ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Volume 82 | ESPE2014 | Next issue

53rd Annual ESPE (ESPE 2014)

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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

Poster Presentations

Reproduction

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Reproduction (1)

hrp0082p1-d1-198 | Reproduction | ESPE2014

Stability Conditions in Estradiol Matrix Patches; in vitro Studies for Application in Pediatrics

Ankarberg-Lindgren Carina , Sas Theo

Background: We have previously shown that estradiol (E2) matrix patches for adults could be cut in smaller pieces to administer low doses for pubertal induction in girls with hypogonadism. With a slow increase of the patch size during a few years, serum E2 levels in normal girls undergoing puberty can be closely mimicked.Objective and hypotheses: To evaluate storage conditions once the patch has been cut.Metho...
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hrp0082p1-d1-199 | Reproduction | ESPE2014

Associations of Vascular Biomarkers and the Somatotrophic Axis with Carotid Ultrasound and Echocardiography Findings in Relation to Turner Arteriopathy

Ucar Ahmet , Oz Fahrettin , Bas Firdevs , Oflaz Huseyin , Nisli Kemal , Tugrul Melike , Darendeliler Feyza , Saka Nurcin , Poyrazoglu Sukran , Bundak Ruveyde

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...
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hrp0082p1-d1-200 | Reproduction | ESPE2014

Testes in Infants with Prader–Willi Syndrome: hCG Treatment, Surgery, and Histology

Bakker Nienke , Wolffenbuttel Katja , Looijenga Leendert , Hokken-Koelega Anita

Background: Boys with PWS often have unilateral or bilateral cryptorchidism. Prospective studies on the treatment of cryptorchidism in boys with PWS are lacking and there is no treatment consensus among pediatricians and urologists.Objective and hypotheses: We hypothesized that hCG treatment would lead to a scrotal position of the testes in infants with PWS and cryptorchidism. We therefore evaluated the effects of hCG treatment on testis position. Additi...
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hrp0082p1-d1-201 | Reproduction | ESPE2014

The Effect of 17β-Estradiol on Uterine Volume in Young Women with Turner Syndrome: a 5-Year Randomized Controlled Clinical Trial

Cleemann Line , Holm Kirsten , Fallentin Eva , Moller Nini , Kristensen Bent , Skouby Sven Oluf , Leth-Esbensen Per , Jeppesen Eva Mosfeldt , Gravholt Claus

Background: The majority of Turner syndrome (TS) girls need exogenous estrogen treatment to induce normal uterine growth. The optimal estrogen treatment protocol has not been determined.Objective and hypotheses: To compare the effect of two different dosing regimens of oral 17β-estradiol on uterine size with the hypotheses that most girls with TS would benefit from a higher dose.Method: A double-blind 5-year randomized control...
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hrp0082p1-d1-202 | Reproduction | ESPE2014

Genetic Markers in the Study of Chromosome Y in the Population of Girls with Turner Syndrome

Rojek Aleksandra , Obara-Moszynska Monika , Rabska-Pietrzak Barbara , Kolesinska Zofia , Niedziela Marek

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...
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hrp0082p1-d1-203 | Reproduction | ESPE2014

Girls with Turner Syndrome have Normal Muscle Force but Decreased Muscle Power

Soucek Ondrej , Lebl Jan , Matyskova Jana , Snajderova Marta , Kolouskova Stanislava , Pruhova Stepanka , Hlavka Zdenek , Sumnik Zdenek

Background: Turner syndrome (TS) associates with decreased bone mineral density and altered bone geometry, a risk factors leading to increased fracture rate. Although hypogonadism or SHOX gene haploinsufficiency are the probable causes, the exact mechanism remains unclarified. Particularly, the muscle function as an important determinant of bone strength has yet not been widely studied in TS patients.Objective and hypotheses: We hypothesised there is mus...
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hrp0082p1-d1-204 | Reproduction | ESPE2014

The Influence of GH Treatment on the Oral Disposition Index in Turner Syndrome Girls and in GH Deficient Children: 8 Years of Follow-Up

Baronio Federico , Lupi Fiorenzo , Siroli Benedetta , Longhi Silvia , Tamburrino Federica , Scarano Emanuela , Mazzanti Laura , Radetti Giorgio

Background: GH has been shown to influence glucose homeostasis through a negative effect on insulin sensitivity followed by a compensatory increase of insulin secretion. However it has been recently reported, in animals and in humans, that GH might stimulate insulin secretion also through a direct effect on the growth and on the function of the pancreatic β cell.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the ...
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hrp0082p1-d1-205 | Reproduction | ESPE2014

Abstract withdrawn....
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hrp0082p1-d1-206 | Reproduction | ESPE2014

Hypogonadotropic Hypogonadism in Patients with Congenital Adrenal Hypoplasia due to NR0B1 (DAX1) Mutations: Phenotype/Genotype Relationship

Niedziela Marek , Jamsheer Aleksander , Krawczynski Maciej R , Obara-Moszynska Monika , Rojek Aleksandra

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...
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hrp0082p1-d1-207 | Reproduction | ESPE2014

Analysis of the WDR11 Gene in Patients with Isolated Hypogonadotropic Hypogonadism with and without Olfactory Defects

Silveira Leticia FG , Montenegro Luciana R , Costa Elaine MF , Latronico Ana C

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...
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hrp0082p1-d1-208 | Reproduction | ESPE2014

GH Therapy in Turner Syndrome Patients: the Effects on Nutritional Status, Adipokines, and Aortic Dilatation

Magnuszewska Hanna , Gnacinska-Szymanska Maria , Wisniewski Piotr , Potaz Piotr , Birkholz-Walerzak Dorota , Korpal-Szczyrska Maria , Sworczak Krzysztof

Background: Turner syndrome (TS) patients are at increased obesity risk. Additionally body composition in TS is distinctly altered. The percentage of body fat mass (BFM) is higher. Also adipokine dysregulation is observed. TS is associated with aortic dilatation, which is seen not only in patients with congenital aortic defects but also in patients without underlying pathology. Considering different co-morbidities common in TS, it’s extremely important to evaluate wide sp...
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hrp0082p1-d1-209 | Reproduction | ESPE2014

Evaluation of Sitting Height/Height SDS in Patients with Turner Syndrome

Genens Mikayir , Kaya Gamze , Ulak Ceren Melis , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Saka Nurcin , Darendeliler Feyza

Background: Short stature and gonadal dysgenesis are the main characteristics in Turner syndrome (TS). There are conflicting reports about the body proportions in TS. Some studies described a proportionate short stature, whereas others reported disproportionately short legs. It is known that body proportions are genetically controlled and are different in different populations or ethnic groups.Objective and hypotheses: To evaluate body proportions assess...
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