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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

hrp0086lbp1 | (1) | ESPE2016

46,XY DSD due to Isolated AMH Deficiency Resulting in Persistent Müllerian Duct Syndrome (PMDS) as a Consequence of a Single-Base Deletion in a SF1-Response Element of the AMH promoter

Valeri Clara , di Clemente Nathalie , Marshall Ian , Schteingart Helena , Josso Nathalie , Rey Rodolfo , Picard Jean-Yves

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

hrp0086lbp2 | (1) | ESPE2016

Sexual Outcomes in Brazilian Patients with 46,XY DSD

Batista Rafael Loch , Inacio Marlene , Cunha Flavia Siqueira , Gomes Nathalia Lisboa , Brito Vinicius Nahime , Costa Elaine Frade , Domenico Sorahia , de Mendonca Berenice Bilharinho

Background: Outcomes related to sexual life are poorly explored in 46,XY DSD patients and most studies focus only in 46,XX DSD (CAH). In 46,XY DSD the observations of sexual outcomes are scares, but they overall indicate that the SexQoL is impaired, particularly regarding sexual function and sexual satisfaction.Objective and hypotheses: To evaluate sexual outcomes in a cohort of patients with 46,XY in adulthood and compare these observations with the res...

hrp0086lbp3 | (1) | ESPE2016

The Growth Hormone – Insulin Like Growth Factor I (IGF-1) System in Early Non-Alcoholic Fatty Liver Disease: From an Animal Model to a Children’s Cohort

de Giorgis Tommaso , Penke Melanie , Schuster Susanne , Grafe Nico , Kiel Alexander , Karlas Thomas , Weigand Johannes , Vogel Mandy , Garten Antje , Antje Korner , Kiess Wieland

Background: Non-alcoholic fatty liver disease (NAFLD) represents one of the most common obesity complications and can progress to non-alcoholic stetohepatitis (NASH). NASH is associated with lower insulin like growth factor I (IGF-1) and IGFBP-3, however no data are available regarding the growth hormone (GH)-IGF-I axis in early stage of NAFLD, characterised by hepatic steatosis.Objective and hypotheses: We aimed to investigate the GH-IGF-1 pathway in a ...

hrp0086lbp4 | (1) | ESPE2016

Sirolimus Precipitating Diabetes in a Patient with Congenital Hyperinsulinism due to Autosomal Dominant ABCC8 Mutation

Dastamani Antonia , Guemes Maria , Shah Pratik , Hussain Khalid

Background: Studies have suggested that sirolimus might be diabetogenic, mostly in kidney transplant recipients. Sirolimus has now been shown to be effective in the management of patients with congenital hyperinsulinism (CHI). However to date, there are no publications regarding the diabetogenic effect of Sirolimus in CHI patients.Objective and hypotheses: To report the first case of sirolimus precipitating diabetes in a CHI patient with known genetic mu...

hrp0086lbp5 | (1) | ESPE2016

Development of Skeletal Microarchitecture and Biomechanics Over 2 Years Following 6 Month Intragastric Balloon Insertion in Obese Adolescents

Sachdev Pooja , Reece Lindsey , Copeland Rob , Thomson Mike , Wales Jerry , Jacques Richard , Dimitri Paul , Wright Neil

Background: A reduction in bone mass in adults and adolescents has been observed following Roux-en-Y bypass surgery with an increase in fracture risk reported in adults. However, the intragastric balloon (IGB) is a less invasive bariatric procedure.Objective and hypotheses: Given obese adolescents are at greater risk of fracture we studied the impact of a 6 month IGB insertion on skeletal mass, geometry and strength over 2 years.Me...

hrp0086lbp6 | (1) | ESPE2016

Children with Brain Tumors have Enhanced Visceral Adiposity Compared to Non-Cancer Controls: A Preliminary Analysis from the Canadian Study of Determinants of Endometabolic Health in Children Study

Wang Kuan-Wen , Fleming Adam , Burrow Sarah , de Souza Russell J. , Thabane Lehana , Samaan M. Constantine

Background: Survivors of childhood brain tumors (SCBT) are an emerging group that have premature mortality and morbidities that can negatively impact their quality of life and lifespan. Cardiovascular disease, obesity and diabetes are important causes of premature mortality in survivors, yet one of the major determinants of cardiometabolic risk i.e. visceral adiposity has not been determined in this group.Objective and hypotheses: This study is comparing...

hrp0086lbp7 | (1) | ESPE2016

Loss of Functional Osteoprotegerin: More than a Skeletal Problem

Grasemann Corinna , Unger Nicole , Hovel Matthias , Arweiler-Harbeck Diana , Lausch Ekkehart , Meissner Thomas , Hauffa Berthold P. , Shaw Nick

Background: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional osteoprotegerin (OPG) is caused by recessive mutations in TNFRSF11B. A genotype-phenotype correlation spanning from mild to very severe forms is described.Objective and hypotheses: To describe the complexity of the human phenotype of OPG deficiency in more detail and to investigate heterozygous mutation carrie...

hrp0086lbp8 | (1) | ESPE2016

Impact of Weight Loss after Bariatric Surgery on Gonadic Function in Severely Obese Female Adolescents

Gottrand Madeleine , Aubry Estelle , Aumar Aurelien , Caiazzo Robert , Cartigny Maryse , Pigeyre Marie , Pattou Francois , Gueorguieva Iva

Background and objectives: To study short-term effects of consequent weight loss on ovarian function and its correlation with morphometric and metabolic changes at 1 and 2 years after a laparoscopic adjustable gastric banding (LAGB) placement in severely obese adolescents.Subjects and methods: Our retrospective and observational study was conducted between July 2015 and January 2016 in a single center. Menstruations, anthropology and biological data were...

hrp0086lbp9 | (1) | ESPE2016

Osteoprotegerin and Insulin Resistance in Childhood Obesity: A New Interplay?

Kotanidou Eleni , Kyrgios Ioannis , Karalazou Paraskevi , Maggana Ioanna , Tzimagiorgis Georgios , Galli-Tsinopoulou Assimina

Background: A positive association between osteoprotegerin (OPG) levels and cardiovascular morbidity and mortality has been recently reported. Additionally, there is evidence that OPG in obese adults participates in the pathogenesis of atherosclerosis and cardiovascular diseases by promoting inflammation, which is known to be linked to insulin resistance (IR). There is few data regarding the relationship among obesity-IR-OPG, in youth.Objective and hypot...

hrp0086lbp10 | (1) | ESPE2016

Molecular Analysis of AR, SRD5A2, NR5A1 and HSD17B3 Genes in a Brazilian 46,XY DSD Cohort

Petroli Reginaldo Jose , Lessa Victor Jose Correia , Vieira Larissa Clara , de Calais Flavia Leme , Fabbri Helena Campos , Henriques Taciane Barbosa , dos Santos Cruz Piveta Cristiane , do Nascimento Diogo Lucas Lima , de Mello Maricilda Palandi , Monlleo Isabella Lopes

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

hrp0086lbp11 | (1) | ESPE2016

Long-Term Safety and Effectiveness of Growth Hormone Treatment in Pediatric Patients with Growth Hormone Deficiency: Interim Results of LG Growth Study

Chung Sochung , Hwang Il Tae , Rhie Young Jun , Kim Jae Hyun , Chae Hyun-Wook , Choi Jin Ho , Yoo Jae-ho , Shin Choong Ho

Background: Over 4 years, 1,526 patients received Eutropin® and EutropinPlus® (recombinant human growth hormone (GH), LG Life Sciences, Ltd.) while enrolled in the LG Growth Study (LGS), designed to monitor the long-term effectiveness and safety of GH. We present LGS experience for GH treatment during 4 years in growth hormone deficiency (GHD)Objective and hypotheses: To evaluate the long-term safety and efficacy of Eutrop...

hrp0086lbp12 | (1) | ESPE2016

An Analysis of Symptoms and Signs of Adrenal Insufficiency in Children with CAH Admitted to Hospital in Australia

Chrisp Georgina , Maguire Ann , Quartararo Maria , Falhammar Henrik , Hameed Shihab , King Bruce , Munns Craig , Torpy David , Rushworth R. Louise

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...

hrp0086lbp13 | (1) | ESPE2016

Hyperprolactinemia in Children and Adolescents: A Review of Patients Presenting to a Tertiary Center in Australia

Vora Komal , Ambler Geoffrey , Maguire Ann

Background: Hyperprolactinemia can be physiological or due to a pharmacological/pathological cause. It is relatively rare in childhood and poorly described in the literature.Objective and hypotheses: The aim of this study was to retrospectively evaluate the etiology, clinical findings and management of hyperprolactinemia in children.Method: We reviewed the records of 91 children with hyperprolactinemia (Prolactin level >760 mU/...