Turner syndrome
Conditions
Interventions
1)Laparoscopic unilateral oophorectomy
2)Buccal Swab and one urine sample
3)1 Extra blood sample of 3.5mL will be collected during yearly blood check.
Hence, there will be no extra venipuncture perfo
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: • Girls and young females with classic Turner (i.e. 45X monosomy) or Turner variants (e.g. 45X/46XX mosaicism, ring X mosaicism, isochromosome X), • Aged 2 through 18 years, • who completed the diagnostic workup phase of TS including routine cardiac screening*, • whose agreement to participate in this study has been signed by the parents (girls 2-11 years old), • whose agreement to participate in this study has been signed by the patient and her parents (girls 12-17 years old), • whose agreement to participate in this study has been signed by the patient (adolescents of 18 years old).
Exclusion criteria
Exclusion criteria: • Contra-indications for laparoscopic unilateral oophorectomy under general anaesthia (e.g. severe cardiovascular comorbidity and/or BMI >40 kg/m2)*, • Contra-indications for cryopreservation (i.e. active HIV, hepatitis-B or hepatitis-C infection);*Based on the international Cincinatti Turner Guideline Concensus Meeting, July 2016 and consultation of Dutch cardiologists, paediatric-cardiologists and anaesthesists between 2016-2017 there are no absolute cardiovascular contra-indications for surgical intervention and/or pregnancy. Advice against surgical intervention and/or pregnancy should be based on the patient-specific cardiovascular risk profile. The 2% mortality risk due to acute aortic dissection is based on one survey and literature review study (Karnis et al. 2003) that reported the outcomes of 101 pregnancies in patients with TS after oocyte donation. Only 50% of the patients were screened by a cardiologist before entering the oocyte donation programme. Therefore, all girls who want to participate in this study should have completed the diagnostic work up phase of TS including routine cardiac screening and will be screened by a paediatric anaesthesist. Exclusion will be based on the patient specific risk profile.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Live birth after auto transplantation of cryopreserved-thawed ovarian cortical tissue (i.e. live birth rate or LBR) proximate: The number of primordial follicles found in the ovarian tissue | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary study parameters/endpoints • The association between patient*s age at cryopreservation and LBR • The association between patient*s genotype and LBR • The association between patient*s AMH level at cryopreservation and LBR • The association between patient*s FSH level at cryopreservation and LBR Tertiary study parameters/endpoints • The willingness of patients to perform a unilateral oophorectomy for fertility preservation (i.e. the study participation rate) • The number of eligible patients • The age of the participant • The incidence of somatic mosaicism (buccal cells, urinecells and peripheral lymphocytes) • The incidence of germ cell mosaicism (oocytes versus somatic cells) • Serum hormone levels (i.e. FSH, LH, AMH, E2, inhibin B) • The number of complications related to the laparoscopic procedure • The incidence of spontaneous puberty and/or spontaneous menarche after laparoscopic oophorectomy • The incidence of spontaneous pregnancies after laparoscopic oophorectomy • The incidence of menstruation cycle recovery after auto transplantation of cryopreserved-thawed ovarian tissue in the future • The incidence of pregnancies after auto transplantation of cryopreserved-thawed ovarian tissue in the future • The number of ongoing pregnancies after auto transplantation of cryopreserved-thawed ovarian tissue in the future • The number of miscarriages after auto transplantation of cryopreserved-thawed ovarian tissue in the future • Time to pregnancy after auto transplantation of cryopreserved-thawed ovarian tissue in the future • Time to live birth after auto transplantation of cryopreserved-thawed ovarian tissue in the future | — |
Countries
Netherlands
Outcome results
None listed