hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

hrp0089rfc1.4 | Adrenals & HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

Idkowiak Jan , Elhassan Yasir S , Mannion Pascoe , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy G , Shaw Nick J , Krone Nils , Dias Renuka P , Kershaw Melanie , Kirk Jeremy , Krone Ruth E , O'Reilly Michael W , Arlt Wiebke

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

hrp0089rfc6.5 | Fat, Metabolism and Obesity | ESPE2018

High-Throughput Untargeted Plasma Metabolomics Unravels Gender Dimorphic Metabolic Trajectories in Naturally Conceived and ICSI Prepubertal Children

Telonis Aristeidis G , Gkourogianni Alexandra , Papassotiriou Ioannis , Konsta Maria , Papastamataki Maria , Margeli Alexandra , Bartzeliotou Anastasia , Mantzou Emilia , Kosteria Ioanna , Mastorakos George , Loutradis Dimitrios , Chrousos George P , Klapa Maria I , Kanaka-Gantenbein Christina

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...

hrp0082ha2 | Pubertal onset in girls is strongly influenced by genetic variation in promoters affecting FSH action | ESPE2014

Pubertal Onset in Girls is Strongly Influenced by Genetic Variation in Promoters Affecting FSH Action

Hagen Casper P , Sorensen Kaspar , Aksglaede Lise , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Petersen Jorgen H , Main Katharina M , Meyts Ewa Rajpert-De , Almstrup Kristian , Juul Anders

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

hrp0082p3-d1-766 | Fat Metabolism &amp; Obesity | ESPE2014

Positive Association of Pro-Oxidative Stress Markers with Adipose Mass in Pre- and Early-Pubertal Boys

Paltoglou George , Schoina Maria , Valsamakis George , Avloniti Alexandra , Chatzinikolaou Athanasios , Kambas Antonis , Draganidis Dimitris , Papassotiriou Ioannis , Margeli Alexandra , Salakos Nicolaos , Papagianni Maria , Kanaka-Gantenbein Christina , Chrousos George P , Fatouros Ioannis G , Mastorakos George

Background: Oxidative stress and adipocytokines are associated with obesity.Objective and hypotheses: To investigate the association of adipocytokines with markers of pro- and anti-oxidation at baseline and their change and correlations during acute aerobic exercise in normal weight and obese pre- and early-pubertal boys.Method: Fifty healthy pre- and early-pubertal, normal weight and obese boys, underwent a baseline blood sampling...

hrp0094fc4.1 | Diabetes | ESPE2021

Role of physical activity and sedentary behavior on early markers of cardiovascular disease in Canadian adolescents with and without type 1 diabetes: the CARDEA study

Harnois-Leblanc Soren , McNealis Vanessa , Friedrich Matthias G , Hulst AndraeaVan , Nuyt Anne-Monique , Bigras Jean-Luc , Barnett Tracie A. , Benedetti Andrea , Mathieu Marie-Eve , Drapeau Vicky , Sylvestre Marie-Pierre , Henderson Melanie ,

Background: Type 1 diabetes (T1D) is a risk factor for cardiovascular disease (CVD) and alterations may manifest as early as in adolescence. Increased physical activity and reduced sedentary behavior reduce the risk of CVD development in general adult populations, but knowledge is limited on their associations with early markers of CVD risk in pediatric T1D.Objective: Estimate associations of physical activity and sedent...

hrp0094p1-138 | Growth Hormone and IGFs A | ESPE2021

Safety and effectiveness of pediatric growth hormone therapy: Results from the full cohort in KIGS

Maghnie Mohamad , Ranke Michael B , Geffner Mitchell E , Vlachopapadopoulou Elpis , Dorr Helmuth G , Wikland Kerstin Albertsson , Ibanez Lourdes , Carlsson Martin , Cutfield Wayne , Rooman Raoul , Gomez Roy , Wajnrajch Michael P , Linglart Agnes , Stawerska Renata , Polak Michel , Grimberg Adda ,

Objective: KIGS (Pfizer International Growth Survey) was a large, international database of pediatric patients who received recombinant human growth hormone (rhGH) as prescribed in real-world clinical settings. This analysis evaluated the long-term safety and efficacy data from all participants until KIGS close in 2012.Methods: Children with growth disorders and treated with rhGH (Genotropin® [somatropin]...

hrp0095p1-49 | Diabetes and Insulin | ESPE2022

Impact of Metabolic-associated fatty liver disease (MAFLD) on the Cholesterol efflux capacity of High-density lipoproteins in adolescents with type 2 Diabetes

Antonio Orozco-Morales Jose , Torres-Tamayo Margarita , X. Medina-Urrutia Aida , Dies-Suárez Pilar , Méndez-Sánchez Nahum , Enrique Díaz-Orozco Luis , G. Medina-Bravo Patricia

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

hrp0092fc15.1 | Late Breaking Abstracts | ESPE2019

DLG2 Mutations in Patients with Delayed or Absent Puberty

Jee Youn Hee , Won Sehoon , Lui Julian C. , Jennings Melissa , Whalen Philip , Yue Shanna , Cheetham Tim , Boden Matthew G. , Radovick Sally , Quinton Richard , Leschek Ellen W. , Aguilera Greti , Yanovski Jack A. , Seminara Stephanie B. , Roche Katherine W. , Crowley William F. , Delaney Angela , Baron Jeffrey

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

hrp0092p1-103 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Panhipopituitarism with SOX3 Gene Deletion

Cinaz Peyami , Kayhan Gülsüm , Döğer Esra , Uğurlu Aylin Kılınç , Akbaş Emine Demet , Küpçü Zekiye , Perçin Ferda , Bideci Aysun , Çamurdan Orhun

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...