Ovarian Insufficiency, Turner Syndrome
Conditions
Keywords
Turner syndrome, infertility, ovarian insufficiency, ovarian cryopreservation
Brief summary
Ovarian insufficiency is common in Turner syndrome related to premature and rapid follicular apoptosis and spontaneous pregnancies are rare in this population. Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency. This study aims to assess the relevance of ovarian tissue cryopreservation in girls with Turner syndrome. Based on ovarian follicular density as primary outcome and karyotypic, clinical and hormonal markers as secondary outcomes, analysis of the study will allow to select the patients to whom the procedure would benefit the most.
Detailed description
Turner syndrome (TS) is characterized by the absence of all or part of a normal second X chromosome and occurs in about 1/2,500 live-born girls. Spontaneous fertility is rare among patients with TS related to premature apoptosis of ovarian follicles. Spontaneous puberty and fertility has been reported mostly in patients with mosaic karyotype or small X deletions. There is robust evidence that follicles can be observed in ovaries in girls with TS. However, follicular density and quality seems to be largely influenced by karyotype, ovarian morphology and endocrine competence. There are no clear-cut clinical or hormonal markers to assess the ovarian reserve in girls with TS but markers of ovarian function used in women with premature ovarian insufficiency are measured. In TS, it is now fundamental to be able to evaluate the prognosis of the ovarian function and the degree of fertility to provide the relevant information to girls and their parents and to discuss possibilities of motherhood if any. Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency. This study aims to assess the relevance of ovarian tissue cryopreservation in girls with Turner syndrome. Based on ovarian follicular density as primary outcome and karyotypic, clinical and hormonal markers as secondary outcomes, analysis of the study will allow to screen the patients to whom the procedure would benefit the most. Girls who will be operated will accept to come for a follow-up visit at one and 12 months after the surgery. It is expected to have clinical and hormonal information through a long follow up performed by the referred paediatrician. Results of the study will allow us to select patients with TS who will benefit the most of this fertility preservation procedure based on karyotypic, clinical and hormonal profile.
Interventions
PROCEDUREOvariectomy
Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency.
Sponsors
Assistance Publique - Hôpitaux de Paris
Groupe Hospitalier Pitie-Salpetriere
URC-CIC Paris Descartes Necker Cochin
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
PREVENTION
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
1 Years to 25 Years
Healthy volunteers
No
Inclusion criteria
: * girls aged from 1 to 25 years included, * with Turner syndrome or mosaic * patients aged more than 18 will only have ovarian insufficiency dated less than 5 years * without any severe disease, particularly of cardiovascular type * whose agreement to participate to the study has been signed by the parents * whose agreement to participate to the study has been signed by majority age patient
Exclusion criteria
: * girls aged less than one year and over 25 years old * if any surgery would be contra-indicated * ovary alone presence * Well-known infection by HIV, and/or HBV, and/or HCV and/or syphilis TPHA VDRL * No social coverage affiliate
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| the ovarian follicular density | at the time of the ovariectomy | the specific measure is the ovarian follicular density which will allow to Identify criteria, to predict existence or absence of ovarian follicles at the time of the surgery |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| measure hormonal markers | Before the ovariectomy, 1 month and 12 months after the ovariectomy | measure hormonal markers as FSH, AMH, Inhibine B and estradiol before, at one month and one year after the ovariectomy |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORLise Duranteau, MD, PhD
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed