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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

Growth & Syndromes P2

hrp0089p2-p239 | Growth & Syndromes P2 | ESPE2018

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Kardelen Aslı Derya , Darendeliler Feyza , Gencay Genco , İnce Zuhal , Aliyev Behruz , Ozturan Esin Karakılıc , Abalı Zehra Yavaş , Poyrazoğlu Şukran , Nişli Kemal , Baş Firdevs

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

hrp0089p2-p240 | Growth & Syndromes P2 | ESPE2018

The Validation of an Automated Bone Age Assessment in Girls with Turner Syndrome – A Pilot Study

Soucek Ondrej , Lebl Jan , Maratova Klara , Zemkova Dana , Sumnik Zdenek

Background: Bone age evaluation is a basic tool to manage the treatment of girls with Turner syndrome (TS). The current standard of care is to involve an experienced medical staff to use the Tanner Whitehouse 3 (TW3) or Greulich-Pyle (GP) method for manual evaluation of the bone age. As this is time consuming and may be partially influenced by the evaluator’s skills, automated systems may prove more efficient.Objective and hypothesis: The aim of thi...

hrp0089p2-p241 | Growth & Syndromes P2 | ESPE2018

Turner Syndrome and Autoimmune Thyroid Disease: Pecularities of Evolution in 93 Turner Syndrome Patients

Dumitrescu Cristina , Gherlan Iuliana , Radomir Lidia , Vintila Madalina , Brehar Andreea , Caragheorgheopol Andra , Purice Mariana , Procopiuc Camelia

Turner Syndrome (TS) is a relatively common chromosomopathy and according to epidemiological studies the prevalence of Autoimmune thyroiditis (AIT) in TS fluctuates from 10% to 21% versus 1.3% in the general population.Objective: – to retrospectively evaluate thyroid autoimmune disorders and thyroid function in a group of 93 TS patients.– to compare the prevalence of AIT and thyroid dysfunction in subgroups of TS accordin...

hrp0089p2-p242 | Growth & Syndromes P2 | ESPE2018

Unusual Clinical Manifestations in Turner Syndrome

Akulevich Natallia , Makarava Yulia , Ershova Larissa , Kunavitch Irina

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...

hrp0089p2-p243 | Growth & Syndromes P2 | ESPE2018

Effect of Combined GH and Estrogen Treatment on the Lipid Profile and Systolic Function of the Left Ventricle in Girls with Turner Syndrome (TS)

Shiryaeva Tatiana , Nagaeva Elena , Pankratova Maria , Chikulaeva Olga , Volevodz Natalia , Peterkova Valentina

Background: The risk of cardiovascular diseases is increased in girls with TS. The influence by combined GH and estrogen treatment on a condition of cardiovascular system is actively discussed.Objective and hypotheses: We performed this study to assess th effects of combined GH and estrogen treatment on lipid metabolism and systolic function of the left ventricle (LV) in girls with Turner syndrome without clinically relevant cardiac abnormalities.<p ...

hrp0089p2-p244 | Growth &amp; Syndromes P2 | ESPE2018

Familial Turner Syndrome: Case Report

Dacal Jimena Lopez , Villanueva Mercedes , Enacan Rosa , Brunetto Oscar , Figueroa Veronica

Introduction: Turner syndrome (TS) is one of the most common chromosomic disorders characterized by partial or complete lack of one of X chromosomes. It presents variable phenotypic spectrum. Isochromosome of long arm (iXq10) is the third most frequent karyotype and could be in mosaicism in 10-15% of TS. The phenotypic manifestation are similar than girls 45X. It is described a higher incidence of thyroid autoimmunity (even though is currently under discussion) and of diabetes...

hrp0089p2-p245 | Growth &amp; Syndromes P2 | ESPE2018

Clinical Review of Seven Patients Affected with 49,XXXXY Syndrome

Sanchez Jacobo Perez , Collado Raquel Corripio , Escofet Concepcion , Brun Carme , Gabau Elisabeth

Introduction: 49,XXXXY polysomy incidence is about 1 per 85000 to 100000 male births. As a rare condition with medical problems affecting different systems it should be evaluated under a multidisciplinary approach. We have reviewed the clinical characteristics of patients with this anomaly from all the country who contacted the program for evaluation.Methods: In 2016 we started a multidisciplinary program for the care of patients with sex chromosomal ane...

hrp0089p2-p246 | Growth &amp; Syndromes P2 | ESPE2018

Poor Weight Gain in Prader-Willi Syndrome – Not Always Over-restriction Consider Coeliac Disease

Lateva M , Kassim A , Meade C , Maher R , McCrann A , Roche E

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

hrp0089p2-p247 | Growth &amp; Syndromes P2 | ESPE2018

GH Unmasked Laryngomalacia and worsened Obstructive Sleep Apnea in Infants with Prader-Willi Syndrome

Salehi Parisa , Wrede Joanna E , Johnson Kaalan E , Chen Maida L

Background: Prader-Willi Syndrome (PWS), due to loss of paternal gene expression on chromosome 15q11.2-13, is characterized by hypotonia, hypothalamic-pituitary dysregulation, abnormal respiratory drive, and hyperphagia. GH, often started in infancy, improves tone, body composition, and height. Concerns about sudden death in children with PWS started on GH, hypothesized secondary to worsening obstructive sleep apnea (OSA) from adenotonsillar hypertrophy, resulted in guidelines...

hrp0089p2-p248 | Growth &amp; Syndromes P2 | ESPE2018

How Frequent Are Growth Charts Used in Paediatric Clinics? An Audit of Growth Chart Use in a District General Hospital in Scotland

Punton Andrew , Britton Nicola , Schulga Jiohn

Introduction: The Royal College of Paediatrics and Child Health1 highlights the importance of growth as a measurement of health and wellbeing in children. Growth measurements in children can only be evaluated if plotted on a growth chart. The use of growth charts was reviewed in Forth Valley Royal Hospital Paediatric department over 10 days in all clinics held in the paediatric outpatient department.Method: Case notes of all c...

hrp0089p2-p249 | Growth &amp; Syndromes P2 | ESPE2018

GrowInform – A Campaign for Early Diagnosis and Treatment of Growth Disorders

Stoycheva Rosica , Iotova Violeta , Galcheva Sonya , Yordanova Galina , Tsochev Kaloyan , Ivanova Antoaneta , Karamfilova Teodora

In 2014 Varna Pediatric Endocrine Society started a program for timely diagnosis and treatment of stature deviations. GPs with 23 058 children under their care were trained and provided with a specialized auxological software to warn them for every stature deviation. From the expected 692 children with short stature (3% of the total), only 33 (0.14%) were sent for further evaluation. Due to the unsatisfactory results we decided to organise a new campaign with the help of media...

hrp0089p2-p250 | Growth &amp; Syndromes P2 | ESPE2018

Growth and Body Composition of Term Healthy Indian Infants from Birth to 2 Years of Age

Jain Vandana , Kumar Brijesh , Kurpad Anura

Objective: To do longitudinal assessment of fat mass (FM)% of term, healthy Indian infants by stable isotope dilution method and skinfold thicknesses.Methods: Term healthy singleton newborns, with birth weight between 1.8 to 4.0 Kg, were followed from birth to 2 years. Anthropometry and skinfold thickness measurement at biceps, triceps, subscapular and supra-iliac sites was done serially at 10 days, 3 months, 1 and 2 years. Anthropometric data was conver...

hrp0089p2-p251 | Growth &amp; Syndromes P2 | ESPE2018

Growth, Body Composition and Metabolic Parameters during Childhood in a Cohort of Children Born with a Small for Gestational Age

Loredana Marcovecchio M. , Gorman Samantha , Murgatroyd Peter , Ong Ken , Dunger David , Beardsall Kathryn

Aims: To examine growth, body composition and glucose metabolism during childhood in children born small for gestational age (SGA).Methods: Single centre cohort study of 150 children (63 boys), identified from newborn records as being born SGA (birth weight SDS <−1.5) and assessed between the age of 4 and 7 years. Data collected included: anthropometric parameters (height, weight, BMI: transformed into age- and sex-adjusted SDS), lean and fat m...

hrp0089p2-p252 | Growth &amp; Syndromes P2 | ESPE2018

Final Results of NordiNet® International Outcome Study: Key Outcomes in Paediatric Patients

Polak Michel , Blair Jo , Rohrer Tilman R. , Pietropoli Alberto , Tonnes Pedersen Birgitte , Savendahl Lars

Background: NordiNet® International Outcome Study ([IOS]; NCT00960128), a non-interventional study (2006–2016), assessed the effectiveness and safety of real-world treatment with Norditropin®. Outcomes were assessed in children with growth hormone deficiency (GHD), born small for gestational age (SGA), Turner syndrome (TS), chronic renal disease (CRD), idiopathic short stature (ISS), Noonan syndrome (NS) and Prader-Willi syndrome (PWS)....

hrp0089p2-p253 | Growth &amp; Syndromes P2 | ESPE2018

Influence of Puberty on Adult Height of SGA Children Treated with GH

Lopez-Siguero Juan P. , Munoz-Martinez Pablo , Borras-Perez Ma Victoria , Alvarez-Casano Maria , Sanchez-Moreno Sonia , Martinez-Aedo Ma Jose

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...

hrp0089p2-p254 | Growth &amp; Syndromes P2 | ESPE2018

Burden and Impacts of Daily Recombinant Human Growth Hormone (r-hGH) Injections in Growth Hormone Deficient (GHD) Paediatric Patients

Loftus Jane , Pleil Andreas , Lamoureux Roger , Turner-Bowker Diane , Yaworsky Andrew , Kelly Masami , Love Emily , McNamara Michelle , Palladino Andrew

Background: Daily r-hGH injection has been safely and effectively used in paediatric patients with GHD for more than 30 years. However, little information is available describing the burden and life impacts experienced by paediatric patients related to daily r-hGH injections.Objective: To identify the burden and impacts of a daily r-hGH injection regimen on the lives of paediatric GHD patients.Methods: A retrospective meta-analysis...

hrp0089p2-p255 | Growth &amp; Syndromes P2 | ESPE2018

Clinical and Cost-Effectiveness of GH Treatment for Children in Wales

Pop Raluca-Monica , Warner Justin T. , Gregory John W.

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

hrp0089p2-p256 | Growth &amp; Syndromes P2 | ESPE2018

Bone Mineral Density and Body Composition of Young Adults Who Were Born Small for Gestational Age and Treated with Growth Hormone, after Treatment Completion

Ascaso Matamala Angela , Trujillano Lidon Laura , Calero Polanco Angelica , Matute-Llorente Angel , Bueno Lozano Gloria

Background: Small for gestational age (SGA) children are at increased risk of metabolic syndrome in adulthood and have below-average bone mineral density (BMD). Growth hormone treatment reduces fat mass and insulin sensitivity, increases lean body mass and improves height and BMD in short SGA children. We aimed to evaluate changes in body composition in SGA patients treated with growth hormone (GH), after its cessation, compared with young adults born appropriate for gestation...

hrp0089p2-p257 | Growth &amp; Syndromes P2 | ESPE2018

Clinical Effectiveness and Cost-Effectiveness of Somatropin Treatment for Short Children in Egypt: Analysis of 1-Year Data

Ibrahim Amany , Atef Abeer , Badawy Nora , Helmy Eatemad

Recombinant human growth hormone (rhGH) is approved for short stature associated with growth hormone deficiency (GHD), idiopathic short stature (ISS), Turner syndrome (TS), multiple pituitary hormone deficiencies (MPHD), Silver Russell syndrome (SRS) and being born small for gestational age non syndromic (SGA). Objectives: To assess the clinical effectiveness and cost-effectiveness of rhGH in children with GHD, TS and those born SGA. Methods: ...

hrp0089p2-p258 | Growth &amp; Syndromes P2 | ESPE2018

Clinical and Molecular Analyses of 24 Patients with Beckwith-Wiedemann SYNDROME

Lu Wei , Wu Bingbing , Zhou Wenhao , Zheng Zhangqian , Zhang Miaoying , Cheng Ruoqian , Luo Feihong

Objective: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that results from abnormal expression of function of imprinting genes. Clinical manifestations vary greatly. To study the molecular genetic mechanism of BWS by Methylation Specific Multiplex Ligation-dependent Probe Amplification (MS-MPLA) and to analyze the relationship between genotype and phenotype, that will be helpful to improve the understanding of this disease.Methods: The copy num...

hrp0089p2-p259 | Growth &amp; Syndromes P2 | ESPE2018

Unusual Case of Combination of Beckwith-Wiedemann Syndrome and SHOX Gene Deficiency

Cassano Gilda , Osimani Sara , Pajno Roberta , Pitea Marco , Partenope Cristina , Russo Silvia , Pozzobon Gabriella

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...

hrp0089p2-p260 | Growth &amp; Syndromes P2 | ESPE2018

An Irish Regional Study of Paediatric Growth Hormone Deficiency (CO-GHD): Classification of Causes and Factors Associated with Persistent GHD at Transition

Grace Mariana , Joyce Caroline , Morissey Rose , Moore Michael , O'Connell Susan

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...

hrp0089p2-p261 | Growth &amp; Syndromes P2 | ESPE2018

Two Different Variants of Short Stature Homeobox-Containing Gene (SHOX) Mutation in the Same Family

Graf Stefanie , Santi Maristella , Losekoot Monique , Fluck Christa E.

Objectives: Deficiency of the short stature homeobox-containing (SHOX) gene is a potential etiology of short stature in children. The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the SHOX-gene and inherited in a pseudo-autosomal dominant manner, is highly variable, even within the same family, ranging from nonspecific short stature to Leri-Weill dyschondrosteosis (LWD). Short stature, mesomelia and Madelung deformity define the classic clin...

hrp0089p2-p262 | Growth &amp; Syndromes P2 | ESPE2018

Identification of a Novel Heterozygous ACAN Mutation in a Patient with Non-Syndromic Short Stature

Partenope Cristina , Gallo Dario , Damia Chiara Maria , Adavastro Marta , Fioretti Lorenzo , Pitea Marco , Weber Giovanna , Pozzobon Gabriella

Aggrecan, encoded by ACAN, is a major proteoglycan component in the extracellular matrix of the growth plate. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. A 6-year-old boy was referred to our Centre for short stature (height 103.60 cm, −3.14 SDS) in familial short stature. Mid-Parental target height was 161.15 cm (−2.38 SDS); His father (height 167.3 cm) is from...

hrp0089p2-p263 | Growth &amp; Syndromes P2 | ESPE2018

Genetic Investigation of SHORT Stature: A Case Report of Complex Constitutive Rearrangement Involving Chromosome 15

Pinto Renata Machado , Minasi Lysa Bernardes , Pinto Irene Plaza , Silva Juliana Ferreira da , Cunha Damiana Mirian da Cruz , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da

Introduction: 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. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

hrp0089p2-p264 | Growth &amp; Syndromes P2 | ESPE2018

Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants

Li Xin , Yao Ruen , Chen Yao , Chang Guoying , Ding Yu , Li Juan , Shen Yiping , Wang Xiumin , Wang Jian

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

hrp0089p2-p265 | Growth &amp; Syndromes P2 | ESPE2018

A Novel Heterozygous Missense Variant in the LZTR1 Gene as a Cause of Noonan Syndrome

Dateki Sumito , Watanabe Satoshi , Yoshiura Koh-ichiro , Moriuchi Hiroyuki

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by a short stature, congenital heart defects, and characteristic facial features. Gain-of-function mutations of multiple genes in the Ras/mitogen activated protein kinase pathway have been identified in 70–80% of patients with NS. Recently, leucine-zipper-like transcription regulator 1 (LZTR1), which has not previously been associated with the pathway, was reported as a new causative...

hrp0089p2-p266 | Growth &amp; Syndromes P2 | ESPE2018

A Novel FGFR1 Mutation in Kallmann Syndrome with Growth Hormone Deficiency

Tornese Gianluca , Pellegrin Maria Chiara , Pavan Matteo , Faleschini Elena , Barbi Egidio

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

hrp0089p2-p267 | Growth &amp; Syndromes P2 | ESPE2018

Clinical and Molecular Characterization of Eight Chinese Children with Cornelia de Lange Syndrome Using Targeted Next Generation Sequencing

Chang Guoying

Cornelia de Lange Syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. The present study described eight unrelated Chinese children who present with delayed growth and small stature, developmental delay, unusual facial features, limb abnormalities and a wide range of health conditions. Targeted-next generation sequencing using the ...

hrp0089p2-p268 | Growth &amp; Syndromes P2 | ESPE2018

A New Mutation in IHH Gene Causing Severe Short Stature

Festa Adalgisa , Luongo Caterina , Grandone Anna , Cirillo Grazia , Greco Federica , Torella Annalaura , Nigro Vincenzo , Giudice Emanuele Miraglia Del

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

hrp0089p2-p269 | Growth &amp; Syndromes P2 | ESPE2018

Case Report: Ellis Van Creveld Syndrome With a Novel Mutation

Sobu Elif , Demirkol Yasemin Kendir , Yılmaz Gulay Can , Ozcora Gul Demet , Yenigurbuz Fatma

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

hrp0089p2-p270 | Growth &amp; Syndromes P2 | ESPE2018

A Homozygous Pathogenic Variant in the TRHR Gene in a Boy Who Presented With Severe Familial Short Stature and Central Hypothyroidism

Šnajderova Marta , Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Zemkova Dana , Lebl Jan , Pruhova Štěpanka

Introduction: Congenital central hypothyroidism (CCH) is a rare disease with inappropriate thyroid hormone secretion due to impaired TSH stimulation. TSH levels are not elevated; the patients are not diagnosed in TSH-based newborn screening. Biallelic variants in TRHR gene (encoding TRH receptor) are one of four genetic defects known to cause isolated CCH (THRH, THSB, IGSF1, TBL1X). The phenotype is variable but generally mild (neon...

hrp0089p2-p271 | Growth &amp; Syndromes P2 | ESPE2018

Unexpected Growth Patterns in Branchio-Oto-Renal Syndrome

Clarke Emma , McDonnell Ciara

Background: Branchio-oto-renal (BOR) syndrome is a rare inheritable condition affecting the ears, 2nd branchial arch structures and the urinary system. Recognised features include hearing loss, structural defects of the ear, branchial defects, and a variety of renal malformations. Causative genetic variants have been identified as SIX1 and EYA1, accounting for approximately 49% of all cases of BOR syndrome. Short stature has not commonly been described in BOR syndrome, but is ...

hrp0089p2-p272 | Growth &amp; Syndromes P2 | ESPE2018

Mild Autistic Spectrum Disorder in a 33 Year-old Male Japanese Patient with Temple Syndrome

Yatsuga Shuichi , Kagami Masayo , Matsubara Keiko , Kimura Takuro , Yatsuga Chiho , Mukasa Rio , Matsumoto Takako , Koga Yasutoshi

Introduction: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...

hrp0089p2-p273 | Growth &amp; Syndromes P2 | ESPE2018

Seventeen-year Observation in a Japanese Female Case of Tatton-Brown-Rahman Syndrome: An Overgrowth Syndrome with Intellectual Disability

Miyoshi Yoko , Yamamoto Keiko , Nakano Yukako , Yamamoto Kenichi , Kubota Takuo , Ozono Keiichi

Background: Advances in genetic analysis techniques has greatly contributed to recent discovery of causative genes associated with overgrowth with intellectual disability (OGID). Tatton-Brown-Rahman syndrome (TBRS) (OMIM #615879) was one of them, characterized by tall stature, a distinctive facial appearance, and intellectual disability. This syndrome was first reported in 2014. Thus, long-term clinical courses are unknown. We present our Japanese case with OGID who was diagno...

hrp0089p2-p274 | Growth &amp; Syndromes P2 | ESPE2018

KBG Syndrome: Our Experience and Unreported Clinical Features

Scarano Emanuela , Tassone Martina , Tamburrino Federica , Graziano Claudio , Perri Annamaria , Stefanelli Francesca , Vestrucci Benedetta , Mazzanti Laura

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

hrp0089p2-p275 | Growth &amp; Syndromes P2 | ESPE2018

Growth of Infants Born by Intracytoplasmic Sperm Injection (ICSI) Technique

Eldakrouri Ahmed Farouk , Ali Hamdy Alsayed , Alrifai Hilal , Soliman Ashraf

Due to recent scientific progress in assisted reproductive techniques (ART), infertile couples can now become fertile. Thus, a number of infants in our country are the results of these costly interventions. This study has been undertaken to evaluate the physical growth of ART infants using standard growth charts from birth until 18 months of age.Methods: We measured the anthropometric data of 100 infants newborns conceived through ART intracytoplasmic sp...

hrp0089p2-p276 | Growth &amp; Syndromes P2 | ESPE2018

Earlier Mother’s Age at Menarche is a Risk Factor of Daughter’s Early Menarche and Short Stature in Young Korean Female: Epidemiologic Study

Lim Jung Sub , Hwang Jin Soon

Objective: To investigate whether earlier mother’s age at menarche is a risk factor of daughter’s early menarche, obesity, and short stature in young Korean female.Research design and methods: We tested associations between mother’s age at menarche, mother’s adult body size and her daughter’s age at menarche, body size from the data of 6th Korea National Health and Nutrition Examination Survey (KNHANES VI) (2013–2015). We an...

hrp0089p2-p277 | Growth &amp; Syndromes P2 | ESPE2018

Pulling the Brakes – ‘Catch Down Growth’: A Phenomenon for Achieving Mid-parental Height Centile After Acquired, All-cause, Brain Injury

Kraus Fabian B T , Hindmarsh Peter C , Spoudeas Helen A

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...

hrp0089p2-p278 | Growth &amp; Syndromes P2 | ESPE2018

Effects of Inhaled Corticosteroids and Montelukast on Growth and BMI in Children with Asthma

Akin Onur , Yavuz Suleyman Tolga

Background: Inhaled corticosteroids (ICS) and montelukast are commonly prescribed drugs in asthma treatment. Several studies have investigated the adverse effects of ICS on growth and weight gain in children. However, the biosafety studies of montelukast are mostly focused on the neuropsychiatric side effects. The present study aimed at investigating the adverse effects of montelukast and ICS on anthropometric parameters in children.Methods: The present ...

hrp0089p2-p280 | Growth &amp; Syndromes P2 | ESPE2018

Skeletal Disproportion and Growth Impairment in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy

Kao Kung-Ting , Joseph Shuko , Brown Sarah , Capaldi Nadia , Dunne Jennifer , Horrocks Iain , DiMarco Marina , McMillan Martin , Shepherd Sheila , Ahmed Syed Faisal , Wong Sze Choong

Introduction: Although short stature is common in boys with Duchenne Muscular Dystrophy (DMD), little information on body proportions and the GH/IGF-1 axis exists.Methods: Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia, humerus) in boys with DMD (n=30) and healthy boys (n=79) were measured using DXA digital images by 1 observer. Insulin growth factor-1 (IGF1), IGF binding protein-3 (IGFBP-3) and a...

hrp0089p2-p281 | Growth &amp; Syndromes P2 | ESPE2018

A Novel Mutation in the SLC2A2 Gene in a 19-Year-Old Female with Diabetes Mellitus and Renal Tubular Acidosis: A Therapeutic Conundrum

Sharari Sanaa , Al-Khawaga Sara , Hasnah Reem , Saraswathi Saras , Haris Basma , Saeed Amira , Mohammed Idris , Malik Riyaz , Hussain Khalid

Background: Mutations in the SLC2A2 gene are implicated in Fanconi-Bickel syndrome (FBS). This is a rare form of glycogen storage disease (GSD) inherited in an autosomal recessive manner characterized by hepato-renal glycogen accumulation, impaired glucose and galactose utilization, and proximal renal tubular dysfunction. The world-wide frequency of Fanconi-Bickel syndrome is not known, though the disease is considered to be rare in which a little more that 100 cases ...

hrp0089p2-p282 | Growth &amp; Syndromes P2 | ESPE2018

Vesico-Ureteral Reflux and Effect on Growth Indices

Nicolas Georges , Hneineh Roula , Kalifeh Marie-Claude Faddous

Background: Vesico-ureteral reflux (VUR) is the most common urologic abnormality seen in children. It represents the backflow of urine from bladder to upper urinary structures due to a defect in closure of uretero-vesical junction. This condition predisposes children to repetitive pyelonephritis associated with renal scarring.Objective: Studies are continuously searching for the potential effect of VUR on growth. We aimed to assess growth indices: height...

hrp0089p2-p283 | Growth &amp; Syndromes P2 | ESPE2018

A Novel in Frame Deletion Mutation in Exon11 in BTK Gene to X-linked Agammaglobulinemia: Case Report and Function Analysis

Xiaomei Hu , Ke Yuan

Objective: X-linked agammaglobulinemia (XLA) is a kind of primary immunodeficiency disease caused by mutations in the gene encoding Bruton agammaglobulinemia tyrosine kinase (BTK). This study, we identified a novel in frame deletion mutation in exon11, c.902 _ c.904 delAAG(p.e301 _ g302 delinsG) in BTK gene and evaluated the function of BTK.Methods: A five-year-old boy presented with recurrent respiratory tract infections. His height wa...