ESPE Abstracts

Introduction: Vitamin D plays a key role in bone health of adolescents. Meanwhile, its potential extra-skeletal health benefits have resulted in the association of vitamin D deficiency with a wide range of acute and chronic diseases. As a consequence, hypovitaminosis D in adolescence is considered to have serious adverse effects and is highlighted as a global public health concern. Practical guidelines help clinicians make their preventive and therapeutic choices and improve c...

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: 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...

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...

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: 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...

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...

Purpose: Clinical problems caused by impaired molecular function of inborn errors of immunity (IEI) genes are not limited to the immunological system but can also affect the endocrine system. An autosomal recessive form of severe congenital neutropenia also known as Kostmann syndrome (KS) is caused by mutations in the gene encoding the mitochondrial protein HAX1. Knowing that most endocrine disorders associated with IEI are hypofunction, a close cooperation be...

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...