ESPE Abstracts

Objectives: Age at menarche depends on genetic, environmental, epigenetic and other factors. Studies have shown that aspects of perinatal history, including birth weight, mode of delivery (caesarian section or vaginal delivery) and gestational week at birth influence the onset of puberty. The purpose of this study was to record the age at menarche in a sample of Greek girls and to correlate it with their perinatal history, the mothers’ age at menarche, t...

Background: Prader Willi Syndrome (PWS) patients under treatment with growth hormone (GH) have a better body composition and cognitive performance than untreated patients. The 2013 guideline recommended to start this treatment as soon as possible, for that reason 14 toddlers have been included in our center. Classically a 25% decrease in the caloric intake of PWS patients has been recommended to avoid obesity. However, from clinical practice observation, w...

Background: Working as a physician is accompanied by emotional and physical stress.Objective and hypotheses: Our study aimed to investigate the effect of working day and night in a children’s hospital on catecholamine excretion as a marker for acute stress and to work out possible gender differences.Methods: 22 paediatricians (ten females, 12 males) aged 27–41 years collected four 12-h urine samples: two during a 24 h-shi...

Introduction: Body mass index (BMI) and waist circumference (WC) are the main anthropometric measures of obesity. However, their inability to take into account body fat distribution raises queries for their predictive value of insulin resistance (IR) in youth.Aim: The aim of this study is to compare BMI and WC with latest anthropometric indices in the assessment of IR in a paediatric Greek population with overweight and ...

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Background: Anogenital distance (AGD) is an indicator of androgen action in utero. Reduced AGD has been found in males with hypospadias, cryptorchidism, low semen quality and infertility. Its usefulness as a clinical marker in patients with Disorders of Sex Development (DSD) is currently being investigated. However, detailed age, sex and method related reference ranges do not exist. Whether individual (body-size-adjusted) AGD is stable postnatally also remains to be e...

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...