Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
30 participants
OBSERVATIONAL
2020-02-01
2024-12-01
Brief Summary
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Objective: The hormonal range of LH, FSH, AMH, inhibin B, testosterone and estradiol in girls with TS during the minipuberty and the relation of the hormone serum levels with the karyotype.
Study design: A prospective, cohort study with a duration of 3 years. Study population: Girls with a pre- or perinatal diagnosis TS who are born in a medical centre in the Netherlands during the duration of the study
Main study parameters/endpoints: Serum levels of FSH, LH, AMH, inhibin B, testosterone and estradiol at the age of 3 and 9 months.
Detailed Description
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The subjects will have twice an extra venapunction for collection of 3.5mL blood during their infancy, which is not stated in the guidelines for TS. There is very little risk for adverse events associated with this blood sample collection, however it is an extra procedure. The outcome parameters will not be helpful for individual study participants, however they are likely to help clinicians and researchers in understanding how the ovarian function operates develops in girls with TS. Furthermore, these markers could be used to estimate the ovarian reserve and the urgency of fertility preservation in young females with TS. This information could help clinicians, patients and their parents in decision making.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Girls with Turner syndrome
Girls with a pre- or perinatal diagnosis TS who are born in a medical centre in the Netherlands during the duration of the study.
The subjects will have an extra venapuncture of 3.5 mL blood at 3 and 9 months.
Venapunction
A blood sample of 3.5 mL (0.2 mL serum for FSH and LH, 0.15 mL serum for E2, 0.15 mL serum for T, 0.15 mL serum for AMH and 0.25 mL serum for Inhibin B) will be collected of all girls with TS at 3 months and 9 months of age. For the girls with TS, this will be collected with an extra venapuncture during a regular outpatient visit within the usual care.
Interventions
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Venapunction
A blood sample of 3.5 mL (0.2 mL serum for FSH and LH, 0.15 mL serum for E2, 0.15 mL serum for T, 0.15 mL serum for AMH and 0.25 mL serum for Inhibin B) will be collected of all girls with TS at 3 months and 9 months of age. For the girls with TS, this will be collected with an extra venapuncture during a regular outpatient visit within the usual care.
Eligibility Criteria
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Inclusion Criteria
* A diagnosis of TS before the age of three months;
* Girls with a diagnosis of classic TS or other variants (i.e. 45,X, 45,X/46XiXq, 45,X/46,XY, 45,X/46,XX, 45,X/47,XXX, 45,X/46,X,r(X), 46,XiXq, other);
* Whose parents have agreed to participate in the study through a signed written informed consent form.
In order to be eligible to participate in the control group of this study, a subject must meet all of the following criteria:
* No diagnosis of TS or any other diagnosis that might affect the HPG axis;
* Girls that will have a blood collection within their usual care at 3 months and at 9 months of age.
* Whose parents have agreed to participate in the study through a signed informed consent form.
Exclusion Criteria
* Any other diagnosis besides TS that might affect the HPG axis;
* Ovarian surgery in the medical history;
* Critical illness;
* The use of medication affecting the HPG axis (e.g. estrogen suppletion therapy)
1 Month
3 Months
FEMALE
Yes
Sponsors
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Radboud University Medical Center
OTHER
Responsible Party
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Principal Investigators
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Janielle vd Velden, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Paediatric endocrinologist, Radboudumc, Nijmegen
Locations
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Righospitalet, University of Copenhagen
Copenhagen, , Denmark
Universitätsklinikum der Ruhr-Universität Bochum
Bochum, , Germany
Justus-Liebig Universität Giessen
Giessen, , Germany
Universitätsklinikum Tübingen
Tübingen, , Germany
Radboud University Medical Center
Nijmegen, Gelderland, Netherlands
Amsterdam University medical center
Amsterdam, , Netherlands
University medical center Groningen
Groningen, , Netherlands
Leiden University medical center
Leiden, , Netherlands
Maastricht University medical center
Maastricht, , Netherlands
Erasmus University medical center
Rotterdam, , Netherlands
University medical Center Utrecht
Utrecht, , Netherlands
Medical university of Silesia
Katowice, , Poland
University hospital of Umea
Umeå, , Sweden
Countries
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Central Contacts
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Facility Contacts
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Casper Hagen
Role: primary
Annette Richter-Unruh
Role: primary
Ivonne Bedei
Role: primary
Gerhard Binder
Role: primary
Martijn Finken
Role: primary
Sabine Hannema
Role: backup
Gianni Bocca
Role: primary
Hester Vlaardingerbroek
Role: primary
Saartje Straetemans
Role: primary
Theo Sas
Role: primary
Annemarie Verrijn-Stuart
Role: primary
Aneta Gawlik
Role: primary
Malgorzata Wiecek
Role: backup
Berit Kriström
Role: primary
Elena Lundberg
Role: backup
References
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Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perriere A, Albarel F, Fevre A, Kerlan V, Brue T, Delemer B, Borson-Chazot F, Carel JC, Chanson P, Leger J, Touraine P, Christin-Maitre S; CMERC Center for Rare Disease. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome. Hum Reprod. 2016 Apr;31(4):782-8. doi: 10.1093/humrep/dew012. Epub 2016 Feb 13.
Borgstrom B, Hreinsson J, Rasmussen C, Sheikhi M, Fried G, Keros V, Fridstrom M, Hovatta O. Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles. J Clin Endocrinol Metab. 2009 Jan;94(1):74-80. doi: 10.1210/jc.2008-0708. Epub 2008 Oct 28.
Bryman I, Sylven L, Berntorp K, Innala E, Bergstrom I, Hanson C, Oxholm M, Landin-Wilhelmsen K. Pregnancy rate and outcome in Swedish women with Turner syndrome. Fertil Steril. 2011 Jun 30;95(8):2507-10. doi: 10.1016/j.fertnstert.2010.12.039. Epub 2011 Jan 22.
Burgoyne PS, Baker TG. Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. J Reprod Fertil. 1985 Nov;75(2):633-45. doi: 10.1530/jrf.0.0750633.
Fechner PY, Davenport ML, Qualy RL, Ross JL, Gunther DF, Eugster EA, Huseman C, Zagar AJ, Quigley CA; Toddler Turner Study Group. Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age. J Clin Endocrinol Metab. 2006 Dec;91(12):4896-902. doi: 10.1210/jc.2006-1157. Epub 2006 Sep 12.
Huang JY, Tulandi T, Holzer H, Lau NM, Macdonald S, Tan SL, Chian RC. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: Case Report. Hum Reprod. 2008 Feb;23(2):336-9. doi: 10.1093/humrep/dem307. Epub 2007 Dec 2.
Johannsen TH, Main KM, Ljubicic ML, Jensen TK, Andersen HR, Andersen MS, Petersen JH, Andersson AM, Juul A. Sex Differences in Reproductive Hormones During Mini-Puberty in Infants With Normal and Disordered Sex Development. J Clin Endocrinol Metab. 2018 Aug 1;103(8):3028-3037. doi: 10.1210/jc.2018-00482.
Lanciotti L, Cofini M, Leonardi A, Penta L, Esposito S. Up-To-Date Review About Minipuberty and Overview on Hypothalamic-Pituitary-Gonadal Axis Activation in Fetal and Neonatal Life. Front Endocrinol (Lausanne). 2018 Jul 23;9:410. doi: 10.3389/fendo.2018.00410. eCollection 2018.
Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner's syndrome. Italian Study Group for Turner's Syndrome. J Clin Endocrinol Metab. 1997 Jun;82(6):1810-3. doi: 10.1210/jcem.82.6.3970.
Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902. doi: 10.1210/jc.2006-0558. Epub 2006 Jul 18.
Sutton EJ, McInerney-Leo A, Bondy CA, Gollust SE, King D, Biesecker B. Turner syndrome: four challenges across the lifespan. Am J Med Genet A. 2005 Dec 1;139A(2):57-66. doi: 10.1002/ajmg.a.30911.
Other Identifiers
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2019-5955
Identifier Type: -
Identifier Source: org_study_id