hrp0084p3-834 | Fat | ESPE2015

Liver Steatosis in Obese Children Courses with Enhanced Insulin Resistance and Dyslipidaemia, Which are Influenced by Gender, Puberty, Race and Body Fat Distribution

Martos-Moreno Gabriel A , Martinez-Villanueva Julian , Gonzalez-Leal Rocio , Sirvent Sara , Minguez Arturo , Martinez Guillermo , Hawkins Federico G , Argente Jesus

Background: Liver steatosis (LS) is diagnosed in obesity at very early ages, not exclusively related to overweight severity.Objective and hypotheses: To investigate the features of patients diagnosed with obesity associated LS (ultrasonography).Method: We retrospectively studied 88 obese (BMI>+2 SDS) children with LS (LS-OB) and 88 age, gender, race and puberty matched obese children without LS (no-LS-OB). BMI-SDS, body composi...

hrp0084p3-938 | GH & IGF | ESPE2015

An Open-Label Phase 2 Dose-Finding Study Comparing Three Different Doses of Weekly TV-1106 and Daily Recombinant Human GH (Genotropin®) in Treatment-Naive, Pre-Pubertal, GH-Deficient Children

Rosenfeld Ron G , Wit Jan M , Malievsky Oleg , Bolshova Elena , Brown Kurt , Sakov Anat , Anscheutz Gaya , Bassan Merav , Butler Kathleen

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...

hrp0084p3-1007 | Growth | ESPE2015

Depth and Timing of Hypoglycaemia Achieved During Insulin Tolerance Test in Children

Wong S C , Boroujerdi M , McNeilly J , Morris W , Carson C , Mason A , Shaikh G , Ahmed S F

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

hrp0084lbp-1265 | Late Breaking Posters | ESPE2015

Profiling of a Novel NSIAD-Causing Mutation of Vasopressin Receptor 2 and its Differential Effect on Receptor Trafficking Compared to Previously Identified Mutations

Tiulpakov Anatoly , White Carl W , Abhayawardana Rekhati , Zubkova Natalia , Seeber Ruth M , See Heng B , Pfleger Kevin D G

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...

hrp0094p2-188 | Fat, metabolism and obesity | ESPE2021

Development of a predictive normogram to assess the risk of liver steatosis in childhood obesity

Martos-Moreno Gabriel A. , Maria Andres-Esteban Eva , Martinez-Villanueva Julian , Sirvent Sara , Hawkins Federico G. , Argente Jesus ,

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

hrp0094p2-375 | Pituitary, neuroendocrinology and puberty | ESPE2021

Salivary sex steroids as markers of puberty in boys during late childhood and adolescence

Patjamontri Supitcha , Spiers Alexander , Smith Rachel B , Shen Chen , Adaway Jo , G Keevil Brian , Toledano Mireille B , Ahmed S Faisal ,

Introduction: Salivary androgens represent a non-invasive marker of puberty that may have utility in population studies as well as in the clinical arena.Objectives: To establish normal reference values of salivary androgens using LC-MS/MS and demonstrate the correlations between salivary androgens and pubertal development in boys.Methods: School-based adolescent cohort study with t...

hrp0094p2-423 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Diagnostic dilemma in a patient with central precocious puberty: Ovarian steroid cell tumor

Balki Hanife Gül , Ata Aysun , Karayazılı Ayşe Merve , Serin Gürdeniz , Koç Gonca , Özdemir Necmettin , Çelik Ahmet , Özen Samim , Gökşen Damla , Darcan Şükran

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

hrp0092fc10.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Fruit Fly, Drosophila Melanogaster, as a Model to Elucidate Human Differences of Sex Development (DSD)

Mercadé Ivan Domènech , Sotillos Sol , Gutiérrez Daniel Rodríguez , Nef Serge , Hombría James C-G , Biason-Lauber Anna

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

hrp0092p1-160 | Adrenals and HPA Axis (1) | ESPE2019

Serum fetuin-A and insulin levels in classic congenital adrenal hyperplasia

Kurnaz Erdal , Çetinkaya Semra , Özalkak Servan , Bayramoglu Elvan , Demirci Gülsah , Öztürk Hasan Serdar , Erdeve Senay Savas , Aycan Zehra

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...

hrp0092p1-245 | Multisystem Endocrine Disorders | ESPE2019

PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

Manyas Hayrullah , Çatli Gönül , Eroglu Filibeli Berna , Ayranci Ilkay , Özdemir Taha Resid , Dündar Bumin Nuri

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...