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| Name | Class |
|---|---|
| Groupe Hospitalier Pitie-Salpetriere | OTHER |
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Surgery | Experimental | Ovariectomy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Ovariectomy | Procedure | Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency. |
| Measure | Description | Time Frame |
|---|---|---|
| the ovarian follicular density | 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 | at the time of the ovariectomy |
| Measure | Description | Time Frame |
|---|---|---|
| measure hormonal markers | measure hormonal markers as FSH, AMH, Inhibine B and estradiol before, at one month and one year after the ovariectomy | Before the ovariectomy, 1 month and 12 months after the ovariectomy |
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Inclusion criteria :
Exclusion criteria :
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| Name | Affiliation | Role |
|---|---|---|
| Lise Duranteau, MD, PhD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hopital Bicêtre | Le Kremlin-Bicêtre | 94275 | France |
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| ID | Term |
|---|---|
| D014424 | Turner Syndrome |
| D007246 | Infertility |
| ID | Term |
|---|---|
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| ID | Term |
|---|---|
| D010052 | Ovariectomy |
| ID | Term |
|---|---|
| D002369 | Castration |
| D013507 | Endocrine Surgical Procedures |
| D013514 | Surgical Procedures, Operative |
| D013519 | Urogenital Surgical Procedures |
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| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D000091662 | Genital Diseases |
| D013509 | Gynecologic Surgical Procedures |