Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082p2-d1-448 | Growth | ESPE2014

Isolated GH Deficiency (IGHD) may be due to Several Different Causes: mutations in the GHRH Receptor Gene Are a Relatively Rare Cause of IGHD

Demirbilek Huseyin , Tahir Sophia , Baran Riza Taner , Sherif Maha , Ozbek Mehmet Nuri , Hussain Khalid

Background: Isolated GH deficiency (IGHD) may be due to several different causes. Mutations in the GHRH receptor (GHRHR) gene are a relatively rare cause of IGHD.Objective and hypotheses: To understand the molecular cause of severe short stature in a large highly consanguineous family with IGHD.Method: Affected patients were evaluated for GH secretion and other anterior pituitary function. Anterior pituitary size was measu...

hrp0082p2-d1-449 | Growth | ESPE2014

Fibroblast Growth Factor 21 is Inversely Associated with Growth Rates in Infancy

Mericq Veronica , De Luca Francesco , Hernandez Maria_Isabel , Pena Veronica , Rossel Katherine , Cavada Gabriel , Avila Alejandra , Iniguez German

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...

hrp0082p2-d1-450 | Growth | ESPE2014

Identification of NPR2 Mutations in Disproportionate Short Stature

Hisado-Oliva Alfonso , Benito-Sanz Sara , Belinchon Alberta , Vallespin Elena , del Pozo Angela , Barreda-Bonis Ana C. , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Campos-Barros Angel , Heath Karen E.

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

hrp0082p2-d1-451 | Growth | ESPE2014

Eleven Years of Letrozole Treatment in a Child with 11-β Hydroxylase Deficiency: Effect on Bone Age and Height Prognosis

Bereket Abdullah , Atay Zeynep , Guran Tulay , Haliloglu Belma , Abali Saygin , Bas Serpil , Turan Serap

Background: Aromatase inhibitors (AI) are being used in clinical trials in children related to peripheral precocious puberty, and idiopathic short stature to improve height prognosis.Case report: A 2 11/12 year-old boy was referred to our center for evaluation of penile enlargement and pubic hair development. Physical examination revealed a well-developed muscular boy with a body weight of 22 kg (>97p), height of 110.1 cm (>97p), with ...

hrp0082p2-d1-452 | Growth | ESPE2014

Rasopathies: Assessment of Growth, Genetic Study, Genotype–Phenotype Correlation and Therapeutic Response to GH in Noonan Syndrome

Heredia Claudia , Barros Francisco , Castro-Feijoo Lidia , Conde Jesus Barreiro , Rodriguez Paloma Cabanas , Arias Manuel Pombo

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...

hrp0082p2-d1-453 | Growth | ESPE2014

New Reference for Height in Swedish Boys and Girls

Albertsson-Wikland Kerstin , Niklasson Aimon , Gelander Lars , Holmgren Anton , Nierop Andreas F M

Background: The actual Swedish growth references are based on a cohort born 1974.Objective and hypotheses: Due to secular changes there is need for new height references.Method: Material: Height measurements from birth to adult height (AH) in a cohort of healthy, Nordic and born full term 1990, 20.796 from 1647 boys, 19.202 from 1501 girls were used (ALL) and compared to both a subgroup with puberty close to mean (PHV &#17...

hrp0082p2-d1-454 | Growth | ESPE2014

Endocrine characteristics of patients with anorexia nervosa in a large paediatric study cohort

Toenne Moritz , Datz Nicolin , Heger Sabine , Hartmann Rainhard , Danne Thomas , Kuznik Gerd , Neuhaus Burkhard , Kordonouri Olga

Aim: To examine the prevalence of endocrine abnormalities and outcome in children and adolescents with Anorexia nervosa (AN).Methods: The study cohort consisted of 181 patients (age 14.6±1.9 years; 160 girls, 21 boys) with AN (n=137), atypical AN (n=6) and other eating disorders except of Bulimia (n=38) who were hospitalized between Jan 2010 and Feb 2013. Somatometric [body-mass-index (BMI), BMI-SDS] and endocrine parameters were a...

hrp0082p2-d1-455 | Growth | ESPE2014

The Effect of Long Term GH Therapy in Discordant Twins Where One Twin is Born Small for Gestational Age: A Case Control Study

Letshwiti Johannes , O'Mullane Elaine , Hoey Hilary , Roche Edna

Background: The positive effect of GH therapy in small for gestational age (SGA) singletons has been shown in previous studies. Little is known about twin growth and GH treatment where only one twin is born SGA.Objective and hypotheses: We present data from two set of twins where one was appropriate for gestational age (control) and the other twin was SGA (treatment).Method: Twin pair 1: male monochorionic diamniotic (MCDA) twins b...

hrp0082p2-d1-456 | Growth | ESPE2014

How Early is the Rise in Leptin Levels in Small for Gestational Age Children With Catch Up Growth

Gupta Ainam , Yadav Sangita , Ramji Siddharth , Mishra T K

Background: Strong association of early postnatal catchup growth in SGA with higher leptin levels and increased risk of insulin resistance has been described.Objective: To determine leptin levels in term small for gestational age (SGA) children at 15–18 months age and assess their relationship with postnatal catchup growth (CUG).Methods: Birth and current weight and length of 60 term SGA (<10thpercentile) childr...

hrp0082p2-d1-457 | Growth | ESPE2014

Relation Between CNP and the Effect of Combined Treatment With GnRHa and GH on the Linear Growth in Mid/Late Pubertal Girls with Central Precocious Puberty or Early and Fast Puberty at Great Bone Ages

Hua-mei M A , Zhe S U , Yin-ya L I

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

hrp0082p2-d1-458 | Growth | ESPE2014

Two Duplications Within PAR1 in a Family With Idiopathic Short Stature

Obermannova Barbora , Drabova Jana , Dusatkova Petra , Lebl Jan

Background: Short stature homeobox-containing gene (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. SHOX mutations and PAR1 deletions encompassing SHOX or its upstream/downstream enhancers have been identified in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5–15% of idiopathic short stature (ISS) patients. Recently SHOX duplications have been described in LWD/ISS individuals.Case presentation: The boy was ...

hrp0082p2-d1-459 | Growth | ESPE2014

Comparison Between GH assay: serum GH Cut-off Levels by ECLIA Performed in Pharmacological Estimulation Tests in Children With Short Stature

Aguirre Cecilia , Sobrero Gabriela , Schvab Giselle , Silvano Liliana , Alvarez Julia , Ochetti Mariana , Lescurat Maria , Paez Alejandra , Munoz Liliana , Martin Silvia , Miras Mirta

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

hrp0082p2-d1-460 | Growth | ESPE2014

Skeletal Disproportion and Final Adult Height in Childhood-Onset Crohn’s Disease

Mason Avril , Iljuhhina Jelena , Laird Susan , Ross David , Ahmed Syed Faisal , Gaya Dan R , Gerasamidis Konstantinos

Background: Short stature is a recognized complication of Crohn’s disease (CD) in children. Less is known on the impact of disease on final adult height and body proportions.Objective and hypotheses: To assess height and body proportions in 48 adults (F: 30; M: 18) with childhood (ACO) or adult (AAO) onset CD and 44 children (C) (F:22; M:22) with CD.Method: Standing, sitting height (SH) and leg length (SILL) were measured and ...