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.
Age range
1 Month – 3 Months
Sex
FEMALE
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The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Defining the LH range in blood during minipuberty in girls with TS at 3 months of age and at 9 months of age
Timeframe: 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
Timeframe: 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
Timeframe: 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
Timeframe: 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
Timeframe: 1 year
Defining the inhibin B range during minipuberty in girls with TS at 3 months of age and at 9 months of age
Timeframe: 1 year after venapuncture