ESPE Abstracts

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHADNET) is a rare disorder which presents in early childhood.Case presentation: Four years old girl was referred to endocrinology unit with a history of excessive weight gain. Parents noticed a rapid weight gain from 3 years of age with increase food seeking behaviour and daytime somnolence. Her weight was >95th centile and her height was o...

Introduction: Focal disease of the pancreas causing hyperinsulinism (FHI) has 2 essential characteristics 1) the inheritance of a paternally derived mutation in ABCC8 or KCNJ11 in conjunction with loss of a region of the maternal chromosome 11p13.1 and 2) the ability to be cured by resection of the focal lesion while sparing the majority of the pancreas. At the time of surgery the surgeon resects the focal lesion until clear margins are avail...

Objective: Neonatal hyperthyroidism is a severe but generally transient condition with a 2% prevalence in offspring of mothers affected by Graves' disease. It is caused by the transplacental passage of maternal anti-thyrotropin receptor stimulant antibodies (TRABs). Here we report the cases diagnosed at our centre between 2015-2019 in order to re-evaluate the diagnostic and therapeutic approach to this challenging neonatal thyroid alteration.<p cla...

The association of thyroid carcinoma with Graves' disease is considered rare and remains exceptional because it accounts for only 1-2% of childhood cancers.We report an observation of a 10-year-old girl from a goitrous endemic area (CHLEF) with exophthalmia. It shows signs of obvious thyrotoxicosis with with a very firm, homogeneous and asymmetrical goiter on the right.. A hormonal assessment, an echography and a thyroid scintigraphy confirm the ...

Background: Common metabolic diseases, including diabetes and obesity, are the result of interactions between genes and environment. It is well-recognized that the maternal intrauterine environment is an important modifier of this risk. Thus, fetuses carried by women who are obese, diabetic or suffer from suboptimal nutrition are at increased risk of insulin resistance, obesity, type 2 diabetes (T2D), and cardiovascular disease as adults. Emerging data indicate that paternal e...

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

Background: Controversial findings about the metabolic profile in newborns depending on the length of gestation and size at birth have been reported.Objective and hypotheses: Insulinemia, adiponectin, and leptin levels are different in children born prematurely and SGA neonates compared to term normal newborns.Method: 196 healthy newborns were studied at the age 3-4 days. Birth weight (BW), birth length (BL), BMI, ponderal index (P...

Background: Underlying causes of obesity are thought to be rare even in specialized paediatric endocrinology clinics. However, evidence is limited. The Endocrine Society (ES) guideline for paediatric obesity makes the following diagnostic recommendations: endocrine evaluation in presence of reduced growth velocity, evaluation of cerebral obesity in presence of CNS injury, re-evaluation of drug choice in patients using antipsychotics. Genetic testing is recomme...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...