Polycystic Ovary Syndrome (PCOS): Research Activities and Scientific Advances

Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on Polycystic Ovary Syndrome (PCOS). Short descriptions of this research are included below.

• Institute Activities & Advances
• Other Activities & Advances

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.

• PCOS Treatments & Treatment Mechanisms
• PCOS Epidemiology & Demographics

PCOS Treatments & Treatment Mechanisms

• Researchers funded by the FI Branch have compared the effectiveness of metformin, clomiphene, and the two drugs combined in helping women with PCOS get pregnant. Metformin is an insulin sensitizer and clomiphene is used to stimulate ovulation. Previous studies have suggested that treating insulin insensitivity and correcting abnormal levels of insulin and sex hormones improve ovulation and fertility in women with PCOS. The researchers concluded that clomiphene could be used as a first-line therapy for infertility in women with PCOS (PMID: 17287476). Read details of the study in this NICHD press release: Standard Therapy More Effective than Diabetes Drug for Achieving Pregnancy in Common Fertility Disorder.
• 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 (RMU) found that this practice led to 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 (PMID: 22525900).
• Researchers affiliated with the NICHD-supported RMU  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 FI Branch-funded 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 (PMID: 21123449).

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PCOS Epidemiology & Demographics

The NICHD also supports and conducts research on the epidemiology and demographic characteristics of PCOS. Some of this research is supported through the FI Branch, including studies of racial disparities in PCOS and predictive factors of PCOS in pubertal girls.

Additional research is conducted through the NICHD's Division of Epidemiology, Statistics, & Prevention Research (DESPR). DESPR studies are exploring precursors to PCOS as well as the time course of reproductive disorders including PCOS.
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 & 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.

• 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, a group of FI Branch-funded researchers found that African-American women and white women with PCOS are similar enough that they can be combined in future studies (PMID: 21723443).
• To understand more about how and when PCOS develops, a study funded by the FI Branch compared androgen levels in normal and obese girls during the transition to puberty. The study suggested that the presence of high androgen levels in prepubertal obese girls may predict later development of PCOS. The ability to predict development of PCOS could allow for early interventional strategies such as lifestyle modifications (diet, exercise) to prevent later development of PCOS and the metabolic syndrome (PMID: 17118995).
• Although PCOS is considered a disease of adults and adolescents, recent studies suggest it begins earlier and that some of its signs are present in childhood. An ongoing DESPR study is exploring possible early signs of PCOS among girls ages 6 to 8 years. The study aims to answer questions such as whether ovarian enlargement or development of polycystic ovaries in prepubertal and early pubertal girls occurs before or after the development of insulin resistance, fat around the waist, and dysfunction of fat cells, or whether these factors are unrelated.

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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. The RMN currently has several ongoing clinical studies, including a clinical trial to assess the efficacy of several medications designed to help women with PCOS conceive and deliver healthy babies.
• The Specialized Cooperative Centers Program in Reproduction & 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.