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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p3-1233 | Turner | ESPE2015

Growth Curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Darendeliler Feyza , Bereket Abdullah , Bas Firdevs , Bundak Ruveyde , Sari Erkan , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Mazicioglu Mumtaz M , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Simsek Enver , Cinaz Peyami , Group Turner Syndrome Study

Background: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population specific growth charts for TS.Objective and hypotheses: Considering national and ethnic differences, we undertook this multicentered collaborative study to construct growth charts and reference values for height, weight, and BMI from birth to adulthood for spontaneous growth of Turkish girls w...

hrp0084p3-1234 | Turner | ESPE2015

Cardiovascular Assessment in Turner Syndrome: Current Practice in the United Kingdom

Mason A , Smyth A , Ahmed S F , Wong S C

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

hrp0084p3-1235 | Turner | ESPE2015

Turner Syndrome in Iceland 1968–2012: Congenital Anomalies and Clinical Outcomes

Sigmarsdottir Arndis A , Johannsson Johann H , Sigurjonsdottir Helga A , Thorsson Arni V

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

hrp0084p3-1236 | Turner | ESPE2015

A Comparison of Efficacies between rhGH and rhGH Combined with Stanozolol Therapies in Growth of the Girls with Turner Syndrome

Li Dan , Chen Hongshan , Du Minlian , Li Yanhong , Chen Qiuli , Ma Huamei , Zhang Jun

Objective and hypotheses: To compare the different efficacies between recombinant human GH (rhGH) alone and rhGH combined with low does stanozolol on improving growth of the girls with Turner syndrome (TS).Method: TS girls were divided into two groups. Group 1 (15 cases) received rhGH therapy, aged (13.09±2.70) years, bone age (11.00±1.01) years, height was (131.46±8.22) cm. Group 2 (22 cases) received low does stanozolol combined with rhG...

hrp0084p3-1237 | Turner | ESPE2015

Clinical Features and Genetic Considerations of Turner Syndrome: A Review of Our Cases

Berrade Sara , Chueca Maria , Zarikian Sada , Mosquera Arantxa , Ulibarrena Noelia , Sola Alberto , Garcia Cristina , Oyarzabal Mirentxu

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

hrp0084p3-1238 | Turner | ESPE2015

Growth Characteristics of Patient with Turner Syndrome Different Age and Karyotypes by the Ukrainian National Register

Zelinska Nataliya , Shevchenko Irina , Globa Evgenia , Pogadaeva Nataliya

Background: Turner syndrome (TS) is the most well-known and common chromosomal disorder accompanied by delayed growth. According to the Ukrainian national register (UNR) of children with dwarfism the growth retardation is common for all girls with TS.Objective and hypotheses: The aim of the study was to determine the growth parameters of TS girls different age and karyotype, before GH treatment.Method: According to the UNR it was p...

hrp0084p3-1239 | Turner | ESPE2015

Nationwide Study of Turner Syndrome in Ukraine

Zelinska Nataliya , Shevchenko Irina , Globa Evgenia , Pogadaeva Nataliya

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.Method: We analysed ...

hrp0084p3-1240 | Turner | ESPE2015

Patients with Turner’s Syndrome Should Have Ophthalmological Examination before Commencing Recombinant GH Treatment

Alsaffar Hussain , Thomason Eleanor , Blair Joanne , Didi Mohammed

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

hrp0084p3-1241 | Turner | ESPE2015

Renal Problems in Early Adult Patients with Turner Syndrome

Chung Woo Yeong , Oh Seung Hwan , Yu Dong Uk

Introduction: The prevalence of renal anomalies in Turner syndrome (TS) has been reported to vary from 30 to 70%. However, the influence of renal anomalies on renal function and morbidity have been less well investigated. We evaluate the status of renal function and the presence of urinary abnormalities in early adult TS patients.Patients and method: Sixty-three girls with TS, who are attending Pediatric Endocrine Clinics in Busan Paik Hospital, were stu...

hrp0084p3-1242 | Turner | ESPE2015

To Predict Ovarian Function is a Single Determination of AMH Useful in Patients with Turner Syndrome?

Piona Claudia Anita , Cavarzere Paolo , Gaudino Rossella , Ben Sarah Dal , Ramaroli Diego , Gelati Matteo , Guidi Gian Cesare , Salvagno Gian Luca , Antoniazzi Franco

Background: Different studies have underlined the role of anti-Müllerian hormone (AMH) and inhibin B as markers of the ovarian function in paediatric and adolescent patients with Turner syndrome (TS).Objective and hypotheses: Our study aims to verify the role of AMH in a cohort of patients affected by TS.Method: We analysed 23 TS patients, aged 2–34 years, describing their auxological parameters and the pubertal developme...

hrp0084p3-1243 | Turner | ESPE2015

Anthropometric Findings from Birth to Adulthood in Turkish Girls with Turner Syndrome and Association with Karyotpye Distribution

Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu K , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet E , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ercan Oya , Study Group Turner Syndrome

Background: Turner syndrome (TS) can manifest with various clinical features depending on the karyotype and the genetic background of affected subjects.Objective and hypotheses: The aim of this study was to evaluate growth parameters from birth to adulthood in girls with TS in a cross-sectional study.Method: A total of 842 patients, with an age of diagnosis ranging from birth to 18 years followed-up between 1984 and 2014, from 35 d...

hrp0084p3-1244 | Turner | ESPE2015

GH Therapy in Turner Syndrome

Galesanu Corina , Loghin Andra Iulia , Ungureanu Didona , Galesanu Mihail Romeo

Background: Turner syndrome (TS) is one of the most common causes of short stature in females. Adult height of patients with TS is 20 cm shorter than in general population. GH therapy improves height outcome in girls with TS; results depend on age at diagnosis, duration of therapy, and doses of GH.Objective: To evaluate growth and safety during the first 4 years of GH treatment in patients with TS.Method: Eight prepubertal girls wi...

hrp0084p3-1245 | Turner | ESPE2015

A Rare Variant of Turner Syndrome: First Clinical Report from Kuwait

Mohamed Kholoud , Al-Abdulrazzaq Dalia

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).Method: This is a case report of a 12-y...

hrp0084p3-1246 | Turner | ESPE2015

Turner Syndrome with Breast Development: Case Report

Park Sung Won , Cho Sung Yoon , Kim Jinsup , Huh Rimm , Kim Su Jin , Jin Dong-kyu

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...