduction: Children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens. Supraphysiological GC doses are typically required, predisposing patients to GC-related comorbidities. In Phase 2 studies, participants with CAH who received crinecerfont, a novel oral CRF1 antagonist, experienced reduction of the adrenal a...

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

Background: The increasing incidence of obesity is a serious global public health challenge. Endocrine disrupting chemicals (EDCs) are exogenous chemicals that interfere with the endocrine system, including adipose tissue. Increasing evidence from epidemiological, animal, and in vitro studies shows that EDCs, in particular bisphenol A (BPA) and phthalates (e.g. di-ethyl-hexyl-phthalate, DEHP), can affect body weight, adipogenesis and circulating lipid profile,...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Several factors including genetic predisposition, psychosocial and socio-economic conditions, diet and ethnicity may have contributed to this phenomenon. Epidemiological and animal studies have shown that the exposure to BPA and DEHP may be associated with early onset of puberty in girls.Objective: To investigate...