ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Syndromes: Mechanisms and Management P2

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Thyroid P1

hrp0086p2-p834 | Syndromes: Mechanisms and Management P2 | ESPE2016

Auxological Features in Patients with Vernal Keratoconjunctivitis

Stagi Stefano , Pucci Neri , Del greco Paolo , Scalini Perla , Tubili Flavia , Pantano Stefano , de Martino Maurizio , Novembre Elio

Background: Vernal keratoconjunctivitis (VKC) patients have an elevated incidence of growth hormone deficiency and thyroid diseases. Nevertheless, no auxological data are available in these subjects.Objective and hypotheses: The purpose of this study was to evaluate the auxological features in a cohort of patients with VKC.Method: This study included 179 Caucasian VKC patients (119 males, 60 females; mean age 9.63±2.98 years) ...
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hrp0086p2-p835 | Syndromes: Mechanisms and Management P2 | ESPE2016

Turner Syndrome: Does GH Treatment Influence Glucose Homeostasis?

Baronio Federico , Lupi Fiorenzo , Girtler Ylenia , Tamburrino Federica , Maltoni Giulio , Scarano Emanuela , Mazzanti Laura , Radetti Giorgio

Background: Growth hormone (GH) has been shown to reduce insulin sensitivity in Turner girls, however a compensatory increase of insulin secretion by pancreatic beta cells usually occurs, probably stimulated by GH itself. Oral disposition index (ODI) express the capacity of beta cells to adapt to insulin sensitivity.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the insulin secretion (IGI) and the ODI in a group of gi...
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hrp0086p2-p836 | Syndromes: Mechanisms and Management P2 | ESPE2016

Renal Anomalies in Children with Turner Syndrome: Experience from a Single-Centre

Lucaccioni Laura , Wong Sze Choong , Strano Rosario , Donaldson Malcolm , Cascio Salvatore , Mason Avril

Background: Renal abnormalities are estimated to be present in 30–40% of Turner Syndrome (TS). Monosomic patients have a reported greater risk for renal anomalies.Objective: To assess the frequency of renal malformations in TS according to karyotype; and report related complications at most recent follow up.Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.<p clas...
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hrp0086p2-p837 | Syndromes: Mechanisms and Management P2 | ESPE2016

Abstract withdrawn...
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hrp0086p2-p838 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in Korean Girl

Nam Hyo-Kyoung , Nam Myung-Hyun , Rhie Young-Jun , Lee Kee-Hyoung

Background: Marfan syndrome is one of the most common over-growth conditions and the cardinal features occur in ocular, skeletal and cardiovascular systems. Clinical variation is common and signs are age-dependent.Case: A 9-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes plenus. Dil...
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hrp0086p2-p839 | Syndromes: Mechanisms and Management P2 | ESPE2016

Evaluation of Referrals for Short Stature to a Regional Paediatric Centre

Yue David , Clarson Cheril

Background: Referrals to pediatric endocrine clinics for short stature are common. Height velocity (HV) is an essential component of the evaluation of short stature as growth deceleration often reflects an underlying pediatric endocrine diagnosis (PED). Access to previous measurements facilitates prompt calculation of HV.Objective and hypotheses: To determine availability of previous measurements at time of referral for short stature, to characterize PED...
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hrp0086p2-p840 | Syndromes: Mechanisms and Management P2 | ESPE2016

Testosterone Therapy Improves the First Year Height Velocity in Adolescent Boys with Constitutional Delay of Growth and Puberty

Giri Dinesh , Patil Prashant , Blair Jo , Das Urmi , Ramakrishnan Renuka , Dharmaraj Poonam , Didi Mohammed , Senniappan Senthil

Background: Constitutional Delay of Growth and Puberty (CDGP) is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed bone age and pubertal delay. CDGP can cause significant psychological stress and anxiety in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity is not widely reported.Obj...
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hrp0086p2-p841 | Syndromes: Mechanisms and Management P2 | ESPE2016

Safety and Efficacy of Growth Hormone (GH) in Combination with the Gonadotrophin Releasing Hormone Agonist Leuprorelin in Pubertal Children with Idiopathic Short Stature

Benabbad Imane , Tauber Maite , Rosilio Myriam , Paris Emmanuel , Berggren Lovisa , Patel Hiren , Carel Jean-Claude

Background: Due to delays in diagnosis of Idiopathic Short Stature (ISS), puberty has often started when Growth Hormone (GH) is initiated.Objective and hypotheses: To compare GH+leuprorelin (GH+L) with GH alone in patients with ISS and at Tanner puberty stage 2 or 3. We hypothesised that co-administration of GH+L for 2–3 years would delay puberty, prolong GH efficacy and increase adult height.Method: A phase 3, randomised, ope...
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hrp0086p2-p842 | Syndromes: Mechanisms and Management P2 | ESPE2016

Linear Growth in Infants and Children with Atopic Dermatitis

Ehlayel Mohamed , Soliman Ashraf

Introduction: Skin barrier defects play central role in the pathogenesis of atopic dermatitis (AD) affecting local immunity and skin hydration. Severe AD may deleteriously affect growth and nutrition in these children.Objectives: To 1) measure the effect of AD on linear growth in infants and children 2) to study the effect of hypoalbuminemia and hypo-proteinemia on the growth of these children.Methods: We studied linear growth and ...
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hrp0086p2-p843 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Specific Pubertal Height Gain is Higher in Boys as Well as in Children with Lower BMISDS

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

Background: Growth in height during puberty can be described by the QEPS-model as a combination of continuous basal growth, QES, and a specific pubertal growth function, P.Objective and hypotheses: To study the relationship between childhood BMISDS and the prepubertal gain and pubertal gain related to growth functions from the QEPS-model.Method: The longitudinally followed GrowUpGothenburg 1990 birth co...
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hrp0086p2-p844 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Screening in Children Aged Three to Five Years Seen in Community Paediatrics in Dreux District, France: Preliminary Results

Kayemba-Kay's Simon , Brin Isabelle , Nicot Florence , Maillet Odile , Roudiere Jean-Louis , Nicola Luigi Di , Heron Anne

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...
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hrp0086p2-p845 | Syndromes: Mechanisms and Management P2 | ESPE2016

The 3M Syndrome: A Cause of Pre- and Post-Natal Severe Growth Retardation

Genens Mikayir , Altunoglu Umut , Bas Firdevs , Poyrazoglu Sukran , Abali Zehra Yavas , Bundak Ruveyde , Darendeliler Feyza

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...
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hrp0086p2-p846 | Syndromes: Mechanisms and Management P2 | ESPE2016

Should We Construct Specific Growth Charts for Ethnic Subgroups?

Pop Raluca-Monica , Pascanu Ionela Maria

Background: Romania has a 3.3% Rromanes population according to the latest census, but no specific growth charts for this ethnic minority. Current national protocol recommends using the Swiss growth charts developed in 1989. Specific growth charts exist for ethnic subgroups like Turks in Germany and the Netherlands.Objective and hypotheses: A comparison between a Rromanes and a Romanian group of children regarding weight and height disturbances’ pre...
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hrp0086p2-p847 | Syndromes: Mechanisms and Management P2 | ESPE2016

Late Presenting Girls with Turner Syndrome can Achieve a Normal Final Height

Sakka Sophia , Shaw Nick , Kirk Jeremy

Background: The diagnosis of turner syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosis and treatment there still remain patients with TS who present late with delayed puberty. Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypotheses: To assess the effect of late GH ...
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hrp0086p2-p848 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth of Children Born Preterm During the First 8 Years of Life

Cardoso-Demartini Adriane , da Silva Regina Cavalcante , de Lara Francisca , Boguszewski Margaret

Background: Approximately 15 million children are born preterm worldwide yearly.Objective and hypotheses: To evaluate spontaneous growth during the first 8 years of life.Hypotheses: Preterm born children have spontaneous recovery of weight and height in the first 8 years of life.Method: Measurements at birth, 6, 12 and 24 months of corrected age and at recall [6.4±0.5 years (5.2–8.0)]. Weight, lengt...
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hrp0086p2-p849 | Syndromes: Mechanisms and Management P2 | ESPE2016

Genetic Variability in Patients with Noonan Syndrome in the Republic of Macedonia

Kocova Mirjana , Sukarova-Angelovska Elena , Kacarska Rozana , Lee Beom Hee , Kim Jae-Min

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...
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hrp0086p2-p850 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Cause of Short Stature in a Phenotypic Male with Type I Diabetes Mellitus due to an Unexpected Deletion of the Y Chromosome

Giri Dinesh , Ghatak Atrayee , Landes Caren , Ramakrishnan Renuka

Background: Short stature homeobox (SHOX) gene, located on the pseudoautosomal region of the sex chromosome plays an important role in the development of skeleton and its mutations/deletions can cause skeletal dysplasias.Objective and hypotheses: We report a male, with Type I Diabetes (T1DM) with Y chromosome deletion and short stature due to the concurrent loss of SHOX.Method: A 15-year-old boy with T1DM for 6 years was referred f...
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hrp0086p2-p851 | Syndromes: Mechanisms and Management P2 | ESPE2016

An Unusual Case of Growth Hormone Replacement Therapy in a Child with Hereditary Multiple Exostoses and Growth Hormone Deficiency

Xatzipsalti Maria , Polychroni Ioulia , Fryssira Elena , Stamoyannou Lela

Background: Hereditary multiple exostoses (HME) is an autosomal dominant heritable disorder characterized by exostoses located mainly in the long bones of extremities. HME is caused by mutations in two genes: EXT1, EXT2.Objective and hypotheses: Growth hormone (GH) deficiency is very rare in children with HME and GH replacement therapy has not been well described.Method: A 12.5 years old girl was referred to our Department because ...
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hrp0086p2-p852 | Syndromes: Mechanisms and Management P2 | ESPE2016

Assessment of the Medical and Psychological Status of Women with Turner-Syndrome in Young Adulthood

Ertl Diana-Alexandra , Culen Caroline , Schubert Katharina , Raimann Adalbert , Haeusler Gabriele

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...
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hrp0086p2-p853 | Syndromes: Mechanisms and Management P2 | ESPE2016

A 3-year-old Boy with Growth Hormone Deficiency and Clinical Features of Ritscher–Schinzel Syndrome

Galcheva Sonya , Iotova Violeta , Bocheva Yana , Stoeva Iva , Tincheva Radka , Georgiev Radoslav , Marinov Lachezar

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a very rare recently delineated disorder with Dandy-Walker malformation, congenital heart defects and dysmorphic craniofacial features; however, the full spectrum of this disorder has not been determined.Objective and hypotheses: To present a patient with short stature and growth hormone (GH) deficiency as a part of the clinical manifestations of Ritscher-Schinzel syndrome.<p class="abstext...
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hrp0086p2-p854 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Pattern, Response to GH Treatment and the Effects of Pubertal Spurt on Final Height in Patients Affected by RASopathies

Tamburrino Federica , Scarano Emanuela , Perri Annamaria , Casto Celeste , Maltoni Giulio , Mazzanti Laura

Background: Reduced growth is a common feature in RASopathies. Poor data are available about pubertal spurt and the effect on final height (FH) in patients with these disorders.Objective and hypotheses: To study growth, body proportions, pubertal pattern, and FH including subject treated with GH-therapy for proven GH deficiency.Method: We analized growth trend and body proportions in 88 patients affected by RASopathies with molecul...
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hrp0086p2-p855 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Usefulness of Magnetic Resonance Imaging of the Heart and Aorta in the Diagnostic Work-up in Girls with Turner Syndrome

Obara-Moszynska Monika , Rozmiarek Szymon , Lanocha Magdalena , Kociemba Anna , Rabska-Pietrzak Barbara , Janus Magdalena , Siniawski Andrzej , Mrozinski Bartlomiej , Niedziela Marek , Pyda Malgorzata

Background: Congenital heart defects are found in 50% of girls with Turner syndrome (TS). The evaluation of cardiovascular system is an important element in the diagnostic work-up of TS and is of particular significance of cardiologic monitoring, safety aspects of rGH treatment and any pregnancy planning.Objective and hypotheses: Assess the cardiovascular system in TS girls with magnetic resonance imaging of the heart and aorta (CMR and angioMR).<p c...
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hrp0086p2-p856 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Rare Cause of Short Stature: Patient with 3M Syndrome Revealed a New Mutation in Osbl1 Gene

Keskin Melikşah , Sahin Nursel Muratoglu , Kurnaz Erdal , Bayramoglu Elvan , Erdeve Senay Savas , Aycan Zehra , Cetinkaya Semra

The 3M syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features and skeletal abnormalities with normal intelligence. A-one year and four month-female patient had been reffered to our clinic for growth and developmental delay. Case history revealed a birth weight of 1740 grams on 39th week of gestation, with 42 cm body height and no prior hereditary conditions of clinical significance in her family. On physical examination, her height was 67 cm ...
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hrp0086p2-p857 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Case of Familial Silver-Russell Syndrome

Hoppmann Julia , Netchine Irene , Eggermann Thomas , Jamra Rami Abou , Kiess Wieland , Pfaffle Roland

Background: Silver-Russell syndrome (SRS) is a heterogeneous condition characterized by intrauterine growth restriction, relative macrocephaly at birth, postnatal growth retardation, body asymmetry, feeding difficulties/ low body mass index and dysmorphic craniofacial features. SRS is caused by DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1) on chromosome 11p15 or maternal uniparental disomy of chromosome 7 (mUPD7) in approximately 50% and 10%, respectivel...
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hrp0086p2-p858 | Syndromes: Mechanisms and Management P2 | ESPE2016

Central Precocious Puberty in a Case of SOTOS Syndrome

Lim Sharon

Background: Statural overgrowth in SOTOS syndrome is well recognised. However excessive growth away from the usual growth trajectory should prompt assessment for other causes of growth acceleration.Case: TE was referred for a growth assessment at 6.8 years as he appeared to have grown more in the previous year. He was 142.9 cm (Ht SDS +4.32), weight 44.4kg (BMI SDS +2.85). He had no formal genetic diagnosis except that he was clearly dysmorphic with glob...
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hrp0086p2-p859 | Syndromes: Mechanisms and Management P2 | ESPE2016

Hypoglycaemia in Isolated GH Deficiency beyond Infancy

Šimic-Schleicher Gunter

GH deficiency (GHD) associated hypoglycaemia in infancy is an indication for GH treatment, although it is described in GHD1in older children. At that time, GH is prescribed in GHD for short stature. Here, two children are described in whom hypoglycaemia is the main reason to treat with GH. Patient one had hypoglycaemic seizures due to GHD in infancy. GH treatment was stopped with 5.5 y for reassessment. Growth rate diminished and hypoglycaemias occurred. Treatment of GH was re...
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hrp0086p2-p860 | Syndromes: Mechanisms and Management P2 | ESPE2016

Referral Pattern of Children with Short Stature to a Pediatric Endocrine Clinic in Kuwait

Al-Abdulrazzaq Dalia , Al-Taiar Abdulla , Hassan Kholoud , Al-Twari Basma , Al-Osaimi Abdulaziz , Al-Busairi Iman

Background: Short stature is a prominent complaint for which children are referred to pediatric endocrinologists. Data on short stature is lacking in the Arab states in the gulf region despite the fact that treatment is easily accessible. The study aimed to describe the referral pattern, baseline characteristics, and etiological profile of children referred with short stature to a pediatric endocrine clinic in Kuwait.Method: This is a cross-sectional ret...
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hrp0086p2-p861 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Effect of Iron Intervention on the Anthropometric Parameters: Pilot Study among Egyptian Preschool Children with Iron Deficiency Anemia

Ibrahim Amany , Atef Abeer , Magdy Rania , Farag Mohamed

Background: Iron deficiency anemia (IDA) causes detrimental effects on physical growth which is attributed to poor appetite, altered endocrinologic profile and neurotransmitter metabolism consequent to iron deficiency.Objective and hypotheses: To investigate the iron status of preschool children with IDA and its association with the degree of growth retardation at presentation, and to detect the effect of iron supplementation on growth velocity (GV) over...
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hrp0086p2-p862 | Syndromes: Mechanisms and Management P2 | ESPE2016

Dopamine Beta-Hydroxylase Deficiency Leading to Growth Hormone Deficiency

Doneray Hakan , Ozden Ayse , Yesilcibik Remziye Seda

Background: Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function. DBH deficiency is a congenital disorder; however, the diagnosis is not generally recognized until late childhood. In this report, we present a case with DBH deficiency leading to growth hormone deficiency.Case: A ten year old girl who has b...
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hrp0086p2-p863 | Syndromes: Mechanisms and Management P2 | ESPE2016

Quality of Life in Growth Hormone Treated Children and Adolescents with Growth Hormone Deficiency and Smallness for Gestational Age

De Schepper Jean , Van der Straaten Saskia , Reynaert Nele , France Annick , Gies Inge , Parent Anne-Simon , Beauloye Veronique , Massa Guy , Beckers Dominique , Heinrichs Claudine , Logghe Karl , Depoorter Sylvia , Thomas Murielle , Verlinde Franciska , Vanderfaeillie Johan

Background: The potential benefit of growth hormone (GH) therapy on health-related QOL (HQoL) of children with short stature related to GH deficiency (GHD) or smallness for gestational age (SGA) has not been well documented.Objective and hypotheses: Our objective was to assess potential disease and treatment related predictors for a poor HQoL in GH treated children. Children with male gender, SGA disorder, greater height deficit at start of GH and poor h...
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hrp0086p2-p864 | Syndromes: Mechanisms and Management P2 | ESPE2016

Secretion of Somatostatin and Growth Hormone (GH) in Various Forms of Hereditary Pathology

Muhamedov R.S. , Ibragimova N. Sh. , Dalimova D.

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...
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hrp0086p2-p865 | Syndromes: Mechanisms and Management P2 | ESPE2016

Postnatal Growth and Factors Modifying it in Very Low Birth Weight Preterms (PT) with Bronchopulmonary Dysplasia (BPD)

Abushahin Ahmed , Alnaimi Amal , Soliman Ashraf

Background: Different severities of bronchopulmonary dysplasia (BPD) may adversely affect postnatal growth of small preterm infants (PT).Objective: To measure postnatal growth data for 69 (39 F, 30 M) preterms with BPD.Method: We studied growth parameters of 69 PT with BPD for 16±3 months postnatally. 40 had mild, 20 had moderate and 9 had severe BPD.Results: 96% of infants were appropriate for gestation...
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hrp0086p2-p866 | Syndromes: Mechanisms and Management P2 | ESPE2016

Endocrine and Metabolic Parameters before Onset of rGH Treatment: Potential Predictive Factors of GH Response in Children Born SGA? Results from Cohort of Nancy

Renard Emeline , Legagneur Carole , Auger Julie , Lebon-Labich Beatrice , Baumann Cedric , Leheup Bruno

Background: In spite of many studies demonstrating efficiency of recombinant growth hormone (rGH) on adult height in children born small for gestational age (SGA), great variability of response exists between treated patients. Predictive factors have been already studied such as age at start of treatment, rGH dose,…, but few data are available regarding the predictive values of pretherapeutic data on growth response.Objective and hypotheses: The ma...
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hrp0086p2-p867 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Hormone Treatment in a Child with Trisomy 21 and Turner Mosaicism

Lim Sharon

Background: Short stature occurs in Trisomy 21 but it is relatively slight during childhood. Turner syndrome would contribute significantly to short stature but the combined occurrence of both syndromes, even Turner mosaicism is unusual and could result in significant short stature.Case: SP was referred for a growth assessment at 2.5 years. Her parents were counselled about short stature occurring in both syndromes but were worried that her height was si...
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hrp0086p2-p868 | Syndromes: Mechanisms and Management P2 | ESPE2016

Pubertal Development and Final Height in Some Rare Genetic Diseases

Mazzanti Laura , Casto Celeste , Tamburrino Federica , Perri Annamaria , Guidetti Monica , Emanuela Scarano

Background: Pubertal growth, age of puberty onset and pubertal spurt duration are correlated to final height (FH). Few data are available in subjects with rare genetic syndromes.Objective and hypotheses: To evaluate pubertal pattern and its influence on FH in subjects with different genetic syndromes including the effect of GH-therapy for GH deficiency (GHD) and GnRH analogs for precocious puberty (PP).Method: We studied for growth...
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hrp0086p2-p869 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Hormone Deficiency in a Patient with Ring Chromosome 18

Korpal-Szczyrska Maria , Mysliwiec Malgorzata

Background: Ring chromosome 18 [r (18)] syndrome belongs to a rare group of chromosomal abnormalities (only about 70 cases reported). The association of r(18) and growth hormone deficiency (GHD) is extremely rare (3 descriptions with different responds to GH treatment). Patients with r(18) syndrome are characterized by short stature, obesity, microcephaly, mental retardation, hypertelorism, epicanthic folds, micrognatia and small hands with short tapering fingers. Also atypica...
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hrp0086p2-p870 | Syndromes: Mechanisms and Management P2 | ESPE2016

Children with Down’s Syndrome Show Quantitative, Phenotypical and Functional Differences of Effector T-Cells Compared to Immunocompetent Controls

Schoch Justine , Schmidt Tina , Jung Anna-Maria , Kastner Michael , Abdul-Khaliq Hashim , Gortner Ludwig , Sester Martina , Rohrer Tilman

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...
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hrp0086p2-p871 | Syndromes: Mechanisms and Management P2 | ESPE2016

Cardiovascular Anomalies in Turner Syndrome

Haddam Ali El Mahdi , Fedala Nora Soumeya , Meskine Djamila

Background: Turner syndrome (TS) has several defects affecting different organs. Heart defects are the most common. They can be symptomatic (Heart murmur, high blood pressure) or diagnosed systematically. The chromosomal profile affects the nature of the anomalies encountered.Objective and hypotheses: Report cardiac abnormalities in the ST.Method: This is a retrospective study of 60 TS patients identified in 20 years. Mean age was ...
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hrp0086p2-p872 | Syndromes: Mechanisms and Management P2 | ESPE2016

Metamemory in Turner Syndrome: A Study Comparing Episodic and Semantic Memory

Souchay Celine , Gourisse Laurene , Brigitte Mignot , Magali Avila , Bertrand Anne-Marie , Faivre Laurence

Background: Tuner syndrome (TS) is associated with a distinctive cognitive profile including memory impairments. The current study focuses on metamemory defined as our knowledge about our memory functioning and yet never been explored in TS.Objective and hypotheses: The aim of this preliminary study is thus to determine what patients with TS know about their memory functioning and when their memory is impaired whether or not they are aware of those defic...
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hrp0086p2-p873 | Syndromes: Mechanisms and Management P2 | ESPE2016

A XO/XX Girl with Lack of Morphological UTS-Features, Short Stature and Precocious Puberty

Vogel Birgit , Šimic-Schleicher Gunter

Background: Ullrich-Turner-Syndrome is usually characterized by typical morphological features. Short status, delayed bone age in childhood and gonadal dysgenesis with delayed or lacking pubertal development, amenorrhoea and infertility. Other symptoms like thyroid dysfunction, heart defects, diabetes, behavioural or learning problems vary. The genotype/phenotype correlation may be poor. Especially in UTS mosaicism, spontaneous puberty may occur.Objectiv...
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hrp0086p2-p874 | Syndromes: Mechanisms and Management P2 | ESPE2016

Transverse Myelitis in Turner Syndrome

Kopacek Cristiane , Vieira Stefania , Capelo Liana , Quadros Fernanda , Kieling Renata , Da Silva Cleber Alvares

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...
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hrp0086p2-p875 | Syndromes: Mechanisms and Management P2 | ESPE2016

Tricho-Rhino-Phalangeal Syndrome Type I in a Girl with Growth Hormone Deficiency

Cakir Meltem Didem , Altintas Zuhal , Bozdogan Sevcan Tug

Tricho-rhino-phalangeal syndrome Type I (TRPS I) is a rare autosomal dominant genetic disorder clinically characterized by craniofacial and skeletal abnormalities, associated with cone-shaped epiphyses, brachydactyly and short stature. Although patients with TRPS I present various degrees of short stature, there are only four reports of growth hormone deficiency in patients with TRPS I. We present the case of TRPS I and partial GH deficiency. A 15-year-old female was referred ...
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hrp0086p2-p876 | Syndromes: Mechanisms and Management P2 | ESPE2016

Project Epi Peg-Premeb. Clinical Situation of a Person Born SGA Followed from Birth Cohort. GLOBAL Causes and Clinical Situation of Partial Birth Cohort and 12 Months

Diez-Lopez Ignacio , Sarasua Ainhoa , Hoyo Marta del , Lorente Isabel , de Segura Raquel Gomez , Perez Dorleta , Picon Minerva , Macarulla Maria Teresa , Rodriguez Bittor

Up to 50% of children born SGA to 2 years have not made a proper catch up (by excess or defect), with repercussions in size, metabolic and cardiovascular disorders, DM, etc. epiPEG-PreMeb project to study during their first two years of life.Goals:: Establish a SGAcohort for monitoring, evaluation catch-up, and analysis of medium-environmental and social factors. To study the influence of these variables on clinical, laboratory and metabolic profiles. So...
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hrp0086p2-p877 | Syndromes: Mechanisms and Management P2 | ESPE2016

Pituitary Gigantism and Central Precocious Puberty Presenting with Prognathism in a Pediatric Patient

Minutti Carla , Idrovo Alexandra

Case Report: A 13-year old male presented to a dental office for evaluation of prognathism. After evaluation, his dentist referred him to pediatric endocrinology. He had no significant past medical history. He denied any signs or symptoms associated with any hormonal deficit or excess, as well as headaches or visual disturbances. Denied excessive growth of hands or feet. Parents reported that he had been having pubic and axillary hair, mild acne, and significant growth for the...
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hrp0086p2-p878 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Monitoring of Endocrine Functions in Children with Rare Genetic Syndromes

Akulevich Natallia , Makarova Yulia , Boiko Giulia , Solntseva Anzhelika , Khmara Irina

Background: Children with rare genetic disorders may have different endocrine problemsObjective and hypotheses: To present 4 paediatric patients (3 M, 1 F) aged 4.3 – 16.9 y.o. (mean age 11±5.5 years) with different genetic syndromes: Pallister-Hall, Holt-Oram, Ellis–van Creveld and Marshall.Method: Retrospective study.Results: Mean age of diagnosis was 5.3±2.7 y.o. All children had growth...
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hrp0086p2-p879 | Syndromes: Mechanisms and Management P2 | ESPE2016

SHORT Syndrome and rhGH Treatment – Is It Useful?

Armasu Ioana , Crumpei Iulia , Vasiliu Ioana , Rusu Cristina , Braha Elena , Zetu Irina , Raileanu Daniela , Preda Cristina , Vulpoi Carmen

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...
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hrp0086p2-p880 | Syndromes: Mechanisms and Management P2 | ESPE2016

Late Diagnosis of Mixed Gonadal Dysgenesis – Clinical and Psychological Implications

Puiu Mirela , Bursuc Anamaria , Belceanu Alina , Constantinescu Georgiana , Zmau George , Anton Mihaela , Crumpei Felicia , Vulpoi Carmen

Background: Mixed gonadal dysgenesis (MGD) is a disorder of sex development associated with a numerical sex chromosome abnormality. Reported genital phenotypes range from female external genitalia or mild clitoromegaly through all stages of ambiguous genitalia to hypospadias or a normal penis, depending on the proportion of monosomic cells.Case presentation: 18 years old girl, with a history of hypertension, ventricular septal defect and obesity presente...
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hrp0086p2-p881 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Structure of Genetically Determined Types of Short Stature in Uzbekistan According to Retrospective Analysis

Ibragimova N.Sh. , Dalimova D.A. , Mirkhaidarova M.

Background: Stunting in children is a heterogeneous state. Many endocrine, somatic, genetic and chromosomal diseases are accompanied by stunting. It can adversely affect indicators of the final height of the child; therefore timely diagnostics and treatment stunting is very important.Objective and hypotheses: To carry out a retrospective analysis of case histories of children and adolescents with genetically determined types of short stature who admitted...
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hrp0086p2-p882 | Syndromes: Mechanisms and Management P2 | ESPE2016

Evaluation of Growth Pattern in Prader-Willi Syndrome

Gunes Sevinc Odabasi , Ergur Ayca Torel , Katircioglu Mehmet , Bulbul F. Selda

Background: The main reason of decrement of growth in children with Prader-Willi Syndrome (PWS) is dysfunction of hypothalamo-hypophseal axis (HHA) and a decrease in the capacity of secretion of growth hormone (GH). In fact, in some cases, GH levels are normal, so there may be other factors in the etiology.Objective and hypotheses: In this study, 19 months old PWS case with growth failure is represented.Method: 13 months old male p...
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hrp0086p2-p883 | Syndromes: Mechanisms and Management P2 | ESPE2016

Prader-Willi Syndrome – Different Patients, Different Attitude

Bursuc Anamaria , Belceanu Alina , Armasu Ioana , Constantinescu Georgiana , Leustean Letitia , Rusu Cristina , Boisteanu Daniela , Vulpoi Carmen

Introduction: Prader-Willi Syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2–q13, characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity and endocrine dysfunctions as hypogonadism and GH deficiency (GHD).Cases report: We present 3 cases: 2 females and 1 male with specific clinical features...
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