ESPE Abstracts

ESPE Abstracts

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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Late Breaking P1

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Thyroid P3
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hrp0089lb-p1 | Late Breaking P1 | ESPE2018

A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure

Cottrell Emily , Maharaj Avinaash , Chatterjee Sumana , Grandone Anna , Cirillo Grazia , del Giudice Emanuele Miraglia , Metherell Louise A , Storr Helen L

Background: Growth Hormone Insensitivity (GHI) is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature associated with high GH and low IGF-I levels and often have midfacial hypoplasia (typical Laron syndrome facial features). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). The inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of...
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hrp0089lb-p2 | Late Breaking P1 | ESPE2018

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hrp0089lb-p3 | Late Breaking P1 | ESPE2018

Glycemic Impact of Long Term Use of Diazoxide Choline Controlled-Release Tablets in Patients with Prader-Willi Syndrome or with Very High Triglycerides

Kimonis Virginia , Gold JA , Charlton RW , Cowen Neil , Miller JL

DCCR is a once daily tablet formulation of the choline salt of diazoxide, a KATP channel agonist. DCCR is being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS), the most common genetic cause of life-threatening obesity. In a phase 2 study, DCCR treatment resulted in significant reductions of hyperphagia and aggressive behaviors. Diazoxide increases glucose by decreasing beta-cell insulin secretion in hyperinsulinemic conditions. However, ot...
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hrp0089lb-p4 | Late Breaking P1 | ESPE2018

An Updated Evolutionary Study in Glucocorticoid Receptors; Insights from a Comprehensive Phylogenetic, SNP’s and Mutation’s Analysis of the Nuclear Receptors Family: An Updated Evolutionary Study in Glucocorticoid Receptors; Insights from a Comprehensive Phylogenetic, SNP’s and Mutation’s Analysis of the Nuclear Receptors Family

Papageorgiou Louis , Papakonstantinou Eleni , Salis Constantinos , Raftopoulou Sofia , Mitsis Thanasis , Nicolaides Nicolas , Hagidimitriou Marianna , Eliopoulos Elias , Charmandari Evangelia , Chrousos George , Vlachakis Dimitrios

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...
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hrp0089lb-p5 | Late Breaking P1 | ESPE2018

Association between the Use of Antenatal Steroids for Lung Maturation and Hypoglycemia in Newborns Between 26 and 34 6/7 Weeks of Gestation

Valencia Gina Marcela Gonzalez , Castaneda Jessica Lorena Gonzalez , Avendano Maria Camila Velandia , Cadena Fabio Camilo Suarez , Fontecha Eliana Rocio Arango , Diaz Andres Felipe Ochoa , Rojas Victor Clemente Medonza

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...
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hrp0089lb-p6 | Late Breaking P1 | ESPE2018

Sex Hormone Levels in Young Children: a Pilot Study of the Japan Environment and Children’s Study

Ayabe Tadayuki , Fukami Maki , Yamamoto-Hanada Kiwako , Ishitsuka Kazue , Mezawa Hidetoshi , Konishi Mizuho , Saito Mayako , Sasaki Hatoko , Satoh Miori , Nishizato Minaho , Michikawa Takehiro , Yamazaki Shin , Monden Yukifumi , Mise Nathan , Kayama Fujio , Shimono Masayuki , Kusuhara Koichi , Kawamoto Toshihiro , Sanefuji Masafumi , Kato Kiyoko , Oda Masako , Mitsubuchi Hiroshi , Katoh Takahiko , Saito Hirohisa , Ohya Yukihiro

Background: Information on sex hormone levels in young children is currently lacking, because those levels are generally below the lower limit of quantitation of conventional immunoassay methods. We investigated sex differences in serum levels of sex hormones in relation to upstream hormones and other background factors in young children, using liquid chromatography-tandem mass spectrometry (LC-MS/MS).Methods: This cross-sectional study enrolled 151 chil...
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hrp0089lb-p7 | Late Breaking P1 | ESPE2018

Mutational Analysis of SRD5A2 and AR Genes in Indian Children with 46 XY Disorders of Sex Development

Kumar Anil , Faruq Mohd , Werner Ralf , Sharma Rajni , Jain Vandana

Aim: To study the mutation spectrum in SRD5A2 and AR genes among Indian children with 46 XY disorders of sex development (DSD).Methods: This work is part of an ongoing study at Department of Pediatrics, AIIMS, Delhi, approved by the ethics committee of the Institute. Children with 46 XY DSD in whom endocrine investigations were suggestive of either 5α reductase deficiency or androgen insensitivity syndrome were enrolled for mutatio...
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hrp0089lb-p8 | Late Breaking P1 | ESPE2018

Pharmacokinetics of Diazoxide Choline Controlled-Release Tablets, a Once Daily Treatment Being Evaluation in Patients with Prader Willi Syndrome

Salehi Parisa , Charlton RW , Cowen Neil

Diazoxide Choline Controlled Release Tablet (DCCR) is under development for the treatment of Prader-Willi syndrome (PWS). The objective of this research was to characterize single dose and steady state pharmacokinetics, dose linearity and food effects of DCCR across five clinical studies. Single dose pharmacokinetics of DCCR were compared to diazoxide oral suspension (Proglycem®) in a study in obese subjects (PK001). Steady state pharmacokinetics were evaluated...
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hrp0089lb-p9 | Late Breaking P1 | ESPE2018

Two Siblings with Autosomal Recessive Syndromic Hypopituitarism Caused By Mutations in TBC1D32

Hietamaki Johanna , Iivonen Anna-Pauliina , Kansakoski Johanna , Miettinen Paivi J. , Liu Xiaonan , Vaaralahti Kirsi , Hero Matti , Varjosalo Markku , Raivio Taneli

Patients who suffer from congenital hypopituitarism display a wide spectrum of phenotypes including pituitary hormone deficiencies and, in some cases, additional extrapituitary manifestations depending on the causative gene. A group of genes underlying hypopituitarism has been identified, yet several of them remain unknown. Here, we identified compound heterozygous variants in the TBC1D32 gene, c.1165_1166dupGT, p.(Gln390Phefs*32) and c.2151delA, p.(Lys717Asnfs*29) in...
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hrp0089lb-p10 | Late Breaking P1 | ESPE2018

The Influence of Oil-Soluble Iodinated Contrast Medium (Lipiodol) on Child’s Thyroid Function in Mice

Hongyo Tadashi , Namise Masahiro , Sawai Yukimitsu , Ishibashi Io , Kuchino Hirofumi , Seki Itsuki , Hirose Shota , Yamamura Kentaro , Ueda Yasuyuki

Introduction: Hysterosalpingography using oil-soluble iodinated contrast medium (ethiodized oil; Lipiodol) is a common examination for patients with infertility. Lipiodol remains in the body long after the examination, and there are some reports suggesting that Lipiodol induces thyroid dysfunction not only to the mother but also the fetus and the newborn. However, since there are no known mouse models of Lipiodol-induced thyroid dysfunction, we examined the influence of Lipiod...
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hrp0089lb-p11 | Late Breaking P1 | ESPE2018

Metabolic Profile in Survivors of Pediatric Hematopoietic Stem Cells Transplantation after Chemotherapy-Only Conditioning

Cima Luminita-Nicoleta , Nedelea Lavinia , Zaharia Cristina , Colita Anca , Barbu Carmen Gabriela , Fica Simona

Background: Metabolic syndrome (MS) is a long-term complication of pediatric haematopoietic stem cell transplantation (HSCT) and it was described more often in patients who were exposed to total body irradiation (TBI). Since previous studies reported discrepancy in the presence of metabolic complications in HSCT survivors who underwent chemotherapy-only conditioning, we investigated the frequency of MS in our HSCT-treated children for various disorders without being exposed to...
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hrp0089lb-p12 | Late Breaking P1 | ESPE2018

Disrupting the Norm: The Experience of Young People with DSD

Steers Denise , Andrews Georgia , Collings Sunny , Ballantyne Angela , Stubbe Maria , Wiltshire Esko

The experiences of older adults with Variations in Sex Characteristics (VSC or Differences/Disorders in Sex Development/DSD) are well documented. However there has been a gap in the literature with respect to representing the voices of younger people. This qualitative research study has been conducted in collaboration with Intersex Trust Aotearoa New Zealand. Ten young people with VSC were recruited via health professionals, intersex advocates, support groups and social media ...
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hrp0089lb-p13 | Late Breaking P1 | ESPE2018

Clinical and Endocrine Characteristics and Genetic Analysis of Korean Children with McCune–Albright Syndrome

Cho Eun-Kyung , Im Minji , Kim Jinsup , Yang Aram , Song Ari , Ki Chang-Seok , Lee Ji-Eun , Cho Sung Yoon , Jin Dong-Kyu

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...
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hrp0089lb-p14 | Late Breaking P1 | ESPE2018

Beta-cell Function in Chinese Youngsters with Type 1 Diabetes and Assessment of Surrogate Markers of Severe Insulin Deficiency

Yuan Jinna , Derraik Jose G B , Fu Junfen , Dong Guanping , Cutfield Wayne S , Wu Wei , Huang Ke , Jiang Youjun , Chen Xiaochun

Objective: We assessed whether beta-cell function progressively decreases over time with greater type 1 diabetes mellitus (T1DM) duration using a mixed-meal tolerance test (MMTT). We also assessed simpler and more practical surrogate parameters for clinical use.Methods: We studied 57 children and adolescents with T1DM in Hangzhou (China), mean age at diagnosis was 8.3 years (range 2.3 to 15.3 years), with an average diabetes duration of 2.5 years (range ...
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hrp0089lb-p15 | Late Breaking P1 | ESPE2018

A Novel Compound Heterozygous Mutation of the CYP17A1 Gene is Associated with Rhabdomyolysis: Demonstration of Combining 17α-hydroxylase/17,20-Lyase Deficiency

Chen Hong , Wang Chunlin , Liang Li , Yan Qingfeng

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...
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hrp0089lb-p16 | Late Breaking P1 | ESPE2018

Successful Treatment of Alopecia Totalis with Calcitriol and Paricalcitol in Two Girls Aged 3 and 7-Years

Papadimitriou Dimitrios T , Bothou Christina , Dermitzaki Eleni , Kleanthous Kleanthis , Karkavitsas Konstantinos , Mastorakos George , Papadimitriou Anastasios

Backgound: Alopecia areata (AA) or Alopecia Totalis (AT) is an autoimmune disease directed at the hair follicle, either limited to patchy hair loss over the scalp (focalis), or as total loss of scalp hair (totalis) or as total loss of both scalp and body hair (universalis). Management can be challenging, and despite multiple treatment modalities, no therapy still stands. While localized AA may respond well to topical corticosteroids, many patients require more aggressive secon...
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hrp0089lb-p17 | Late Breaking P1 | ESPE2018

Protein-Induced Hypoglycemia Secondary to Hyperinsulinism-Hyperammonemia (HI/HA) Syndrome: A GLUD1 Gene Mutation

D'Ambrosio Fabiola , Buchanan Ashley , Chan Jacquelin , Mantis Stelios

Introduction: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...
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hrp0089lb-p18 | Late Breaking P1 | ESPE2018

The Efficacy of GnRHa alone or in Combination with rhGH for the Treatment of Idiopathic Central Precocious Puberty or Early and Fast Puberty in Chinese Girls

Zhang Jianwei , Fu Junfen

Object: To assess the efficacy and impact factors of treatment with GnRHa alone or in combination with rhGH in idiopathic central precocious puberty (CPP) or early and fast puberty (EFP) in Chinese girls.Methods: We conducted a retrospective analysis on 20 years of data obtained from 11 medical centers from January 1998 to March 2017, and 393 girls with CPP (n=302) or EFP (n=91), who untreated or received GnRHa alone or in Combination w...
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hrp0089lb-p19 | Late Breaking P1 | ESPE2018

Characterization and Clinical Course of Prolactinoma in Korean Adolescents

Yang Aram , Im Minji , Song Ari , Kim Jinsup , Shin Hyung-Jin , Park Hwan-Hee , Cho Sung Yoon , Jin Dong-Kyu

Prolactinoma is most common functioning pituitary adenoma(50%). However, there have been limited studies for prolactinoma in adolescents. Pituitary adenomas are uncommon in childhood and adolescence (<3% of childhood supratentorial tumors, 3–6% of all surgically treated adenomas). The aim of this study is to assess the characteristics of Korean adolescents with prolactinoma and their clinical course. This study is retrospective cohort study. Patients diagnosed with pr...
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hrp0089lb-p20 | Late Breaking P1 | ESPE2018

The Efficacy and Safety of Octreotide Treatment for Diazoxide-Unresponsive Congenital Hyperinsulinism in China

Cao Bingyan , Gong Chunxiu , Wu Di , Liang Xuejun , Su Chang , Liu Min , Liu Wenjing , Chen Jiajia , Li Xiaoqiao

Backgrounds: The treatment of diazoxide-unresponsive congenital hyperinsulinism (CHI) is a big challenge in clinical practice. Octreotide is an off-lable medicine for CHI but widely used nowadays. However, the efficacy and adverse effects have been reported varied in centers.Objective: To evaluate the efficacy and safety of the subcutaneous octreotide injection for diazoxide-unresponsive CHI in China.Subjects and methods: Diazoxide...
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