ESPE Abstracts

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

Background: In X-linked hypophosphatemia (XLH), abnormally elevated serum fibroblast growth factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption (TmP/GFR), low serum phosphorus (Pi), inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) and development of rachitic deformities.Methods: Up to four s.c. KRN23 doses were given every 28 days to 28 adults with XLH according to a dose-escalation algorithm (0.05&#1...

Background: In X-linked Hypophosphatemia (XLH), abnormally elevated serum Fibroblast Growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption (TmP/GFR), low serum phosphorus (Pi), inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) and development of rachitic deformities.Methods: Up to four SC KRN23 doses were given every 28 days to 28 adults with XLH (26 completed) according to a dose-escalation algorithm (0.05&...

Objectives: In X-linked hypophosphatemia (XLH), abnormally elevated serum Fibroblast growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption, low serum phosphorus, inappropriately normal 1,25-dihydroxyvitamin D, and development of rachitic deformities. The effect of KRN23 on health-related quality of life (HRQL) was assessed.Methods: Open-label KRN23 was given s.c. every 28 days up to four doses to 28 adults with XLH (2...

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...

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

Background: The etiology of infantile colic is unknown. Its timing overlaps with that of minipuberty. To the best of our knowledge, the relationship between these entities has not been investigated. In this study, we aimed to assess the relationship between minipuberty and infantile colic by measuring the levels of sex steroids in saliva among infants with and without infantile colic.Methods: Saliva samples were collecte...

The congenital central hypothyroidism (CCH) incidence is estimated at 1:18,000-30,000 neonates and most are included in multiple pituitary deficiencies (MPD). Clinical depend on the etiology, the deficit severity; other associated hormonal alterations and the age of diagnosis. Neonatal screening (NS) for congenital hypothyroidism that includes T4 facilitate its diagnosis.Objetives: •To evaluate the characteristics of patients with C...

Introduction: Aromatase inhibitors (AIs) are increasingly used in children and adolescents to augment adult height. Given the potential risks of these drugs in women with breast cancer, detailed cardiovascular examinations in adolescents using these treatments are needed to ensure their safety in the pediatric group. The aim of this study was to investigate the effects AIs on cardiac morphology, functions and their relation to several metabolic parameters in a...

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...