ESPE Abstracts

Background: Constitutional Delay of Growth and Puberty (CDGP) is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed bone age and pubertal delay. CDGP can cause significant psychological stress and anxiety in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity is not widely reported.Obj...

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

Background: Congenital Hyperinsulinism (CHI) is the commonest cause of persistent neonatal hypoglycaemia and is characterised by inappropriately detectable plasma insulin during hypoglycaemia. Management depends on the timely analysis of biochemical parameters, which would help initiate appropriate management and avoid potential neurological compromise. The technical difficulties in sending the appropriate sample and the delay in processing the sample in the lab sometimes cont...

Background: Pituitary hormone deficiency combined type 3 (CPHD3; MIM# 221750) is an autosomal recessive combined pituitary hormone deficiency caused by mutations in LHX3, a LIM-homeodomain transcription factor gene which is necessary for the normal pituitary and motorneuron development.Aims: Clinical manifestations of CPHD3 are pituitary dwarfism and might be accompanied by rigid cervical spine leading to limited neck rotation or sensorineural deafness. ...

Background: Hyperthyroidism is uncommon in children. Graves’ disease is the most common cause in pediatric population. The diagnosis is based on the presence of anti-TSH receptor antibodies. Pediatric Graves’ disease has some peculiarities mainly in term of treatment and evolution, since its prognostic is different than adults.Aim: The aim of this study is to describe the epidemiological, clinical and biological features of pediatric Graves...

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

Background: Graves’ Disease (GD) is the most common cause of hyperthyroidism in children and develops because of stimulation of the thyroid gland by TSH receptor auto-antibodies (TSHR Ab). An increased risk of obesity has been described in both adults and children following initiation of anti-thyroid drug (ATD) therapy but the longer term impact of GD and it’s treatment on physique in children is unclear.Aims:</strong...

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...