infertiliteit amenorrhea cycle disturbances oligomenorrhea
Conditions
Interventions
None listed
Sponsors
Voortplantingsgeneeskunde
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: WHO I Hypogonadotropic hypoestrogenic status (previously: *hypothalamic amenorrhea*) 1. Low to normal serum FSH concentrations 2. Low serum estradiol concentrations;WHO II 1. Amenorrhea or oligomenorrhea (mean cycle >35 days during the last 6 months) 2. Normal serum FSH concentrations ( 40 IU/L. 2. IOF: defined as normo-ovulatory cycles with raised basal FSH > 12 IU/L before the age of 40 years. 3. TOF: defined as irregular cycles with raised basal FSH > 12 IU/L before the age of 40 years. 4. Poor ovarian response: defined as less than 4 oocytes retrieved or cancellation in case of absent follicle growth after ovarian hyperstimulation with 300 IU gonadotropins. 5. Early menopause: menopause occurring between age 40 and 45 years. 6. Hypergonadotropic primary amenorrhea: primary amenorrhoea with raised basal FSH > 12 IU/L.;When a familial component can be identified from the family history (i.e. * 3 affected relatives), the 1st and/or 2nd degree relatives will be approached for participation in the genetic screening. (for procedure; see question F1)
Exclusion criteria
Exclusion criteria: - Age: younger than 12 yrs. - Regularly cycling women, with the exception of women with elevated basal FSH concentrations (IOF cases). - Hypergonadotropic primary amenorrhea caused by early development disorders causing absence of ovaries and Swyer syndrome (XY).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. To improve accuracy and reproducibility of diagnostic criteria for oligomenorrhea and amenorrhea (WHO classes I, II, and III) 2. To better understand etiologic factors involved in cycle disturbances (including metabolic disturbances and ethnic variation) 3. To better assess the extent of other female health implications in women with cycle disturbances (including bone density, quality of life, and cardiovascular risk) 4. To identify genetic factors associated with oligomenorrhea or amenorrhea (using both conventional and newly developed molecular technologies) 5. To enable long-term follow-up regarding pregnancy, children*s health by providing baseline (cross-sectional) data 6. To enable long-term follow-up regarding the woman/mother by providing baseline (cross-sectional) data | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Identification of periconceptional health status in PCOS (CoPPer study; protocol 07-331, year 2007) a. Prediction of pregnancy in women with PCOS b. Prediction of pregnancy risks in women with PCOS c. PM: Pregnancy outcome: health of children born in women with PCOS (protocol in preparation) 2. Cardiovascular risk profile inventarisation a. Cross-sectional in all women with WHO I, II or III (current protocol) b. Follow-up in women with POI or PCOS (protocol in preparation) 3. Evaluation of quality of life in all women with WHO I, II, or III (current protocol) a. Lifestyle (current protocol) and life style intervention (protocol in preparation) b. Inventarisation of emotional distress c. Sexual well-being 4. Family studies in women with POI or PCOS (also in previous protocols 04-263 (year 2004) and 05-047 (year 2005)) a. Genome wide linkage analysis; ethnic variation 5. Genetic studies in women with POI or PCOS (also in previous protocols 04-263 (year 2004) and 05-047 (year 2005)) a. Candidate gene studies b. Single nucleotide polymorphism (SNP) analysis through genome wide sssociation studies (GWAS) c. Copy number variance (CNV) analysis through GWAS. d. Whole genome sequencing | — |
Countries
Netherlands
Outcome results
None listed