ESPE Abstracts

Background: Short stature has been associated with a reduction in health-related quality of life (HRQoL) and more problem behavior in children and adults. In adolescents who were treated with growth hormone (GH) because of persistent short stature after being born SGA, an increase in HRQoL and decrease in behavioral problems was seen during or right after cessation of GH-treatment. However, long-term data, to analyze if these positive effects remain many years...

Background: Primary aldosteronism (PA) is a rare form of secondary hypertension. In adults PA is often caused by unilateral adrenal adenoma which can be cured by unilateral adrenalectomy. However, in young patients hereditary causes of PA have to be considered with bilaterally affected adrenal glands.Objective and hypotheses: We report on an adolescent with PA due to a recently described KCNJ5 mutation and want to point out the importance of performing m...

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

Context: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone (GH) treatment are well established. Currently, when young adults with PWS have attained adult height (AH), they have to stop GH treatment. Several one year studies have shown that GH treatment is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects.Objective: To investi...

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...

Background: Childhood obesity is associated with advanced bone age (BA), leading to an altered growth pattern. Previous results of studies suggest that androgens, estrogens, sex hormone binding globulin (SHBG) and insulin are responsible for this phenomenon, but results are contradictory and might be biased by confounders.Objective and hypotheses: To investigate the independent effects of estrogens, androgens, SHBG and insulin parameters on BA advancemen...

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...

Background: Adolescence is often a period of worse metabolic control and less wellbeing in diabetic children. We studied global (GW) and diabetic-related (DRW) wellbeing in diabetic adolescents and the influence of sex, age, ethnic origin, family composition (single- or two-parent family), family income and metabolic control.Method: 133 (71 girls, 120 autochthonous, 20 treated with CSII, 107 from a two-parent family, 68 from families with a monthly incom...

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...