ESPE Abstracts

Background: Premature thelarche is the isolated breast development in girls <8 years of age unaccompanied by other signs of puberty including advanced bone age or growth spurt. The GnRH stimulation test is used to distinguish between premature thelarche and central precocious puberty.Objective and hypotheses: We studied accuracy of the gonadotropin responses to GnRH stimulation in predicting pubertal progression in children diagnosed with premature t...

Background: Premature pubarche (PP) is known to be a risk factor the development of metabolic syndrome (MS) and hyperandrogenism.Aims: To evaluate if glucose and insulin metabolism, cardiovascular risk factors and cardiovascular risk factors in family (FCVRF) create a risk for insulin resistance (IR) and if PP is a risk factor alone for MS and hyperandrogenism in normal weighted prepubertal PP girls.Methods: Prepubertal and non-obe...

Background: Few studies have investigated the association between the development and progression of diabetic retinopathy and autoimmune processes resulting from HLA genotype and the relationship of these genes with islet autoantibody status.Objective: This study explored how serum diabetes autoantibodies are related to the development of early diabetic retinopathy (EDR) in children with type 1 diabetes mellitus (T1DM).<...

Objective: To evaluate metabolic syndrome parameters in children with premature adrenarche (PA) during presentation in prepuberty and afterwards in puberty.Methods: 54 (48 femals, six males) patients (mean age 12.5±2.4 years) diagnosed with PA and followed until puberty were included in our study; as the control group 28(22 females, six males) (age, sex, puberty matched) healthy children (mean age 13.5±2.2 years) were taken. CAH was ruled out i...

Background: GH treatment may cause insulin resistance, which is associated with metabolic syndrome and co-morbidities.Objective and hypotheses: The aim of our study was to evaluate GH deficiency (GHD) patients on GH treatment for hyperlipidemia, insulin resistance and carotid intima media thickness (CIMT) and left ventricular global longitudinal strain (GLS) and assess cardiovascular tissue level effects of insulin sensitivity.Meth...

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

Background: Hypoglycaemia is a common critical condition in paediatric emergencies, with diverse aetiologies including metabolic disorders and endocrine dysfunctions. Adrenal insufficiency is a life-threatening cause, that requires prompt diagnosis and intervention. This case study presents a rare incidence of hypoglycaemia secondary to adrenal failure in a paediatric patient with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder affecting multiple systems...

Presentation: A 15-year-old girl presented to Paediatric A&E with lethargy, polyuria, polydipsia and blurred vision. Initial blood gas showed a pH of 7.28, blood glucose unrecordable and ketones of 4mmol/L. The patient was started on IV fluids and insulin, according to the diabetic ketoacidosis (DKA) protocol, and a new diagnosis of type 1 diabetes mellitus was made.Investigations: Finger-prick capillary sampling pro...

Background: Melanocortin-4 receptor (MC4R) mutations are the most common known cause of monogenic obesity but there is no data for Turkish children.Objective: To determine the prevalence of MC4R mutations in a group of Turkish morbid obese children and adolescents.Method: MC4R gene was sequenced in 47 consecutive morbidly obese children and adolescents (28 girls and 19 boys, aged 1–18 years) who presented dur...

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...