ESPE Abstracts

Introduction: The goal of treating short children with growth hormone (GH) is to normalize adult height adjusted for mid parental height (MPH). We obtained adult height data on 87 patients (23 girls, 64 boys) treated with GH who originally participated in a randomized, prospective, open-label clinical trial with either personalized dose based on a prediction model (n=58), or standard dose (n=29). The children were either growth hormone defici...

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

Background: Steroidogenic Factor 1 (SF-1), encoded by NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene, is a transcriptional factor that is primordial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance, from adrenal insufficiency to gonadal dysgenesis and oligospermia-azoospermia in 46,XY patients.Obj...

Neonatal diabetes is characterised by hyperglycaemia in the first 6 months of life. Transient neonatal diabetes (TND) is differentiated from permanent neonatal diabetes by its remission in infancy/early childhood, with possible relapse during adolescence in 50% of the cases. Incidence of neonatal diabetes is thought to range from 1:90,000 to 1:160,000. A gene mutation affecting pancreatic beta cells synthesis/secretion of insulin is present in more than 80% of the cases. Overe...

Introduction: Over recent years, hyperinsulinaemic hypoglycaemia is being increasingly recognised in at-risk neonates; it is important to recognise and manage this promptly in view of the risk of hypoglycaemic brain injury.Aims: To recognise signs and symptoms of hypoglycaemia in neonates with hyperinsulinaemic hypoglycaemia.Methods: Neonates from the neonatal intensive care units ...

Introduction: Mammalian sex development is directly dependent on gonadal determination. Whole exome sequencing in patients with differences of sex development (DSD) allows the discovery of new factors involved in human sex development. One of these factors is NWD1 (NACHT and WD repeat domain containing 1) a cytosolic protein that seems to play a role in modulating androgen receptor signaling. We identified variants in the NWD1 gene in six und...

Background: Congenital adrenal hyperplasia (CAH) is a rare form of adrenal insufficiency characterized by impaired cortisol synthesis leading to excessive adrenal androgen production. Little is known regarding the effects of early and chronic androgen exposure in children with CAH, and whether this exposure may increase the risk of developing attention-deficit/hyperactivity disorder (ADHD) during childhood. The only study on the subject, based on a small sampl...

Objectives: To evaluate prognostic factors of the growth hormone (GH) treatment effectiveness in children with Turner syndrome (TS).Methods: Retrospective observational study was conducted for 62 patients with TS (32 girls (52%) with 45,X karyotype, 8 (13%) with mosaic variant 45,X/46,XX, and 22 patients (35%) with structural abnormalities of X chromosome). All patients were treated with GH at a dose of 0.33 ...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...