Assessment of Ovarian Reserve in Patients With Fragile X Premutation

Обзор

Premature ovarian failure (POF) affects 1% of women under the age of 40 and is defined by the presence of a disorder of the cycle such as spaniomenorrhea or amenorrhea and an increase in FSH \> 25 IU/l on two occasions a few weeks apart. The prevalence of premature ovarian failure in women carrying the FMR1 gene premutation is estimated to be between 13 and 26%. Conversely, patients carrying premutations have been identified in 0.8 to 7.5% of women with sporadic POI and up to 13% of women with a familial form of POI. The variability in penetrance seems to be due, among other things, to the increased probability of POI with the increased number of CGG repeats. This relationship is not linear; indeed, the risk appears to increase with the increase in the number of CGG triplets between 59 and 99, then the risk reaches a plateau or even decreases for women with more than 100 repeats. Patients with a full FMR1 mutation are not at a higher risk of POI than the general population. The systematic evaluation of ovarian function and reserve in patients with FMR1 premutation and the monitoring of the latter over time is therefore a major element in the management of these women in order to be able to provide them with advice regarding their fertility or even to discuss ways of preserving their fertility. There are no longitudinal data on the evolution of ovarian reserve over time in pre-matured women, nor is there any determination of early predictive factors for its alteration. We propose to retrospectively evaluate ovarian function and its evolution over time in pre-matured women seen in 2 reference centers (Paris, Lyon) based on questionnaires, blood tests and pelvic ultrasound.

Подробное описание

Premature ovarian failure (POF) affects 1% of women under the age of 40 and is defined by the presence of a disorder of the cycle such as spaniomenorrhea or amenorrhea and an increase in FSH \> 25 IU/l on two occasions a few weeks apart.

The prevalence of premature ovarian failure in women carrying the FMR1 gene premutation is estimated to be between 13 and 26%. Conversely, patients carrying premutations have been identified in 0.8 to 7.5% of women with sporadic POI and up to 13% of women with a familial form of POI.

The variability in penetrance seems to be due, among other things, to the increased probability of POI with the increased number of CGG repeats. This relationship is not linear; indeed, the risk appears to increase with the increase in the number of CGG triplets between 59 and 99, then the risk reaches a plateau or even decreases for women with more than 100 repeats. Patients with a full FMR1 mutation are not at a higher risk of POI than the general population.

The systematic evaluation of ovarian function and reserve in patients with FMR1 premutation and the monitoring of the latter over time is therefore a major element in the management of these women in order to be able to provide them with advice regarding their fertility or even to discuss ways of preserving their fertility. There are no longitudinal data on the evolution of ovarian reserve over time in pre-matured women, nor is there any determination of early predictive factors for its alteration.

We propose to retrospectively evaluate ovarian function and its evolution over time in pre-matured women seen in 2 reference centers (Paris, Lyon) based on questionnaires, blood tests and pelvic ultrasound.

Вмешательства

• Другое collection of data from medical records
  collection of data from medical records

Первичные конечные точки

• characterize ovarian reserve in women diagnosed with FMR1 premutation [Срок оценки: Day1]

Вторичные конечные точки (3)

• Gonadotrophic axis at diagnosis and annually [Срок оценки: at diagnosis and annually]
• Endovaginal pelvic ultrasound with counting of antral follicles at diagnosis and annually [Срок оценки: at diagnosis and annually]
• Duration of menstrual cycles [Срок оценки: Day 1]

Критерии участия

Критерии включения

• \- Women aged 18 to 40 years old, carriers of FMR1 premutation, regardless of the number of CGG triplet repeats
• Informed patients who do not object to participating in the research- Patients who have been informed and do not object to participating in the research

Критерии исключения

• \- Gynecological history that may have impacted ovarian reserve: surgery, radiotherapy, chemotherapy or endometriosis
• Patients who are not affiliated with a social security scheme or who are not entitled to it
• Patients under legal protection, or under guardianship or trusteeship.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения

Когортное

Центры проведения

Франция · 1 центр

• Endocrinologie et médecine de la reproduction Hôpital Pitié-Salpêtrière — Paris

Идентификаторы

NCT: NCT07039734 · APHP250753

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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