ESPE Abstracts

ESPE Abstracts

Scientific Programme, ePosters & Abstracts

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Previous issue | Volume 89 | ESPE2018 | Next issue

57th Annual ESPE (ESPE 2018)

Poster Presentations

Growth & Syndromes P3

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Growth & Syndromes P2
Table of contents
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Multisystem Endocrine Disorders P1

hrp0089p3-p219 | Growth & Syndromes P3

Is Growth Hormone Deficiency a Contributor to Short Stature in Cutis Laxa Syndrome?

hrp0089p3-p220 | Growth & Syndromes P3

Effect of Sickle Cell Disease on Growth and Puberty

hrp0089p3-p221 | Growth & Syndromes P3

Two Siblings with Alström Syndrome

hrp0089p3-p222 | Growth & Syndromes P3

Development of an Online Learn-pro Module to Support Health Care Professionals Knowledge about Growth and Puberty

hrp0089p3-p223 | Growth & Syndromes P3

Coeliac Disease in Turner Syndrome More Frequent Than Expected

hrp0089p3-p224 | Growth & Syndromes P3

A 14-Year-Old Boy with Simpson-Golabi-Behmel Syndrome – Case Report

hrp0089p3-p225 | Growth & Syndromes P3

Central Precocious Puberty in a Girl with Silver Russell Syndrome

hrp0089p3-p226 | Growth & Syndromes P3

Etiologies of Short Stature in Pedaitric Endocrine Clinic in Northwest Region (Trakya) of Turkey

hrp0089p3-p227 | Growth & Syndromes P3

Auditing Presentation, Investigations and Management of Turner’s Syndrome

hrp0089p3-p228 | Growth & Syndromes P3

Children Born Small for Gestational Age: Catch-up Growth During the First Four Years of Life

hrp0089p3-p229 | Growth & Syndromes P3

A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review

hrp0089p3-p230 | Growth & Syndromes P3

Endocrinological Evaluation of Girls with Turner Syndrome Attending Alexandria University Children’s Hospital

hrp0089p3-p231 | Growth & Syndromes P3

A Long Follow-up in a Young Patient with Atypical Progeroid Syndrome

hrp0089p3-p232 | Growth & Syndromes P3

GH Treatment in Kabuki Syndrome: A Case Report

hrp0089p3-p233 | Growth & Syndromes P3

GH Treatment in Oto-Spondylo-Megaepiphyseal Dysplasia: A Case Report

hrp0089p3-p234 | Growth & Syndromes P3

Hepatic Glycogen Synthasedeficiency Associated with Growth Hormone Deficiency: A Case Report

hrp0089p3-p235 | Growth & Syndromes P3

Analysis of Genetic Mutations in a Chinese Patient Affected with Noonan Syndrome

hrp0089p3-p236 | Growth & Syndromes P3

A Novel Homozygous Mutation in ERCC8 Cause Cockayne Syndrome a in a Chinese Family

hrp0089p3-p237 | Growth & Syndromes P3

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

hrp0089p3-p238 | Growth & Syndromes P3

Hypothyroidism and Growth Hormone (GH) Deficiency, a Spotlight on De Novo Chromosomal 20p11.2 Deletion

hrp0089p3-p239 | Growth & Syndromes P3

Pharmacoeconomic and Adherence Analysis in Growth Hormone According to Galenic Presentation: In Vivo Study vs In Vitro

hrp0089p3-p240 | Growth & Syndromes P3

The Expression of Cytokines in SGA Children Throughout Lactation Allows to Characterize Early the Type of Cath-up

hrp0089p3-p241 | Growth & Syndromes P3

Small Stature: A Singular Difference for Accessing to Job

hrp0089p3-p242 | Growth & Syndromes P3

A Case of Hutchinson-Gilford Progeria Syndrome (HGPS) due to a Pathogenic LMNA Variant c.433G>A (p.Glu145Lys): Growth Hormone Administration Failed to Improve Growth and Long-term Outcome

hrp0089p3-p243 | Growth & Syndromes P3

Increased Serum Activity of Liver Aminotransferases in Young Patients with Turner Syndrome

hrp0089p3-p244 | Growth & Syndromes P3

Terner Syndrome: Epidemiological Study in Uzbekistan

hrp0089p3-p245 | Growth & Syndromes P3

Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data

hrp0089p3-p246 | Growth & Syndromes P3

Microduplication of 3p25.3 and 4p23 Regions in a Patient with Multiple Congenital Anomalies, Congenital Hypothyroidism and Adrenogenital Syndrome

hrp0089p3-p247 | Growth & Syndromes P3

A Rare Chromosomal Disorder, Trisomy 4p

hrp0089p3-p248 | Growth & Syndromes P3

Prediction of Response to Growth Hormone Treatment in Korean Girls with Turner Syndrome

hrp0089p3-p249 | Growth & Syndromes P3

A Rare Case of Turner Syndrome with the Presence of the Y Chromosome Genetic Material

hrp0089p3-p250 | Growth & Syndromes P3

Prader-Willi Patient with Rectal Bleeding – Experience in Center for Rare Endocrine Disordesrs in Varna, Bulagria

hrp0089p3-p251 | Growth & Syndromes P3

Mosaicism 47XXX/45X0, a Case Report

hrp0089p3-p252 | Growth & Syndromes P3

Factors Influencing the Selection of Injection Areas During Self-therapy for Growth Hormone Therapy Among Patients 10–15 Years Old

hrp0089p3-p253 | Growth & Syndromes P3

Tall Stature: A Diagnosis is Sometimes Difficult

hrp0089p3-p254 | Growth & Syndromes P3

Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation

hrp0089p3-p255 | Growth & Syndromes P3

Factors Affecting Height Velocity in Normal Prepubertal Children

hrp0089p3-p256 | Growth & Syndromes P3

Low Dose Growth Hormone using IGF1 Dose Titration is Associated with Sustained Optimal Growth in a Child with Both Turner and Down Syndrome

hrp0089p3-p257 | Growth & Syndromes P3

Growth Response in Noonan Syndrome in Indian Children

hrp0089p3-p258 | Growth & Syndromes P3

Late Referral of Siblings with Combined Pituitary Hormone Deficiency (PROP1)

hrp0089p3-p259 | Growth & Syndromes P3

17p13.1 Microduplication Syndrome in a Child with Familial Short Stature and GH Deficiency: A Short Case Report

hrp0089p3-p260 | Growth & Syndromes P3

Prader Willi Syndrome: Clinical Profile

hrp0089p3-p261 | Growth & Syndromes P3

Leri-Weill Syndrome Phenotype with Atypical Cytogenetic Finding

hrp0089p3-p262 | Growth & Syndromes P3

Deletion of 12q12 Increases the Risk of Growth Retardation and Intellectual Disability

hrp0089p3-p263 | Growth & Syndromes P3

A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia

hrp0089p3-p264 | Growth & Syndromes P3

Congenital Tufting Enteropathy Caused by Mutation of EPCAM Gene: A Case Report and Review of Literature

hrp0089p3-p401 | Growth & Syndromes P3

Is Using a Specific Growth Charts a Chance to be More Precise in Evaluation the Growth of the Children and Adolescence with Down Syndrome? Comparison of the Down’s Syndrome Growth Charts with the Growth Charts for Polish Population

hrp0089p3-p406 | Growth & Syndromes P3

Two Siblings with Prader-Willi Syndrome Caused by Microdeletion Derived from the Paternal Grandmother

hrp0089p3-p412 | Growth & Syndromes P3

Novel Mutation of CHD7 in a Chinese Boy with Kallmann Syndrome

hrp0089p3-p413 | Growth & Syndromes P3

Conversion of Hypothyroidism to Hyperthyroidism in Children

hrp0089p3-p415 | Growth & Syndromes P3

Case Report: Novel ACAN Mutation in a SGA Short Stature without Accelerated Skeletal Maturation

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