hrp0082p1-d3-93 | Sex Development | ESPE2014

Ex vivo Culture of Human Fetal Gonads: Manipulation of Meiosis Regulation Affects Testis Development

Jorgensen Anne , Nielsen John E , Perlman Signe , Lundvall Lene , Juul Anders , Rajpert-De Meyts Ewa

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

hrp0082p2-d1-363 | Fat Metabolism & Obesity | ESPE2014

Novel Uncoupling Protein 1 Expression in White Adipocytes of Subcutaneous Abdominal Adipose Tissue in Children and Adolescents: A Protective Mechanism for Metabolic Equilibrium?

Karvela Alexia , Avgeri Aikaterini , Vlotinou Eleni D , Georgiou George , Papachristou Dionysios J , Spiliotis Bessie E

Background: Morbid childhood obesity predisposes to metabolic disorders such as diabetes type 2. In mice, heat-producing ‘brown-like’ (beige) adipocytes can suppress weight gain and metabolic disease through the action of uncoupling protein 1 (UCP1) localized in the mitochondria.Objective and hypotheses: To study the expression of UCP1 in the adipose tissue of lean&obese children and adolescents.Method: Paraffin embed...

hrp0082p2-d3-403 | Fat Metabolism & Obesity (2) | ESPE2014

Concomitant Changes in Full Body DXA Values and BMI–SDS During Multidisciplinary Treatment of Childhood Obesity

Nielsen Tenna R H , Fonvig Cilius E , Gerds Thomas A , Lausten-Thomsen Ulrik , Holm Jens-Christian

Background: Childhood obesity and related co-morbidities are increasing world wide and consequently effective treatment interventions are much needed.Objective and hypotheses: The aim was to investigate concomitant changes in body composition in relation to changes in BMI–SDS during The Children’s Obesity Clinics Treatment (TCOCT) program. Hypothesis: reductions in body fat percentage may not be revealed by reductions in BMI–SDS.<p cla...

hrp0082p2-d1-421 | Growth Hormone | ESPE2014

The Effects of Delaying Puberty with GnRH Agonists in Patients with Idiopathic GH Deficiency

Dunger David B , Lindberg Anders , Dorr Helmut G , Camacho-Hubner Cecilia , Geffner Mitchell E

Background: Treating central precocious puberty with GnRH agonist (GnRHa) to increase height gain is well-established. Although not recommended, GnRHa have also been used in patients with IGHD at onset of puberty yet there are few data on its efficacy.Objective and hypotheses: Growth prediction models derived from KIGS (Pfizer International Growth Database) may provide an opportunity to estimate additional height gain produced by pubertal blockade.<p...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0082p3-d2-824 | Growth (1) | ESPE2014

GH Deficiency in a Case with Neurofibromatosis-Noonan Syndrome

Vuralli Dogus , Gonc E Nazli , Vidaud Dominique , Ozon Z Alev , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Neurofibromatosis-Noonan Syndrome (NFNS) is a distinct entity which has variable features of both neurofibromatosis 1 (NF1) and Noonan syndrome (NS). In majority of cases NF1 mutations have been demonstrated. Short stature is one of the major causes for these patients requiring medical attention. GH deficiency (GHD) may accompany in some cases with NF1 or NS cases, however there are rare case reports on NFNS receiving GH therapy.Objective and...

hrp0082p3-d1-955 | Sex Development | ESPE2014

Severe Undervirilisation in a 46,XY Case due to a Novel Mutation in HSD17B3 Gene

Alikasifoglu Ayfer , Vuralli Dogus , Hiort Olaf , Gonc E Nazli , Ozon Z Alev , Kandemir Nurgun

Background: 17-β-hydroxysteroid dehydrogenase 3 (17-β-HSD3) deficiency is a rare disorder of sex development due to impaired conversion of androstenedione to testosterone. Children with 46,XY karyotype often have female appearing external or ambiguous genitalia at birth. At the time of puberty, virilisation can occur. Therefore 46,XY patients with HSD17B3 gene defects should be raised as male.Objective and hypotheses: When a child with 46,XY ka...

hrp0084wg3.4 | DSD | ESPE2015

I-DSD and I-CAH Registry Update

Ahmed Faisal , Bryce J , Jiang J , Watt J , Rodie M E

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

hrp0084fc8.2 | Obesity - Basic | ESPE2015

Apoptosis Inhibitor of Macrophages: an Anti-Inflammatory Adipocyte Factor in Mild Adolescent Obesity?

Karvela Alexia , Avgeri Aikaterini , Vlotinou Eleni D , Georgiou George , Papaxristou Dionysios , Miyazaki Toru , Spiliotis Bessie E

Background: Adipose tissue (AT) in obesity is characterized by low grade inflammation. The apoptosis inhibitor of macrophages (AIM; also called CD5L) is incorporated into adipocytes leading to increased lipolysis. Excess AIM-dependent lipolysis induces adipose tissue macrophage recruitment. M1 (proinflammatory) macrophage infiltration, with surface marker CD40, correlates with metabolic complications.Objective and hypotheses: To study serum levels and AT...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...