ESPE Abstracts

Introduction: As Indonesia begins implementing newborn screening (NBS) for congenital adrenal hyperplasia (CAH), pediatricians must be prepared to promptly and correctly diagnose and manage CAH. The aimof this study was to explore the knowledge, perspectives and experience of Indonesian pediatricians and pediatric residents regarding CAH.Methods: A cross-sectional electronic survey via Google Form was disseminated during...

Introduction: General practitioners (GP) are often the first point of contact for patients presenting with symptoms of congenital adrenal hyperplasia (CAH). With a limited number of pediatricians and pediatric endocrinologists as well as the upcoming universal implementation of CAH newborn screening (NBS) in Indonesia, the role of GPs in the diagnosis and emergency management of CAH cannot be overstated. This is the first study to explore the knowledge, attitu...

Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Regis...

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: 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...