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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

hrp0084p2-446 | Growth | ESPE2015

BMI Negatively Correlates with GH Response to GH Provocation Testing

Vasilakis Ioannis-Anargyros , Gausche Ruth , Beger Christoph , Kratzsch Juergen , Kiess Wieland , Koerner Antje , Pfaeffle Roland

Background: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

hrp0084p2-447 | Growth | ESPE2015

SHOX Mutation Spectrum in an Unbiased Cohort of 585 Patients Referred for Leri-Weill Dyschondrosteosis or Idiopathic Short Stature

Belinchon Alberta , Benito-Sanz Sara , de la Torre Carolina , Barreda-Bonis Ana C , Gonzalez-Casado Isabel , Heath Karen E

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

hrp0084p2-448 | Growth | ESPE2015

Determination of the Pathogenicity of SHOX P2 Promoter Variants, Identified in Patients with Léri-Weill Dyschondrosteosis or Idiopathic Short Stature

Belinchon Alberta , Benito-Sanz Sara , Heath Karen E

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

hrp0084p2-449 | Growth | ESPE2015

Risk for Non-Alcoholic Fatty Liver Disease in Young Adults Born Preterm

Breij Laura M , Kerkhof Gerthe F , Hokken-Koelega Anita C S

Background: Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic manifestation of metabolic syndrome. Accelerated catch-up in weight during infancy in subjects born term has been associated with increased risk for NAFLD in adulthood, but this association has not been studied in subjects born preterm.Objective and hypotheses: To investigate the associations of birth weight, gain in weight for length and accelerated catch-up in weight in the...

hrp0084p2-450 | Growth | ESPE2015

Pharmacokinetics and Efficacy of a Long-Acting Human GH with Fc Fusion Protein

Kim Sujin , Jin Dong-Kyu , Cho Sungyoon , Huh Rimm , Kim Jinsup , Yang Aram , Kwak Hyunhee

Background: Recombinant human GH (rhGH) therapy requires daily s.c. injections, this inconvenient treatment regimen results to poor compliance of the patient. Thus, to improve patient compliance, long-acting rhGH products including various protein fusion techniques have been in development during past 15 years.Objective and hypotheses: In this study, we describe the pharmacokinetics and efficacy of a novel long-acting GH using Fc fusion protein (rhGH-Fc)...

hrp0084p2-451 | Growth | ESPE2015

SHOX Deficiency: Clinical, Radiological Signs and Value of Screening Scores

Genoni Giulia , Esposito Sandra , Agarla Valentina , Monzani Alice , Castagno Matteo , Raviolo Silvia , Petri Antonella , Prodam Flavia , Bellone Simonetta , Bona Gianni

Objective and hypotheses: We studied the prevalence of deficiency in the short stature homeobox containing gene (SHOX) in short-statured children and analysed clinical and radiological signs.Method: A total of 162 children aged 1–17 years (53% females, 67% prepubertal, median age 6.6 years, median height SDS −1.7) presenting with short stature between 2008 and 2014, were analysed for SHOX mutations by direct sequencing and multiplex ligation p...

hrp0084p2-452 | Growth | ESPE2015

Skeletal Dysplasia with Short Stature and a Larsen-Like Phenotype due to a Homozygous Mutation in B3GAT3

Steichen-Gersdorf Elisabeth , Laccone Franco

Background: Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndrome–like phenotypes.Objective and hypotheses: We report on a girl with disproportionate short stature and joint laxity with pes planus and radial ...

hrp0084p2-453 | Growth | ESPE2015

Cross-Sectional and Longitudinal Follow-Up of Changes in Glucose Metabolism in Prepubertal GH-Treated SGA-Patients: Results of an Unicentric Study

Sydlik Carmen , Bechtold Susanne , Weissenbacher Claudia , Roeb Julia , Buckl Matthias , Putzker Stefanie , Schmidt Heinrich

Background: Several studies show impaired glucose tolerance at a certain number of years after start of growth hormone in SGA-children.Objective and hypotheses: To perform a longitudinal and cross-sectional evaluation of the oGTTs (glucose-insulin-pairs) in prepubertal GH-treated SGA-children and to evaluate if ISI and HOMA are effective surrogates for glucose tolerance and of prognostic value (0–1 year data).Method: In 81 pre...

hrp0084p2-454 | Growth | ESPE2015

Growth Pattern in Children Affected of Lowe Syndrome – Descriptive Multicentre International Study: Preliminary Data

Suarez-Ortega Larisa , Roman Anna Casteras , Loranca Marisa , del Pozo Jaime Sanchez , Group Rare Commons

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

hrp0084p2-455 | Growth | ESPE2015

Effect of Aromatase Inhibitor Treatment During Adolescence on the Final Adult Height in Males with Idiopathic Short Stature

Yan-hong Li , Min-lian Du , Hua-mei Ma , Hong-shan Chen , Qiu-li Chen , Jun Zhang

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...

hrp0084p2-456 | Growth | ESPE2015

The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls

De Leonibus Chiara , Roze Zane , Attanasi Marina , Marcovecchio Maria Loredana , Di Pillo Sabrina , Chiarelli Francesco , Mohn Angelika

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...

hrp0084p2-457 | Growth | ESPE2015

Low Plasma Ghrelin Levels in Children with Severe Protein Energy Malnutrition

Harikrishnan V , Kumar Rakesh , Sachdeva Naresh , Dayal Devi

Background: Protein energy malnutrition (PEM) is a catabolic state with altered energy balance and anorexia. Ghrelin is a peptide hormone, produced by neuro-endocrine cells in the stomach, which stimulates appetite, increases food intake and growth hormone release. Although many trials have shown short term efficacy of ghrelin to increase appetite in anorexic and cachectic patients, data on the children with PEM is scarce.Objective and hypotheses: The st...

hrp0084p2-458 | Growth | ESPE2015

Sleep Apneas in Silver Russell Syndrome: A Constant Finding

Giabicani Eloise , Boule Michele , Galliani Eva , Netchine Irene

Background: Imprinting disease such as Prader-Willi syndrome (PWS) are associated with pathological sleep due to central and obstructive apneas. No data are available concerning Silver Russell syndrome (SRS) but most patients describe day asthenia and snoring. These patients also often present with maxillo-facial malformations.Aims and objectives: We wanted to characterise sleep in SRS and evaluate GH therapy possible effect on it....

hrp0084p2-459 | Growth | ESPE2015

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Hisado-Oliva Alfonso , Garre-Vazquez Ana Isabel , Santaolalla-Caballero Fabiola , Belinchon Alberta , Barreda-Bonis Ana Coral , Vasques Gabriela A , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Benito-Sanz Sara , Jorge Alexander A , Campos-Barros Angel , Heath Karen E

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...

hrp0084p2-460 | Growth | ESPE2015

Individuals with Cow’s Milk Allergy are at Risk for not Reaching their Growth Potential

Sinai Tali , Amitzur-Levy Roni , Nachshon Liat , Yihye Tamar , Goldberg Michael R , Monsonego-Ornan Efrat , Katz Yitzhak

Background: Poor growth and inadequate nutrient intake by food allergic children have been suggested, particularly for children avoiding milk.Objective and hypotheses: To investigate the impact of a dairy-free diet on the final stature of IgE-mediated Cow Milk Allergy (IgE-CMA) young adults.Method: Anthropometric data was measured in 60 IgE-CMA patients (20.4±3.4 years old, 26 males (43%)) and 36 volunteers without IgE-CMA (co...

hrp0084p2-461 | Growth | ESPE2015

French Growth Reference Charts should be Updated

Stoupa Athanasia , Goischke Alexandra , Garcin Camille , Elie Caroline , Viaud Magali , Thery Anne , Richard Genevieve , Polak Michel

Background: Growth charts constitute an important tool to monitor a child’s growth and development, and thus detect growth anomalies. Growth assessment allows early referral and management of treatable disorders. In France, the currently used growth reference charts were derived at the end of 1970s, based on children born on 1950s in Paris area. Questions are raised about their use for growth monitoring of more recently born children.Objectives: To ...

hrp0084p2-462 | Growth | ESPE2015

Advanced Bone Age and Accelerated Dental Development Associated with Elevated Retinoic Acid Levels and Haploinsufficiency of CYP26A1 and CYP26C1

Nilsson Ola , Isoherranen Nina , Guttmann-Bauman Ines , Jee YouHee , Guo Michael , Lui Julian , Dauber Andrew

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...

hrp0084p2-463 | Growth | ESPE2015

Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?

Scaglia Paula , Sala Andrea , Bergada Ignacio , Braslavsky Debora , Keselman Ana , Espinola-Castro Angela , Domene Sabina , Jasper Hector , Corach Daniel , Domene Horacio

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

hrp0084p2-464 | Growth | ESPE2015

Infant with Phenotype Suggestive of Silver-Russell Syndrome and Study of Normal Methylation: Consider 12q14.3q15 Microdeletion Syndrome

Vargas Natalia , Galo Blanca Lidia , Campos Ariadna , Vendrell Teresa , Plaja Antonio , Yeste Diego

Background: The 12q14.3q15 microdeletion syndrome is a rare entity of which only 16 new cases have been described to date. The syndrome consists of the association of severe pre- and postnatal growth retardation, proportional short stature, psychomotor retardation and osteopoikilosis. The phenotypic appearance of these patients poses a differential diagnosis with Silver-Russell syndrome, among other entities.Clinical description: A 10-month-old boy was r...

hrp0084p2-465 | Growth | ESPE2015

Making Adult Height Prediction Complete: Forecasting the Age of the Growth Spurt and the Height and Velocity Trajectories Until Adulthood

Martin David , Mortensen Sofus , Jenni Oscar , Thodberg Hans Henrik

Background: Adult height prediction (AHP) based on bone age appears as an incomplete procedure – it does not reveal the path from the present to the end-point. Growth charts offer little help in this respect because they average over children with different age of growth spurt (AGS).Objective and hypotheses: To extend AHP by also forecasting AGS and the entire height and velocity trajectories until adulthood and displaying this in a growth chart mad...

hrp0084p2-466 | Growth | ESPE2015

Whole Exome Sequencing Identifies De Novo HRAS Mutation Underlying Primary IGF1 Deficiency (PIGFD)

Grosse Greta , Hilger Alina , Draaken Markus , Ludwig Michael , Reutter Heiko , Lorenzen Franziska , Woelfle Joachim

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

hrp0084p2-467 | Growth | ESPE2015

Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease

Catli Gonul , Hwa Vivian , Loseqoot Monique , Ozyilmaz Berk , Edeer Neslihan , Dundar Bumin Nuri , Wit Jan Marteen

Background: STAT5B deficiency is characterized by severe postnatal growth failure, low IGF1, elevated levels of GH and prolactin, and immunodeficiency. To date, only ten patients with seven different mutations have been described.Objective and hypotheses: Describe clinical characteristics of a novel homozygous frameshift mutation in STAT5B.Results: A 17-year-old female was referred for proportionate short stature and prima...

hrp0084p2-468 | Growth | ESPE2015

Novel Heterozygous ACAN Mutations in Short Stature: Expanding the Clinical Spectrum

Sentchordi Lucia , Barraza Jimena , Rivera Carlos Ivan , Marcos M. Victoria , Sanchez M. Consuelo , Vallespin Elena , Pozo Angela del , Heath Karen E.

Background: Homozygous aggrecan (ACAN) mutations have been described in a few skeletal dysplasias whilst more recently, heterozygous ACAN mutations have been reported in few families presenting with idiopathic short stature with advanced bone maturation and premature growth cessation.Case presentation: We describe two novel heterozygous ACAN stop mutations, detected using a skeletal dysplasia NGS panel and confirmed by Sanger sequencing...

hrp0084p2-469 | Growth | ESPE2015

Major Improvement in Parental Perception of their Children’s Height-Specific Quality of Life after 1 Year of GH Treatment: Our Experience with the QoLiSSY Questionnaire

Gonzalez-Briceno Laura Gabriela , Viaud Magali , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Pauwels Christian , Beltrand Jacques , Busiah Kanetee , Pinto Graziella , Polak Michel

Background: Short stature may be a source of social and affective stress in children and their parents, and thus impact negatively on their quality of life (QoL). Treatment by GH may improve QoL through normalisation of height.Objective: To evaluate height-specific QoL in short stature children after 1 year of GH treatment.Methods: Prospective study. Inclusion criteria were: having started GH treatment at Hôpital Necker-Enfant...

hrp0084p2-470 | Growth | ESPE2015

Hypomethylation within the Imprinted Dlk1 - Dio3 Domain: a Potential Regulatory Mechanism of Pre and Postnatal Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Cavelier Patricia , Magret Agnes , Sabench Cristina , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Genomic imprinting causes genes to be expressed or repressed depending on their parental origin. The 1-Mb DLK1-DIO3 imprinted domain is located on human chromosome 14. Gene expression along this cluster is regulated by an intergenic differentially methylated imprinting control region (‘IG-DMR’). In mice, altered gene dosage within this cluster is associated with alterations in embryonic and placental growth.Objective and hy...

hrp0084p2-471 | Growth | ESPE2015

Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study

Aston Kayleigh , Grosvenor Gemma , Peters Catherine , Mathew Verghese , Blair Joanne , Chapman Simon , Buchanan Charles , Maher Eamonn , Dias Renuka

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

hrp0084p2-472 | Growth | ESPE2015

Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region

Benito-Sanz Sara , Belinchon Alberta , Heath Karen E

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

hrp0084p2-473 | Growth | ESPE2015

The Pubertal Gain in Height is Inversely Related to BMI in Childhood

Holmgren Anton , Niklasson Aimon , Nierop Andreas F.M. , Gelander Lars , Aronson A. Stefan , Sjoberg Agneta , Lissner Lauren , Albertsson-Wikland Kerstin

Background: Weight in childhood may influence the pubertal timing and pattern of growth.Objective: To investigate the impact of BMI in childhood on further growth, especially the specific pubertal pattern of growth.Method: The longitudinally followed GrowUpGothenburg1990 birth cohort, was analyzed using the QEPS growth model (Nierop et al. Horm Res in Ped. 2013; 80(suppl 1):152–153) (describi...

hrp0084p2-474 | Growth | ESPE2015

Growth Curves for Height, Weight, BMI and Head Circumference in Children with Achondroplasia

Merker Andrea , Hagenas Lars , Hertel Thomas , Neumeyer Lo

Background: Close monitoring of growth is vital when following children with achondroplasia yet existing growth curves suffer from a simple chart format and their clinical use is therefore limited. Also, references for body proportions; i.e. sitting height, relative sitting height and arm span, are lacking.Objective and hypotheses: The aim of this study was to construct age-specific growth curves for height, weight, body mass index, head circumference an...

hrp0084p2-475 | Growth | ESPE2015

Growth Hormone Deficiency and Pituitary Dysgenesis in a Girl with Microdeletion 2q31.1

Hammer Elke , Busche Andreas , Gillessen-Kaesbach Gabriele

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...

hrp0084p2-476 | Growth | ESPE2015

One Year Screening Program for Stature Deviations – Strategy and Outcome

Yordanova Galina , Iotova Violeta , Lateva Mina , Galcheva Sonya , Stoycheva Rositsa , Mladenov Vilchelm , Boyadjiev Vesselin , Bazdarska Yulia , Ivanova Antonia

Background: Many children still miss the early recognition of their stature problems due to inefficient screening strategies.Objective and hypotheses: To assess stature deviations referral through recruiting general practitioners (GPs) and providing them with tools for easier anthropometric data assessment and enhanced access to the Paediatric Endocrinologist.Method: Thirty-one general practitioners with a total of 23 058 patients ...

hrp0084p2-477 | Growth | ESPE2015

BASIC: Bone Age Study in Children

Cockill Toby , Hewitt Amanda , Wright Neil , Elder Charlotte

Background: Bone age studies require X-ray of the left hand and wrist to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides an objective framework for calculating bone age and specifies exact placement of the hand. In our service we have noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, with time,...

hrp0084p2-478 | Growth | ESPE2015

Comparison of the Turkish Growth Standards with the Who Standards

Abali Zehra Yavas , Bundak Ruveyde , Furman Andrezj , Gokcay Gulbin , Gunoz Hulya , Bas Firdevs , Darendeliler Feyza , Neyzi Olcay

Background: Growth standards are important tools in the monitoring of growth. In 2006 the World Health Organization (WHO) published new growth charts based on infants and young children living in optimal conditions in six countries and proposed that these and the NCHS data on North American children be accepted as standards for children in all countries throughout the world. Studies comparing country specific standards with WHO growth charts are therefore necessary.<p clas...

hrp0084p2-479 | Growth | ESPE2015

Moya Moya Syndrome in a Patient with Growth Hormone Deficiency and Hypergonadotropic Hypogonadism: to Treat or not to Treat with Growth Hormone Therapy?

Briceno Laura Gabriela Gonzalez , Stoupa Athanasia , Pinto Graziella , Touraine Philippe , Polak Michel

Background: Moya Moya disease is a chronic cerebrovascular angiopathy characterized by progressive stenosis of terminal part of internal carotid vessels and the compensatory development of collateral vessels. We present here the case of a young boy with growth hormone deficiency (GHD) and testicular insufficiency that was diagnosed with Moya Moya syndrome.Case presentation: A 12.9 year-old boy of Serbian origin was referred to the Endocrinology Departmen...

hrp0084p2-480 | Growth | ESPE2015

In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children

Martucci Lucia , Scaglia Paula , Karabatas Liliana , Rey Rodolfo , Domene Horacio , Domene Sabina , Jasper Hector

Background: ALS deficient (ALS-D) patients present severe IGFI and IGFBP3 deficiencies and variable degree of growth retardation. Heterozygous carriers for IGFALS variants, ALS-D relatives or a subset of ISS children, have levels of IGFI, IGFBP3 and ALS intermediate between ALS-D and wildtype (WT) subjects. This supports that IGFALS gene variants may affect ALS synthesis, secretion and/or function and could be responsible for the observed phenotype.<p cla...

hrp0084p2-481 | Growth | ESPE2015

Klinefelter Syndrome with Short Stature and Microcephaly: An Unusual Combination

Galo Blanca Lidia , Vargas Natalia , Clemente Maria , Vendrell Teresa , Plaja Alberto , Yeste Diego

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

hrp0084p2-482 | Growth | ESPE2015

Childhood Growth of Boys with Congenital Hypogonadotropic Hypogonadism

Varimo Tero , Hero Matti , Laitinen Eeva-Maria , Miettinen Paivi , Tommiska Johanna , Juul Anders , Raivio Taneli

Background: Congenital hypogonadotropic hypogonadism (CHH) provides a model to study the impact of sex steroid deficiency on childhood growth.Aims and objectives: We characterised growth patterns in male CHH patients with special emphasis on growth during the minipuberty of infancy.Methods: Growth charts of 38 men with CHH (28 from Finland and 10 from Denmark) were evaluated. Fifteen (39%) patients had representative length measure...

hrp0084p2-483 | Growth | ESPE2015

Hypermethylation at the Imprinted C19mc Microrna Cluster: A New Link between Maternal Metabolism and Infant’s Growth

Prats-Puig Anna , Carreras-Badosa Gemma , Bassols Judit , Girardot Michael , Carrion Empar , Gehmis Radu , Zegher Francis de , Ibanez Lourdes , Feil Robert , Lopez-Bermejo Abel

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...