An observational study in Turner Syndrome, Infertility, Female and Premature Ovarian Failure, sponsored by Radboud University Medical Center. Status unknown at 13 sites in 5 countries. Open to female participants aged 1 Month to 3 Months, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-11-29.
Sponsored by Radboud University Medical Center · Observational
Rationale: Due to accelerated germ cell loss, infertility is a major problem in girls with Turner syndrome (TS). Therefore, cryopreservation of ovarian tissue or oocytes before exhaustion of the ovarian reserve may preserve fertility in patients with TS. However, in the majority of females with TS , the ovarian reserve is exhausted before the age of menarche. Early markers indicating and predicting the ovarian reserve are necessary. During mid-childhood the hypothalamic-pituitary-gonadal (HPG) axis is quiescent and gonadotropins are usually unmeasurable. Nonetheless, this axis is active during infancy. Therefore, gonadotropins are measurable with peak values at 3 months of age and with lower (but still measurable) values at 9 months of age, in a period called the minipuberty. The aim of this study is to find markers of ovarian capacity, during the minipuberty, in order to predict ovarian reserve in the future.
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.
Nature and extent of the burden and risks associated with participation, benefit and group relatedness:
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.
119 studies on the registry are indexed under Turner Syndrome; 33 are open to participants now.
This study's planned enrollment of 30 is below the median of 125 across 65 observational studies indexed under Turner Syndrome.
Browse Turner Syndrome studies →Radboud University Medical Center is the lead sponsor of 984 studies on the registry; 135 are open to participants now.
Of its 6 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
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We include girls with the diagnosis TS before the age of 3 months based on full or partial absence of one X-chromosome or a mosaic pattern. We will recruit the girls with TS from all medical centres in the Netherlands. The control group consists of girls who have blood collected at 3 months and at 9 months of age for another indication. Participants in the control group will be recruited in the Radboudumc in Nijmegen.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
In order to be eligible to participate in the TS group of this study, a subject must meet all of the following criteria:
In order to be eligible to participate in the control group of this study, a subject must meet all of the following criteria:
Exclusion Criteria:
A potential subject who meets any of the following criteria will be excluded from participation in this study:
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.
Other: 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.
Defining the LH range in blood during minipuberty in girls with TS at 3 months of age and at 9 months of age
LH (luteinizing hormone) will be collected with a venapuncture and analysed with the Elecsys method on the Cobas E801system of Roche.
Time frame: 1 year after venapuncture
Defining the FSH range during minipuberty in girls with TS at 3 months of age and at 9 months of age
FSH (follicle stimulating hormone) will be collected with a venapuncture and analysed with the Elecsys method on the Cobas E801system of Roche.
Time frame: 1 year after venapuncture
Defining the AMH range during minipuberty in girls with TS at 3 months of age and at 9 months of age
AMH (Anti-Müllerian hormone) will be collected with a venapuncture and analysed on the Access of Beckman Coulter.
Time frame: 1 year after venapuncture
Defining the estradiol range during minipuberty in girls with TS at 3 months of age and at 9 months of age
estradiol will be collected with a venapuncture and analysed with the LCMSMS analysis method.
Time frame: 1 year after venapuncture
Defining the testosterone range during minipuberty in girls with TS at 3 months of age and at 9 months of age
testosterone will be collected with a venapuncture and analysed with the LCMSMS analysis method.
Time frame: 1 year
Defining the inhibin B range during minipuberty in girls with TS at 3 months of age and at 9 months of age
inhibin B will be collected with a venapuncture and analysed with the GEN II ELISEA of Beckman Coulter.
Time frame: 1 year after venapuncture
Patient's karyotype vs LH
The association between patient's karyotype and LH level at 3 months of age and 9 months of age
Time frame: 1 year after venapuncture
Patient's karyotype vs FSH
The association between patient's karyotype and FSH level at 3 months of age and 9 months of age
Time frame: 1 year after venapuncture
Patient's karyotype vs AMH
The association between patient's karyotype and AMH level at 3 months of age and 9 months of age
Time frame: 1 year after venapuncture
Patient's karyotype vs estradiol
The association between patient's karyotype and estradiol level at 3 months of age and 9 months of age
Time frame: 1 year after venapuncture
Patient's karyotype vs testosterone
The association between patient's karyotype and testosterone level at 3 months of age and 9 months of age
Time frame: 1 year after venapuncture
Patient's karyotype vs inhibin B
The association between patient's karyotype and inhibin B level at 3 months of age and 9 months of age
Time frame: 1 year after venapuncture
Plan to share: No
Started Feb 2020 (actual). Primary completion is estimated for Dec 2024, 58 months after the start.
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This study is status unknown, as verified in Mar 2023. You cannot join it, but the record below documents what was studied.
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