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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

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...

hrp0084p3-1008 | Growth | ESPE2015

Presenting Characteristics, Auxological, and Aetiologic Evaluation of 364 Patients with GH Deficiency

Ozbek Mehmet Nuri , Baysal Birsen , Tanriverdi Sibel , Deniz Ahmet , Oncel Kahraman , Ocal Murat , Baran Riza Taner , Demirbilek Huseyin

Background: GH deficiency (GHD), can either be isolated (IGHD) or part of multiple pituitary hormone deficiency (MPHD), is a pituitary hormone disorder that manifests with short stature.Objective and hypotheses: To evaluate the presenting characteristics, auxological and etiologic factors of GHD in a large cohort from a single tertiary paediatric endocrine centre.Methods: Hospital files of patients followed with GHD deficiency at D...

hrp0084p3-1009 | Growth | ESPE2015

Nutritional Supplementation, Sleep Patterns and Growth in Short and Lean Prepubertal Children

Machtei Ayelet , Lebenthal Yael , Lazar Liora , Shamir Raanan , Phillip Moshe , Yackobovitch-Gavan Michal

Background: GH secretion is affected by duration and quality of sleep. Studies examining the connection between sleep and linear growth have reported conflicting results. Recently, we reported that nutritional supplementation was effective in promoting growth in children. In the present study, we extended our evaluation of the nutritional supplement to assess the association between nutrition, sleep and growth.Objective and hypotheses: To examine whether...

hrp0084p3-1010 | Growth | ESPE2015

Disease-Specific Growth Charts of Marfan Syndrome in Korea

Kim Sujin , Cho Sungyoon , Sohn Youngbae , Park Sungwon , Jin Dong-Kyu , Huh Rimm , Kim Jinsup , Yang Aram

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

hrp0084p3-1011 | Growth | ESPE2015

Targeted Birth Length and Parental Height Measurement in Babies with Birthweight≤9th Centile; Improved Uptake During Second Study During 1 Calendar Year in a Single Newborn Unit

Sardar Colette Montgomery , Donnelly Sharon , Siddique Jamila , Gault Emma Jane , Kinmond Sheena , Donaldson Malcolm

Background: The contribution of intrauterine growth restriction (IUGR) and parental height (PH) to childhood short stature is difficult to determine in countries, including the UK, where birth length (BL) is not routinely measured, while accurate PH may become unavailable due to separation/divorce. A previous study (2008–2009) examined the feasibility of BL and PH measurement in the lightest 9% of babies born in a single maternity unit. Uptake was disappointing, with part...

hrp0084p3-1012 | Growth | ESPE2015

Case Report of Wolf-Hirschhorn Syndrome by Chromosomal Microarray Analysis: Importance of the Molecular Investigation for the Aetiological Diagnosis of Short Stature

Pinto Renata , Pinto Irene , Minasi Lysa , Cunha Damiana , Ribeiro Cristiano , Silva Claudio , Cruz Aparecido

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

hrp0084p3-1013 | Growth | ESPE2015

Achondroplasia Reference as Background Matrix for Following Children with Extreme Short Stature

Merker Andrea , Hagenas Lars , Hertel Thomas , Neumeyer Lo

Background: There is a shortage of clinically useful growth charts for following growth development in conditions with extreme short stature. At the same time, it is not possible to construct syndrome-specific growth charts for many of these conditions due to low prevalence and perhaps also often a great inter-individual variability of the growth defect within a certain syndrome.Objective and hypotheses: The aim of this project was to evaluate growth pat...

hrp0084p3-1014 | Growth | ESPE2015

Altered Gene-Expression in Human Growth Plate Cartilage Tissue Exposed to Dexamethasone

Cedervall Therese , Zaman Farasat , Savendahl Lars

Background: Synthetic glucocorticoids (GCs) are widely used drugs but their suppression of growth in pediatric patients is a well-known problem. Different mechanisms have been suggested but we still do not know the sensitivity of human growth plate cartilage to GC treatment. Here in this study, we have investigated the direct effects of GC treatment on the expression of crucial genes in the growth plate, such as collagen-2A1, osterix (Osx), and transforming growth factor &#946...

hrp0084p3-1015 | Growth | ESPE2015

Reversible GH Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Sani Ilaria , Bruzzi Patrizia , Albanese Assunta

Background: 12 cases of neurofibromatosis type 1 (NF-1) children with optic pathway glioma (OPG) and GH excess (GHE) are reported to-date. The aetiology of GHE is unknown. We describe two NF-1 girls and OPG with reversible GHE. The diagnosis of GHE was established from auxological data, high IGF1 and lack of GH suppression during an oral glucose tolerance test (OGTT). Our aim is to increase awareness of GHE in NF-1 children with OPG and help its management.<p class="abstex...

hrp0084p3-1016 | Growth | ESPE2015

Autosomal Recessive Omodysplasia: A Rare Cause of Disproportionate Short Stature

Kopacek Cristiane , Beltrao Luciana Amorim , Guimaraes Victoria Bernardes , Trombetta Julia Santana , Lliguin Karen Lizeth Puma , de Souza Vinicius , Haubert Gessica , da Cunha Andre Campos , Zen Paulo Ricardo Gazzola , Rosa Rafael Fabiano Machado

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...

hrp0084p3-1017 | Growth | ESPE2015

The Growth Characteristics of Patients with Noonan Syndrome, and First 2 Years Results of GH Treatment: A Nationwide Multicentre Study

Siklar Zeynep , Berberoglu Merih , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza , Bundak Ruveyde , Aycan Zehra , Erdeve Senay Savas , Cetinkaya Semra , Abali Saygin , Atay Zeynep , Turan Serap , Kara Cengiz , Yilmaz Gulay Can , Akyurek Nesibe , Abaci Ayhan , Sari Erkan , Yesilkaya Ediz , Bolu Semih , Korkmaz Huseyin Anil , Simsek Enver , Catli Gonul , Cayir Atilla , Evliyaglu Olcay , Isguven Sukriye Pinar

Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.Material and methods: Children and a...

hrp0084p3-1018 | Growth | ESPE2015

Vitamin D in Short Children on GH Therapy: Effects of Vitamin D Status and Vitamin D Supplementation on Glucose Homeostasis

Dumitrescu Cristina , Caragheorgheopol Andra , Gherlan Iuliana , Brehar Andreea , Padure Adriana , Olaru Maria , Procopiuc Camelia

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

hrp0084p3-1019 | Growth | ESPE2015

Laron Syndrome Caused by a Large Deletion in GH Receptor Gene

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , Arman Ahmet , Hatun Sukru

Background: Laron syndrome, which is characterised with GH insensitivity, is caused by mutations of GH receptor (GHR). GHR, consisting of nine exons, is located on 5th chromosome. Typical findings of this syndrome are immature facial appearance, prominent forehead and eyes, depressed nasal bridge, low IGF1 and IGFBP3 levels which do not increase with IGF-generation test.Case report: A 4-year and 3-month old boy was admitted because of growth retardation....

hrp0084p3-1020 | Growth | ESPE2015

GH Deficiency and Glucose 1 Transporter Deficiency Syndrome

Patti Giuseppa , Tornese Gianluca , Costa Paola , Faleschini Elena , Ventura Alessandro

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

hrp0084p3-1021 | Growth | ESPE2015

Response to rhGH Treatment in Patients with Transient or Permanent GH Deficiency

Villafuerte Beatriz , Barrio Raquel , Martin-Frias Maria , Alonso Milagros , Oyakawa Yoko , Roldan Belen

Background: GH (rhGH) treatment improves adult height in GH deficient (GHD) patients. However, there are differences in short and long term responses to treatment between children with permanent deficit (PDGH) and those who present a transient deficit (TDGH) when reassessed at final height (FH).Objective and hypotheses: To evaluate the response to rhGH treatment in patients with PDGH or TDGH one year after initiating treatment and at FH when treatment wa...

hrp0084p3-1022 | Growth | ESPE2015

Postnatal Growth and Biochemical Markers of Late Preterm Infants: Prospective Birth Cohort

Yoshida Tomoko , Takahashi Chie , Uchida Noboru , Nakao Kanako , Sugawara Daisuke , Tanaka Yasuko , Tanaka Hiroyuki , Chiba Yuta , Terada Yumiko , Mizutani Kazuko , Naiki Yasuhiro , Horikawa Reiko

Background: Late preterm birth (defined as infants born between 34 and 36 weeks of gestational age) is increasing worldwide. Their postnatal growth has not been fully investigated.Objective and hypotheses: To identify the characteristics of postnatal growth and biochemical markers in late preterm infants.Method: Among 2014 children in the birth cohort study conducted from 2010, 51 children were born late preterm with birth weight a...

hrp0084p3-1023 | Growth | ESPE2015

Alterations of SHOX and Its Enhancers as a Cause of Short Stature: Evolution of Our Cases

Zuber Maria Laura Bertholt , Tomas Cristina Luzuriaga , Heath Karen , Martin Concepcion Freijo , Gonzalez Cristina Naranjo

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

hrp0084p3-1024 | Growth | ESPE2015

Vitamin D Status in Pre-Pubertal Children with Isolated Idiopathic GH Deficiency: Effect of GH Therapy

Hamza Rasha , Hamed Amira , Abdelmohsen Rehab

Background: Some studies suggested a correlation between vitamin D (VD) and the GH-IGF1 but few studies, and with controversial results, have prospectively analysed the vitamin D status in children before and after GH treatment.Objective and hypothesis: To assess VD status in pre-pubertal children with idiopathic GH deficiency (GHD); and to evaluate effect of GHD and GH treatment on VD levels.Methods: 50 pre-pubertal children with ...

hrp0084p3-1025 | Growth | ESPE2015

New Point Mutation in Short Stature Homeobox Gene Leads to Phenotype of Lery-Weill Dyschondrosteosis

Koffeman Eva , Hoorweg-Nijman Gera , van Santen Hanneke , Volker-Touw Nienke

Background: Short stature homeobox (SHOX)-related haploinsufficiency is associated with a wide clinical variability, all characterized by growth failure with or without mesomelia and/or Madelung deformity. In patients, the effect of GH therapy on final height is comparable to the effect that can be obtained in Turner syndrome. The majority of the patients with SHOX-related haploinsufficiency disorder have deletions of varying sizes in SHOX. Point mutations in SHOX account for ...

hrp0084p3-1026 | Growth | ESPE2015

Fasting and Post-Meal Levels of Appetite Regulating Hormones, before and Following GH Treatment, in Children with Idiopathic Short Stature

Yackobovitch-Gavan Michal , Gat-Yablonski Galia , Shtaif Biana , Phillip Moshe , Lazar Liora

Background: Poor appetite is common in children with idiopathic short stature (ISS), and is usually improved with GH therapy.Objective and hypotheses: To investigate the effect of GH therapy on appetite regulating hormones following a standard meal test (SMT) and to examine the association between these changes and growth response, body composition and resting energy expenditure (REE).Method: Nine ISS pre-pubertal children underwen...

hrp0084p3-1027 | Growth | ESPE2015

Impact of Using WHO vs National Growth Charts on the Clinical Performance of a Decision Rule for Growth Monitoring

Scherdel Pauline , Matczak Soraya , Brauner Raja , Salaun Jean-Francois , Martin Chalumeau , Heude Barbara

Background: Since the publication of international growth charts by the World Health Organization (WHO) in 2006, the use of national growth charts for growth monitoring (GM) has been questioned.Objective and hypotheses: To evaluate the potential impact of using WHO vs. national growth charts on the performance of a clinical decision rule for detecting children with one of the target conditions of GM: GH deficiency (GHD).Method: In ...

hrp0084p3-1028 | Growth | ESPE2015

Comparison of the Performance of Algorithms Proposed to Standardize Growth Monitoring

Scherdel Pauline , Matczak Soraya , Brauner Raja , Salaun Jean-Francois , Heude Barbara , Chalumeau Martin

Background: In industrialised countries, the main goal of growth monitoring (GM) of apparently healthy children is the early detection of severe underlying conditions. However, empirical evidence suggests globally poor performances of GM, with important diagnosis delays for priority target conditions and many unnecessary referrals for diagnostic work-up for disease-free children.Objective and hypotheses: To evaluate and to compare the performance for ear...

hrp0084p3-1029 | Growth | ESPE2015

Evaluation of 207 Danish Girls with Constitutional Tall Stature: Diagnostic Characteristics and Effects of Oral Administration of 17-β Oestradiol

Upners Emmie Nicolina , Juul Anders

Background: Tall stature may be associated with psychological distress in some girls, and height reduction by oestrogen therapy has been described, but remains controversial. Possible side effects of ethinyl oestradiol therapy need to be balanced against a possible beneficial effect on adult height. In our centre natural 17-β oestradiol, which has a better safety profile, is used to reduce final height.Objective and hypotheses: To evaluate the pheno...

hrp0084p3-1030 | Growth | ESPE2015

Sitting Height/Height Ratio: An Indicator for Genetic Study of the SHOX Gene in Children with Disharmonic Short Stature – An In-House Analysis

Yeste Diego , Dominguez Mildred , Campos Ariadna , Clemente Maria , Fernandez Paula , Plaja Alberto , Carrascosa Antonio

Background: Gene SHOX haploinsufficiency due to deletions or mutations in heterozygosis causes a wide spectrum of phenotypes ranging from very severe disharmonic short stature (S. Léri-Weil, S. Turner) to very mild forms with the appearance of idiopathic short stature (IST) of difficult clinical recognition. Auxological study directed at evaluating body disproportions such as the sitting height/height (SH/H) ratio in patients with IST has been postulated as usefu...

hrp0084p3-1031 | Growth | ESPE2015

Final Height in Survivors of Childhood Acute Leukaemia

Jung In Ah , Jeon Yeon Jin , Kim Shin Hee , Cho Won Kyoung , Park So Hyun , Cho Kyoung Soon , Jung Min Ho , Suh Byung Kyu , Kim Hyo Jin

Background: Long-term survivors of childhood acute leukaemia can suffer from growth impairment. The purpose of this study was to evaluate longitudinal growth and final height of paediatric patients who were treated with acute leukaemia and factors that can cause growth impairment.Methods: Of 234 patients (133 males and 101 females) who were diagnosed as acute lymphoblastic leukaemia (ALL; n=162) or acute myeloblastic leukaemia (AML; n=7...

hrp0084p3-1032 | Growth | ESPE2015

Impact of Recombinant Human GH on Height in Children with Chronic Kidney Disease

MIteva Polina , Roussinov Dimitar , Stefanova Elissaveta , Shumnalieva Russka

Background: Chronic kidney disease (CDK) is one of the most common indications for treatment with recombinant human GH (rhGH).Objective and hypotheses: The aim of our study was to investigate the effect of rhGH therapy in pediatric patients with different stages of CKD.Method: 49 children (35 boys and 14 girls) aged from 0–18 years (mean age 9.01±4.28) with proven CKD and height retardation were treated with rhGH by a sin...

hrp0084p3-1033 | Growth | ESPE2015

Birth Length and Metabolic Syndrome in Obese Children

Inzaghi Elena , Ferroli Barbara Baldini , Fintini Danilo , Grossi Armando , Fiori Rossana , Spadoni Gianluigi , Scire Giuseppe , Cianfarani Stefano

Background: Low birth weight is associated with cardiometabolic risk in adulthood. To date, there is no evidence of a relationship between birth length and metabolic risk.Objective and hypotheses: To evaluate the relationship between birth size and risk of metabolic syndrome (MetS) in obese children.Method: 41 obese children were studied (23 females/18 males, 13.2±1.26 years). All patients underwent anthropometric, biochemical...

hrp0084p3-1034 | Growth | ESPE2015

Birth Characteristics Influence the Male to Female Diagnostic Prevalence of Idiopathic GH Deficiency

Camacho-Hubner Cecilia , Lindberg Anders , Arnhold Ivo J P , Ranke Michael B

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...

hrp0084p3-1035 | Growth | ESPE2015

Two Cases with Decelerated Linear Growth, Normal GH – IGF1 Axis with an Exceptional Response to GH Therapy

Alyafei Fawzia , Soliman Ashraf

Introduction: Idiopathic short stature (ISS) describes short children with normal GH secretion. There is a lot of controversy about the outcome of treating ISS children with GH. Exceptional fast growth in response to GH therapy in these children enable scientist to delineate the different etiologies behind this broad term of ISSCase report: We are reporting two children aged 5 years and 9 years diagnosed with ISS. They presented with short stature with n...

hrp0084p3-1036 | Growth | ESPE2015

Impact of GH Treatment in Children Final Height and Weight Status

Guelho Daniela , Almiro Maria Miguel , Dantas Rosa , Paiva Isabel , Bastos Margarida , Serra-Caetano Joana , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: GH revolutionised treatment of children with GH deficiency, conditioning an improvement in height outcome but also an increase of lean body mass and reduction of fat mass.Objective and hypotheses: The authors aimed to evaluate the growth and weight response in children with GH deficiency and identify potential factors affecting the outcome of these patients.Method: The growth and weight data of 58 children (33 boys and ...

hrp0084p3-1037 | Growth | ESPE2015

Expanding the Role of Nurses in Improving Patient Care and Clinical Outcomes in Growth Disorders

Casey Angela , Casnellie Lori

Background: Despite having a significant impact on patient care and treatment success, nurses’ roles and responsibilities in growth disorder (GD) treatment varies substantially between countries and should be optimised.Objective and hypotheses: To understand the critical role nurses play in patient clinical outcomes and how they can improve the patient management pathway.Methods: Nurses involved in the care of patients with GD...

hrp0084p3-1038 | Growth | ESPE2015

Short Stature in a Rare 15q Duplication – is hGH Treatment Beneficial?

Manolachie Adina , Rusu Cristina , Braha Elena , Crumpei Iulia , Belceanu Alina , Puiu Mirela , Anton Mihaela , Leustean Letitia , Vulpoi Carmen

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

hrp0084p3-1039 | Growth | ESPE2015

Sotos Syndrome: Why is Better an Early Diagnosis?

Solis Maria Magdalena Hawkins , Gomez Maria Royo , de Alvare Ana Dolores Alcalde , Yebra Julia Yebra , Pose Araceli Garcia , Diaz Alfonso Canete

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

hrp0084p3-1040 | Growth | ESPE2015

Psychomotor Development in Children Born Small for Gestational Age During Early Infancy

Puga Beatriz , Olivan Maria J , Galve Zenaida , Rite Segundo , de Arriba Antonio , Ferrer Marta , Labarta Jose Ignacio , Ferrandez Angel

Background: Neurocognitive retardation is one of the most important consequences that small for gestational age (SGA) children may suffer although conflicting results have been published.Objective and hypotheses: The aim of this study was to study psychomotor development (PD) in children born SGA during the first two years of life in order to identify children at risk as early as possible.Method: 108 cases borh SGA have been studie...

hrp0084p3-1041 | Growth | ESPE2015

Patient with Classic Phenotype of Hypochondroplasia and Deletion of the Gene SHOX

Dominguez Mildred , Amoretti Sonia , Ropero Esther , Campos Ariadna , Clemente Maria , Yeste Diego , Fernandez Paula

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

hrp0084p3-1042 | Growth | ESPE2015

GH Treatment in Survivors of Paediatric Brain Tumors

Darcan Sukran , Ozcan Nurhan , Goksen Damla , Kantar Mehmet , Turhan Tuncer , Cetingul Nazan , Ozen Samim

Background: Survival from brain tumors is increasing in children and these patients will likely have severely GH deficiency.Objective and hypotheses: To evaluate the effect of GH treatment (GHT) in children treated for brain tumor successfully.Method: Thirteen patients who received GHT after brain tumor treatment were evaluated retrospectively. Height SDS, annual growth rate SDS, height gain, and serum IGF1 levels were collected at...

hrp0084p3-1043 | Growth | ESPE2015

GH Deficiency in a Patient with 4p16 Deletion: An Infrequent Association with Wolf–Hirschhorn Syndrome

Polychroni Ioulia , Xatzipsalti Maria , Fryssira Helen , Stamogiannou Lela

Background: Wolf–Hirschhorn syndrome (WHS) is caused by variably-sized deletion of chromosome 4 involving 4p16 whose typical craniofacial features are ‘Greek warrior helmet appearance’ of the nose, microcephaly and prominent grabella. Almost all patients show mental retardation and growth delay.Case presentation: We report on a patient carrying a 4p16 deletion and GH deficiency treated with recombinant human GH (rhGH). The patient is male,...

hrp0084p3-1044 | Growth | ESPE2015

Value of Alkaline Phosphatase Assay in Short Stature Exploration

Naccache Alexandre , Gayet Claire , Wieliczko Marie Claire , Castanet Mireille

Background: Short stature is a common reason for pediatric endocrinologist consultation, but in many cases, no cause can be identified. Childhood hypophosphatasia has widely variable clinical features from short stature to low bone mineral density with skeletal deformities, and the place of serum alkaline phosphatase (ALP) activity assay could be raised as etiological exploration is not consensualObjective and hypotheses: The aim of our study was to eval...

hrp0084p3-1045 | Growth | ESPE2015

Small for Gestational Age Incidence in One of the Regions of the Russian Federation

Petrova Irina , Shtina Marina , Kovalenko Tatiana

Background: Intrauterine growth retardation (small for gestational age (SGA)) is connected with perinatal morbidity, neurological pathology and stature.Objective and hypotheses: The aim of our study is to estimate the incidence of SGA and its consequences in newborns and infants at the age 1.Method: The incidence of SGA among newborns in the Udmurt Republic (the region of the European part of the Russian Federation) has been studie...

hrp0084p3-1046 | Growth | ESPE2015

Final Height in Patients with and without Pituitary Abnormalities Detected by MRI and/or CT Treated with GH

Schmitt-Lobe Maria Claudia , Webster Paula , Webster Roberta

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...

hrp0084p3-1047 | Growth | ESPE2015

Congenital Heart Disease and its Effects on Growth in Children

Puiu Ileana , Maria Veronica Elena , Puiu Alexandra Oltea

Background: Children with congenital heart disease (CHD) are predisposed to growth failure, due to the decreased intake of nutrients and also due to the increased energy requirements. Growth failure represents a frequent cause of increase of both morbidity and mortality in children with CHD.Objective and hypotheses: Assessment of physical development in children with CHD and identification of significant factors that influence z scores.<p class="abst...

hrp0084p3-1048 | Growth | ESPE2015

A Rare Cause of Short Stature: the Floating Harbor Syndrome

Kayemba-Kay's Simon , Maillet Odile , Heron Anne

Background: Short stature has several causes ranging from complex hormonal deficiencies mostly related to pituitary gland genetics, to idiopathic and environmental causes such as maternal smoking in pregnancy, etc. Floating harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, retarded speech development, and typical facial dysmorphic features. The syndrome is caused by heterozygous mutations in exon 3...

hrp0084p3-1049 | Growth | ESPE2015

Correlations Between IGF1 Levels and Anthropometrical Parameters in Children Under GH Therapy

Hutu Simona , Pop Raluca , Pascanu Ionela

Background: GH therapy is used to treat a series of growth disorders in childhood. No recent studies are available in our country regarding the influence of GH after more than 1 year of treatment in children with growth failure.Objective and hypotheses: The aim of our study is to evaluate the effects of GH treatment and to find out if there is any relationship between IGF1 increment and growth velocity (GV), weight, and BMI in children with growth failur...

hrp0084p3-1050 | Growth | ESPE2015

BMI and Total Cholesterol are Negative Predictors of Peak Stimulated GH in Han Children with Short Stature

Wu Su , Gu Wei , Zhu Ziyang , Ni Shining , Shi Xing , Liu Qianqi

Background: BMI has a negative impact on spontaneous and stimulated GH secretion in children, but the impact of BMI and free fatty acids (FFA) on peak stimulated GH values in Han children with short stature is unknown.Objective and hypotheses: To assess the effects of BMI and FFA on peak GH values in Han children with short stature.Method: This was a retrospective, cross-sectional study. We used arginine–clonidine test to anal...

hrp0084p3-1051 | Growth | ESPE2015

A 4-Month-Old Boy with Beckwith Wiedemann Syndrome

Janchevska Aleksandra , Tasic Velibor , Gucev Zoran , Bachmann Nadine , Bergmann Carsten

Background: Beckwith Wiedemann syndrome (BWS) is an overgrowth disorder with vari-able phenotype (hemihypertrophy, macroglossia, visceromegaly, malformations, and hypo-glycaemia in 30–50%) and predisposition for tumors, during the second part of pregnancy and first few years of life.Objective and hypotheses: Molecular characterisation of a patient with BWS was perfor-med to ensure adequate clinical management. This analysis revealed the most common ...

hrp0084p3-1052 | Growth | ESPE2015

MEGHA: Observational Study on Prescription of the GH Saizen in Adults in France

Cortet Christine , Pugeat Michel , Fresneau Laurence , Sadoul Jean-Louis , Young Jacques , Souberbielle Jean-Claude , Chanson Philippe

Background: Final results from MEGHA study required by Health French Authorities (HAS).Objective and hypotheses: Objectives are to carry out longitudinal follow-up during maximum 5 years of AGHD patients treated with Saizen, with a description of prescription modalities, demographic and clinical characteristics, patient compliance, product safety, and quality of life.Method: MEGHA is a multicentric study, with prospective follow-up...

hrp0084p3-1053 | Growth | ESPE2015

Comparative Study of Low-Dose GH Treatment in Children with Idiopathic Short Stature and GH Deficiency

Jeong Hwalrim , Kwon Eunbyul , Lee Haesang , Hwang Jinsoon , Lim Jungsub , Shim Youngseok

Background: Idiopathic short stature (ISS) is defined as short stature of unknown origin. It is apparently not associated with GH deficiency (GHD). High-dose GH treatment is considered to be more beneficial in children with ISS than in those with GHD. However, responses to GH in children with ISS are highly variable and dose-dependent, and the optimal treatment is controversial.Aims: To compare the effects of low-dose GH treatment in children with GHD vs...

hrp0084p3-1054 | Growth | ESPE2015

To Investigate the Changes of Hormone Levels and Body Composition in Pubertal Children with Growth Retardation: a Clinical Controlled Study

Wu Su , Liu Qian-qi , Gu Wei , Zhu Zi-yang , Shi Xing , Ni Shi-ning

Background: Adolescent growth spurt is the fast and intense increase in the rate of growth in height and weight that occurs during the adolescent stage of the human life cycle.Objective and hypotheses: To investigate the changes of hormone levels and body composition in pubertal children with growth retardation.Method: A non-randomised clinical controlled study was conducted in 208 cases (males 122, 10–14 years and females 86,...

hrp0084p3-1055 | Growth | ESPE2015

The Effect of BMI in Reducing Risk of Refractory Seizure due to Probable Lipoid Tissue Factors

Dalili Setila , Aminzadeh Vahid , Koohmanaee Shahin , Ashoorian Yalda , Rad Afagh Hassanzadeh

Background: Refractory epilepsy (RE) is a neurological disease, which affect relatively 20–30% of epileptic patients. Although, previous studies noted obesity as the leading factor for maladaptive processes for exacerbating chronic diseases such as epilepsy, multiple sclerosis and Alzheimer’s disease. On the other hand, enough endocrine products such as leptin by adipose tissue is effective in epilepsy. We aim to assess the effect of BMI in reducing risk of refractor...

hrp0084p3-1056 | Growth | ESPE2015

GH Treatment for Idiopathic Short Stature

Markosyan Renata

Background: The purpose of this study was to analyse characteristics and evaluate the effectiveness and safety of treatment with recombinant GH (rGH) in children with idiopathic short stature (ISS).Method: Patients (n=54) were evaluated prospectively. Treatment was received by 27 patients with ISS during 1 year. The administration was done by the accepted methodology. The effectiveness of treatment was evaluated based on change in growing speed,...

hrp0084p3-1057 | Growth | ESPE2015

The Frequency Study and the Aetiological Profile of Short Stature in 2–15 Years Old Children Admitted in Endocrinology Clinic of 17 Shahrivar Hospital, Rasht, Between 2008 and 2013

Koohmanaee Shahin , Dalili Setila , Majdi Romisa

Background: Short stature is a common problem in children. This study aimed to determine the cause of short stature in children in Rasht is 2–15 years.Methods: This study was done on 148 children aged 2–15 years with short stature in 2008–2011 shorter 17 Shahrivar patients have been conducted. Demographic characteristics of children, child, and family history of the disease, blood tests, hormone stimulation test growth, physical examinatio...