The Clinical Study of Sex Chromosome Variants

Infertility is a disease that affects approximately 10% of couples world-wide. Causes of infertility are varied and include age-related decline in fecundity, other causes of ovulatory dysfunction, tubal and pelvic pathology, male causes, idiopathic, and multifactorial. The underlying genetic causes of infertility are incompletely understood. The purpose of this study is to increase our understanding of the genetic and clinical manifestations of infertility related to sex-chromosome variants through detailed physical, radiologic, and laboratory studies. We will concentrate on a group of patients (both male and female) with known sex-chromosome variationsfully characterized through genetic sequencing and karyotyping. Other patients with sex chromosome variants will be invited depending on the variant described. Patients recruited and consenting to this study will be evaluated at the NIH Clinical Center