Fragile X Syndrome, Healthy
Conditions
Keywords
African-American, estradiol, luteinizing hormone, follicle stimulating hormone, androstenedione, aromatase, inhibins, ovarian, Healthy volunteers, Fragile X
Brief summary
The purpose of the study is to understand how the ovarian follicle (the fluid filled structure in the ovary that contains the egg) makes estrogen and other hormones during normal aging, in women with different ethnic backgrounds, and in Fragile X premutation carriers. During reproductive aging, estradiol levels are increased, a phenomenon that may be related to increased aromatase activity. The investigators' own preliminary data suggest that estradiol is increased in African-American women compared to Caucasian women, which may also be related to aromatase activity. In addition, the investigators have examined female fragile X premutation carriers who still have regular menstrual cycles and have demonstrated evidence of early ovarian aging compared to age-matched controls. \*\*WE ARE RECRUITING ONLY WOMEN WITH FRAGILE-X PREMUTATION\*\*
Detailed description
The purpose of the study is to examine intrafollicular changes in aromatase and ovarian growth factors in reproductive aged women,African-American women compared to Caucasian controls, and Fragile X premutation carriers. Hypotheses: * Aromatase activity is up-regulated in preovulatory follicles with aging, accounting for the increased estradiol levels in the face of decreased inhibin secretion in reproductive aging. * Increased estradiol in the face of normal inhibin A and inhibin B suggests up-regulation of aromatase in African-American women. * Aromatase activity is down-regulated in preovulatory follicles in fragile X premutation carriers compared to age-matched controls and the activity is associated with FMR1 mRNA levels.
Interventions
PROCEDUREFollicle Aspiration
Follicles will be aspirated using a transvaginal ultrasound guided needle.
Sponsors
National Institutes of Health (NIH)
Massachusetts General Hospital
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 45 Years
Healthy volunteers
Yes
Inclusion criteria
Reproductively Younger Non-African-American Women: * 18-35 years of age * Body mass index (BMI) less than or equal to 30 * Regular menstrual cycles (25-35 days long) * Negative beta-human chorionic gonadotrophin (HCG) * Normal prolactin and thyroid stimulating hormone (TSH) levels * Hemoglobin greater than or equal to 11.0 gm/dl * Luteal phase progesterone level indicating ovulation on a previous cycle (\> 3 ng/ml) * Not currently trying to get pregnant * No blood donations within 2 months of initiating the blood sampling portion of the study * On no medications thought to interfere with normal menstrual cycle dynamics * Not current smokers or no exposure to passive smoke in the home or workplace (greater than 8 hours per day with a smoker of \> 10 cigarettes per day) * Normal platelet count and PT/PTT * No history of pelvic adhesions and accessible ovarian position as assessed by transvaginal ultrasound Reproductively Younger African-American Women: * 18-35 years of age * Meets all other inclusion criteria for the reproductively younger non-African-American population outlined above Reproductively Older Non-African-American Women: * 36-45 years of age * Meets all other inclusion criteria for the reproductively younger non-African-American population outlined above. Reproductive Aged Fragile X Premutation Carriers * Fragile X premutation carriers, with FMR1 CGG repeat lengths between 41 and 200. * 18-45 years of age * Meets all other inclusion criteria for the reproductively younger non-African-American population outlined above.
Exclusion criteria
* Hemoglobin level less than 11 gm/dl at time of screening
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Serum androstenedione, E2, A/E2, inhibin A, and inhibin B | at first day of menses until day after aspiration procedure |
| Follicular fluid androstenedione, E2, A/E2, inhibin A, and inhibin B | after aspiration procedure |
| RT-PCR results for aromatase in aspirated follicular fluid, when follicle is > 14 mm | after aspiration procedure |
Countries
United States
Outcome results
None listed