hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0095p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Report of the first paediatric case of hypercalciuric hypocalcaemia managed with simultaneous parathyroid and kidney transplantation

Oprea Alina , Jones Helen , Buck Jackie , Kessaris Nicos , D. Sinha Manish , Ware Nick , Cheung Moira

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

hrp0092rfc2.3 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Growth Hormone Effects on Metacarpal Bone Geometry and Bone Age in Growth Hormone-Deficient Children

Martin David D , Ranke Michael B , Henrik Thodberg Hans , Binder Gerhard

Purpose: To track the effects of growth hormone on bone geometry and maturation in children with isolated growth hormone deficiency (GHD).Methods: 299 left hand X-rays from 77 short prepubertal children (54 boys and 23 girls) with isolated GHD were analysed for changes in metacarpal thickness, width, length, medullary diameter, the Bone Health Index (BHI) and bone age (BA) from one year preceding until four years after s...

hrp0092p3-306 | Late Breaking Abstracts | ESPE2019

Improvement of Metabolic Control in Children with Type1 Diabetes Using Continuous Glucose Monitoring Devices

Gil-Poch Estela , Roco-Rosa María , Javier Arroyo-Díez Francisco

Introduction: Achieving metabolic control in children with type 1 diabetes (T1DM) is not an easy task. Despite the new profiles of insulins and therapies with continuous infusion, hypoglycemia continue to be the most important barrier that prevents us from correctly controlling these patients.Close control of capillary glycaemia is important for treatment adjustment. This self-control provides us with static information about capillary g...

hrp0089p1-p156 | GH &amp; IGFs P1 | ESPE2018

The Effect of Growth Hormone Treatment in Children after Hematopoietic Stem Cell Transplantation

Hoekx CA , Bresters D , Le Cessie S , Scholte C , Oostdijk W , Hannema SE

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...

hrp0086rfc4.2 | Pathophysiology of Obesity | ESPE2016

Adipocytokines Delay Pubertal Maturation of Human Sertoli Cells

Wagner Isabel V. , Yango Pamela , Svechnikov Konstantin , Tran Nan D. , Soder Olle

Background: Obesity and metabolic syndrome related co-morbidities are increasingly recognized in children. Reproduction is an important target of obesity complications, including adverse effects on spermatogenesis and steroidogenesis in males. Adipocytokines are key players in various complications of obesity.Objective and hypotheses: The aim was to study the potential effects of adipocytokines on Sertoli cell function and possibly link the findings to t...

hrp0086p2-p656 | Growth P2 | ESPE2016

Improved Growth Outcomes with Jet Delivery of Growth Hormone in Children are Maintained Over Long-Term Treatment

Michaelidou Maria , Knight Alastair D , Whitten Sue , Bajaj Priti , Spoudeas Helen A

Background: We previously reported in a national cohort, that adherence to subcutaneous Growth Hormone (GH) treatment in children is better with jet delivery compared with needle devices (Spoudeas et al. Patient Prefer Adherence. 2014;8:1255–1263). We also separately reported that adherent children showed significantly improved height outcomes at one year.Objective and hypotheses: To examine the potential influence of adherence and demograp...

hrp0082fc8.6 | Fat Metabolism | ESPE2014

A Novel Missense Variant in the Insulin Receptor Gene in Three Unrelated Irish Families with Severe Insulin Resistance Syndrome: Evidence for an Irish Founder Effect

Mavinkurve M , O'Connell S , Cody D , Isaac I , Harris J , Semple R K , Mc Donnell C

Background: Genetic defects in the insulin receptor (INSR) are rare. Precise prevalence is unknown and significant clinical heterogeneity exists. Over 120 allelic variants have been described to date, spread throughout the receptor, and few geographical founder effects have been described. In this case series we identify a novel missense mutation in the tyrosine kinase domain of the INSR in three independently ascertained Irish families.Objective and Hyp...

hrp0082p1-d2-11 | Adrenals &amp; HP Axis | ESPE2014

Identification of a Novel Large CYP17A1 Deletion by Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Classic 17-Hydroxylase Deficiency

Guran T , Turkkahraman D , Ivison H , Griffin A , Vijzelaar R , Krone N

Background: Steroid 17-hydroxylase deficiency (17OHD) (OMIM 202110) is a rare form of congenital adrenal hyperplasia caused by loss-of-function mutations in the 17α-hydroxylase (CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. The CYP17A1 gene is located on chromosome 10 and has eight coding exons. Herein, the molecular basis of 17OHD in a...

hrp0082p1-d2-41 | Bone | ESPE2014

Young Adults with Klinefelter Syndrome and Congenital Anorchia Treated with Testosterone Have Normal Bone and Muscle Mass but Increased Central Adiposity

Wong S C , Scott D , Tandon S , Ebeling P , Zacharin M

Background: Decreased bone density using DXA is reported in mixed cohorts of testosterone treated and testosterone naïve men with Klinefelter syndrome (KS). Bone mass and body composition in men with congenital anorchia (CA) have never been previously reported.Objective and hypotheses: Men with KS and CA treated with testosterone from adolescence have normal bone mass and body composition.Method: Whole-body DXA and tibial (66%...