ESPE Abstracts

Background: In 2011, nationwide growth charts were introduced, replacing different regional references (ZLS, Prader 1989; Sempé 1979 and, for BMI only, Kromeyer 2001).Objective and hypotheses: The aim was to examine the influence of new growth charts (WHO 2010) on the prevalence of nutrition- and growth-related disorders compared the ‘old’ references.Method: 6007 anonymised weight and height datasets of children meas...

Background: Multiprofessional therapy programs for obese children and their families, including physical activity, nutritional, and behavioral interventions, have been shown to be effective, in group (MGP) as well as in individual (MIT) settings. However, due to limited personal and financial resources, <1% of children affected participate in such programs.Objective and hypotheses: Health IT systems (HIS) have the potential to improve therapy assisti...

Background: Primary hypoaldosteronism (PA) is a rare inborn disorder with life-threatening symptoms in newborns and infants due to an aldosterone synthase defect. As plasma aldosterone concentration (PAC) can remain in the normal range, interpretation of the laboratory findings could be difficult and might lead to delayed initiation of therapy.Objective and Hypotheses: This study aims to show that PAC/PRC (plasma renin concentration) rat...

Background: The role of calcium in cardiovascular and metabolic risk is controversial.Objective and hypotheses: To examine the effect of highly mineralized natural water in lowering body weight, blood pressure, cholesterol and blood sugar and to assess health behaviour of the staff of a pediatric hospital.Method: Out of 650 pediatric hospital staff members, we examined 161 healthy subjects, aged 28–64 years, 77.5% women, two d...

Introduction: Primordial short stature can have many different causes. In addition to maternal factors (e.g. placental insufficiency), genetic or skeletal disorders may be found in the child. It is important to identify the underlying aetiology in time, since not only the risk of diabetes is increased, but also the prevalence of insufficient gonadal function and malignancy, e.g. in mixed gonadal dysgenesis (MGD).Case report: A 19 year old adolescent pres...

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometime...

Background: 3β-Hydroxysteroiddehydrogenase (3β-HSD) is a key enzyme in steroidogenesis, responsible for the conversion of Δ5- to Δ4-steroids. Deficiency in 3β-HSD results in congenital adrenal hyperplasia (CAH). The molecular etiology of 3β-HSD deficiency lies in a defect in HSD3B2 gene.Clinical case: A healthy newborn girl was admitted on day of life (DOL) 8 due to increased 17-OH-progesterone (17OHP) in newborn sc...

Background: 17a-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia (CAH). 46,XY infants may present with ambiguous genitalia. Adrenal crises are rare due to compensatory glucocorticoid action of the overproduced corticosterone.Case: A 3-month-old boy underwent a complication-free externalization of concealed penis and circumcision by a paediatric surgeon. At the age of 2.5 years, the boy...

Introduction: The COVID-19 pandemic led to regional lockdowns and restrictions associated with changes in lifestyle and quality of life (QoL) thus potentially burdening metabolic control in Diabetes Mellitus (DM). We examined whether the stages of restrictions lead to changes in QoL and metabolic control in children with DM.Methods: Starting in April 2020, this monocentric prospective longitudinal cohort study included c...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...