GeneticsThe Genetics of Polycystic Ovarian Syndrome

Inclusion Criteria:

• Inclusion Criteria-PCOS Probands: 1) Aged 18 yrs or above 2) Oligomenorrhea or amenorrhea (<9 menses/yr); 3) clinical and/or biochemical evidence of hyperandrogenemia; 4) normal TSH and prolactin <25 ng/mL; 5) on no hormonal or insulin sensitizing medication for at least 3 months and have not taken Provera for at least ten days prior to enrollment. If the subject has previously had hormone levels drawn and processed in the Reproductive Endocrine Laboratory, it is not necessary to discontinue hormonal or insulin sensitizing medication.

A second group of PCOS probands with a documented diagnosis of PCOS will also be recruited. These subjects will meet all of the criteria above except that they will be on hormonal medication.

Inclusion Criteria-Female Unaffected Relatives: 1) Aged at 18 yrs or above; 2) Regular menstrual cycles 21-35 days or history of regular menstrual cycles in the past if menopausal; 3) no clinical or biochemical evidence of hyperandrogenism; 4) normal TSH and prolactin <25 ng/mL; 5) on no hormonal or insulin sensitizing medication for at least 3 months.

Inclusion Criteria-Male Relatives: 1) Aged 18 yrs or above; 2) normal TSH and prolactin <25 ng/mL; 5) on no hormonal or insulin sensitizing medication for at least 3 months.

Inclusion Criteria-Control Subjects: All control subjects will meet the criteria outlined for the female unaffected relatives. In Iceland, control subjects will be recruited from the Icelandic national registry, matched by age and sex to PCOS subjects and their family members. They will otherwise be recruited at random. In Boston, control subjects will be recruited from email and newspaper listings.

Exclusion Criteria:

• Exclusion Criteria PCOS Probands: Subjects will not have 1) late onset congenital adrenal hyperplasia as defined by a fasting 17OH progesterone level <200 ng/mL or a cortrosyn stimulated 17 OH progesterone level <500 ng/mL.

Exclusion Criteria (Female unaffected relatives): None. Exclusion Criteria Male Relatives: None. Exclusion Criteria-Control Subjects: Control subjects chosen at random will be excluded if they are already participating in the study as a PCOS subject or are a first degree family member of the PCOS subject.