ESPE Abstracts

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

Background: Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne Muscular Dystrophy (DMD) are limited.Objective: To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.Method: Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently mana...

Background: The bone mass deficit in pediatric Crohn’s disease (CD) is associated with low total body lean mass and suppression of bone turnover.Objective and hypotheses: We examined at diagnosis whether the sarcopenia is associated with leg muscle hypofunction, changes in tibia muscle–bone indices as well as overt bone strength loss (vertebral fractures, VF).Method: 70% children with CD were studied within 2 weeks of dia...

Background: Early-life risk factors of childhood obesity include maternal obesity; smoking, diabetes and high weight gain during pregnancy for the mother; short duration of breastfeeding and poor quality of early feeding in the infants. Perinatal life thus may be a good period for primary prevention.Objective and hypotheses: We aimed to evaluate whether perinatal education of overweight pregnant women would reduce childhood overweight.<p class="abste...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Introduction: Childhood obesity rates have increased exponentially in the past three decades. Parental characteristics, such as weight status, physical activity (PA), education and smoking habits have been identified individually as being potential determinants of offspring obesity. However, no prospective studies have examined the joint impact of parental lifestyle habits on their offspring's adiposity. We identified clusters of parental characteristics, ...

Background: Childhood cancer survivors (CSS) are at risk for several late effects, among them increased risk of metabolic syndrome (MetS). We wanted to study if female hypogonadism was a risk factor for MetS.Method: This study included 167 female CCS, mean age 34.3 (19.3-57.8) years in the South region of Sweden and 164 matched controls, mean age 35.0 (19.3–58.0). The female CCS were diagnosed at mean age 8.9 (0.1-1...

The treatment of Polycystic Ovary Syndrome (PCOS) during adolescence is controversial. The aim of the international evidence-based guideline was to promote accurate diagnosis, optimal consistent care, prevention of complications and to improve patient experience and health outcomes. Extensive international health professional and patient engagement informed the priorities and core outcomes for the guideline. Internationally nominated panels including women with PCOS and a mult...

Background: In non-Caucasian youth residing in low-income settings, risk of mortality and rates of diabetes complications are substantially higher and clinical phenotypes may be distinct.Objectives: To assess the clinical presentation, glycemic control, and chronic complications of diabetes in Haitian youth residing in Haiti.Methods: Retrospective review between 01/2013–03/2018 of youth 0-25 years with diabetes followed at a c...

Introduction: Dyslipidemia has been recognized as a risk factor for cardiovascular diseases. Studies showed that the development of atherosclerotic lesions begins in childhood and progresses throughout life. While the prevalence of dyslipidemia in adults has been reported to be 10 times higher in Lebanon, there is no available data on the prevalence of dyslipidemic children in Lebanon.Objectives: This study was conducted to check if a protocol for univer...