Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on PCOS. Short descriptions of this research are included below.
Institute Activities & Advances
The Institute's research focuses on genetic, molecular, and cellular mechanisms underlying PCOS as well as studies to determine precursors or predictors of PCOS in adolescents. The NICHD also supports and conducts studies on potential new treatments for PCOS, using animal models and human participants.
The Fertility & Infertility (FI) Branch is the NICHD's principal entity for the support of research on PCOS. One of the long-term goals of the FI Branch is to find more effective treatments for the symptoms of PCOS as well as other conditions associated with the disorder. Treatments of interest include both pharmacological and non-pharmacological interventions. The FI Branch is also interested in how individual factors like genetics affect responses to treatment. Other research includes demographic and risk information related to PCOS. Some FI Branch–supported findings include:
- A common practice is to administer progestin to induce a “withdrawal bleed” before initiation of clomiphene to induce ovulation in women with PCOS. An analysis conducted by researchers affiliated with the NICHD-supported Reproductive Medicine Network (RMN) found that this practice was associated with a reduced chance of conception and live birth in women with PCOS treated with clomiphene, metformin, or clomiphene plus metformin. The researchers concluded that it may not be advisable to administer progestin to women with PCOS before treatment to stimulate ovulation. This study was a secondary analysis of data collected in a separate RMN trial. Additional studies are needed to confirm these findings (PMID: 22525900).
- Researchers affiliated with the NICHD-supported RMN also examined genetic differences among women to see if it altered their response to metformin. The findings helped explain the results of previous studies (PMID: 18000088). Learn more about the study from the NICHD press release, Gene Variation Predicts Response to Treatment in Common Infertility Disorder.
- Another group of researchers studied the effect of an eight-week, at-home treatment of obstructive sleep apnea (OSA) on the cardiometabolic function of obese women with PCOS. The researchers treated OSA with a special continuous positive airway pressure (CPAP) mask that the study participants wore at night while sleeping. More frequent use of the CPAP mask at night correlated with greater improvement in insulin sensitivity. The researchers concluded that OSA treatment may be a useful addition to traditional PCOS treatments such as insulin-sensitizing agents in those with PCOS and concomitant OSA (PMID: 21123449).
- Studies have shown that in endocrine disorders such as diabetes, African-Americans are more likely than other racial groups to have more severe symptoms. In an effort to understand if there were any racial differences in the symptoms of PCOS between African-American and white females, researchers found that the symptoms experienced by African-American women and white women with PCOS are similar enough that their study data can be combined in future studies (PMID: 21723443).
The Division of Intramural Research (DIR) also conducts research to advance understanding of the causes of PCOS. For example, the DIR Program on Developmental Endocrinology and Genetics is conducting a clinical trial to help determine if abnormal function of the adrenal glands contributes to elevated androgen levels and the development of PCOS in a subset of women. Researchers are currently looking for women to participate in this study. For more information on this research, visit http://clinicaltrials.gov/ct2/show/NCT01313455?term=NCT01313455&rank=1.
Other Activities & Advances
- The Reproductive Genomics Program: Mouse Models of Infertility is an NICHD-funded program at the Jackson Laboratory uses ENU mutagenesis to produce mouse models of infertility and includes mutagenesis of the mouse genome, phenotypic screening for infertility mutations, and regional mapping of each mutation to a chromosome. Breeding stock is available for scientists interested in using these models in their own research programs.
- The Reproductive Medicine Network (RMN), founded in 1989, carries out large, multicenter clinical trials of diagnostic and therapeutic interventions for male and female infertility and reproductive diseases and disorders. The Network, which is funded through the NICHD's FI Branch, is comprised of seven research sites and a data coordinating center. A recent clinical trial assessed the efficacy of several medications designed to help women with PCOS conceive and deliver healthy babies.
- The Specialized Cooperative Centers Program in Reproduction and Infertility Research (SCCPIR)is a national network of centers aimed at improving human reproductive health through the accelerated transfer of basic science findings into clinical practice. The SCCPIR is a research-based program supported through the NICHD's FI Branch that is designed to promote multidisciplinary interactions between basic and clinical scientists. Several of the centers focus on diseases/disorders of the female reproductive system, including PCOS.
- The Mammalian Reproductive Genetics Database, maintained through the SCCPIR, stores information and literature regarding genes and mammalian reproduction.
- The Ovarian Kaleidoscope Database, also maintained through the SCCPIR, provides information about the biological function, expression pattern, and regulation of genes expressed in the ovary. The database also contains information on gene sequences, chromosomal localization, and human and murine mutation phenotypes as well as links to biomedical publications.