ESPE Abstracts

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

Background: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with very close phenotypic (prenatal and postnatal growth retardation, early feeding difficulties, early puberty) and molecular anomalies. Our objective was to describe the clinical overlap between SRS and TS and to extensively study the molecular aspects of patients with 14q32.2 molecular disru...

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

Background: Polymorphic genes Val158Met gene catechol-O-metiltrasferaz (COMT) are used to be responsible for less neurotransmitters utilization.Objective and hypotheses: To determine the peculiarities of neurotransmitters levels in children with obesity and different genotypes of COMT gene.Method: We examined 191 pubertal obese children. Patients were divided: Group1 (simple obesity) 143 children, 14.3±1.8 years, 30.6±2.8...

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...

Background: A compromised final height (FH) is a concern in patients diagnosed with congenital adrenal hyperplasia (CAH). The lack of achievement of the genetic target height (TH) can be attributed to treatment with high doses of corticosteroids and high levels of adrenal androgens. Despite the emergence of new therapeutic modalities such as the use of anti-androgens and growth hormone it has been shown that a favorable FH can be achieved with careful use of corticosteroids.</...

Background: Abdominal fat distributions are reportedly strongly associated with metabolic risks in type 2 diabetes mellitus. However, research on fat distribution in adolescents with type 2 diabetes mellitus has been limited.Aim: To investigate fat distribution characteristics in adolescents with type 2 diabetes mellitus for comparison to those with simple obesity in Japan.Design/Methods</s...

Objectives: -To determine children diagnosed with central congenital hypothyroidism (CCH) by a screening program using TSH and total T4 between May 2016 and January 2019.-To analyze the characteristics of the disease in these children.Material and Methods: During the time of the study, 14.743 newborns have been screened. Cut-off points are used for TSH ≥10MU/ml and T4 6 and 20 mg/dl as lower ...

Background: A 10 year old girl with a background history of severe autism and developmental delay presented with significant and rapidly progressive asymmetrical breast enlargement accompanying her relatively rapid progress through puberty. There was associated tissue breakdown exacerbating her discomfort and leading to increasing problems with anxiety and behaviour.Objective and hypotheses: To explore the aetiology of the huge breast development and the...

Background: Serotonine transporter gene (SLC6A4) polymorphism is one of genetic aspects of appetite and mood disorders.Objective and hypotheses: To determine the frequencies of 5-HTTLPR locus in promotor part of serotonine transporter gene (SLC6A4) polymorphism in children with different forms of obesity.Method: We examined 191 pubertal obese children. Patients were divided: Group 1 (simple obesity) 143 children, 14.3±1.8 year...