ESPE Abstracts

Introduction: Hypophosphatasia (HPP) is the rare, inherited, metabolic disease with broad-ranging severity caused by inactivating mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. In the childhood form of HPP, there are mineralization defects of the bones and teeth, often with impaired physical function, muscle weakness, and decreased growth. We previously reported sustained radiographic improvement in rickets compared to historical controls in 5–1...

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...

Background: The actual Swedish growth references are based on a cohort born 1974.Objective and hypotheses: Due to secular changes there is need for new height references.Method: Material: Height measurements from birth to adult height (AH) in a cohort of healthy, Nordic and born full term 1990, 20.796 from 1647 boys, 19.202 from 1501 girls were used (ALL) and compared to both a subgroup with puberty close to mean (PHV &#17...

Background: In a recent report we have identified multinodular goiter (MNG) as a condition with an increased risk for thyroid malignancy in children and adolescents.Objective and hypotheses: To report the prevalence and characterization of a prospectively and uniformly followed cohort of pediatric patients with MNG and to retrospectively analyze differences between benign and malignant MNG before surgery in order to identify malignancy predictors.<p ...

Background: Hypogonadotropic hypogonadism (HH) in females is an uncommon and heterogeneous condition. There is little data regarding biochemical profile of gonadotropins to further substantiate the diagnosis.Objective: To evaluate the gonadotropaic secretion profile after GnRH infusion in a female cohort diagnosed with HH.Patients and methods: GnRH iv infusion test (0–120 min) were performed in 17 patients (17.5±2.3 years...

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...

Background: The aim of the study was to describe the incidence and prevalence trends of diabetes mellitus (DM) type 1 in children of different age groups in Ukraine during 2002–2012.Objective and hypotheses: Ukraine has a 25 districts, with a population of 45 553 000, including 7 971 638 children.Method: We analyzed data based on a clinical diagnosis in child population aged 0–17 years old centrally from all regions of Uk...

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...