ESPE Abstracts

Background: Primary IGF1 deficiency (PIGFD) is a rare disease defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. Whereas some members of the GH–IGF axis have been shown to be implicated in the severe syndromic forms of PIGFD due to GH insensitivity, genetic causes of less severely affected patients are mostly unknown.Objective and hypotheses: The aim of the present study was to systematically investigate fr...

I review the mental health difficulties that transgender and gender diverse children and adolescents may present with, specifically emotional difficulties. Many studies reveal depression scores and parent and self-reported measures of emotional and behavioral problems that are comparable to mental health clinic referred populations. Children and adolescents who feel that they are acknowledged and supported in their gender diverse feelings, e.g. by receiving gender affirming me...

Objectives: To describe the Health Related Quality of life (HrQoL) of children/adolescents with GH Deficiency (GHD) and to examine the effects of sociodemographic (i.e., patients’ age, sex and family socioeconomic status) and clinical characteristics (i.e. degree of short stature and duration of treatment) on HrQoL from patients’ and their parents’ perspectives. Associations between QoLISSY questionnaire and demographics were evaluated using Mann-Whitney or Krus...

It is acknowledged that children should collaborate in research about their health conditions, and DSD research has been criticised for promoting views of parents and health professionals. However parents are concerned about professionals talking to children about sensitive subjects including fertility and sexual activity. Children may have little experience of talking about their sex development. This makes direct research involving children with DSD particularly challenging....

Background: Obese children come from families where either one or both parents are obese, suggesting obesity is the result of exposure to detrimental environment.Objective and hypotheses: We propose that inherited insulin resistance is the core which promotes development of obesity and that allergic airway obstruction stalls development of obesity, while peptic gastritis promotes over-eating by confounding portion control.Method: W...

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

Objective: To assess health-related quality of life (HRQOL) in a cohort of children and adolescents with type 1 Diabetes (T1DM) and its associated factors.Methods: This was a descriptive study of 136 patients with T1DM from five hospitals in Catalonia, Spain (72 girls, mean age 13.4 years (range 8–19). Inclusion criteria were more than 6 months from diagnosis, more than 8 years old and without cognitive problems. Sociodemographic (age, sex, family l...

Background: Low birth weight and unfavourable intrauterine conditions are associated with long-term effects on life.Objective and hypotheses: In a longitudinal study, we followed genetically identical twins with intra-twin birth-weight (bw) differences due to twin–twin transfusion syndrome from birth until after puberty. We propose that differences in birth weight lead to differences in hormone levels with effects on personality and cognitive functi...

Background: Diabetes as a disease and its treatment can have a profound effect on the quality of life (QoL) in terms of social and psychological well-being as well as physical ill health. Current goals of diabetes management focus on optimising metabolic control, along with preserving a good QoL.Aims and objectives: To assess QoL in adolescents with type 1 diabetes (T1D) at the Diabetes Endocrine and Metabolism Pediatric Unit at Cairo University.<p c...

Background: Treatment of precocious puberty with GnRH analogues is well established. But there are concerns about weight gain in patients on this treatment. There have been conflicting reports about the effect of GnRH analogues on weight.Objective and hypotheses: To assess the change in BMI in children treated with GnRH analogues within a UK Endocrine Service and to analyse the patient/parent experience of the treatment.Method: A r...