International guidelines on improving diagnosis and treatment of polycystic ovary syndrome (PCOS) describe the best assays to use, Bridget M. Kuehn writes in the September Clinical Laboratory News. Specifically, it addresses two key questions for laboratories supporting clinicians in diagnosis: how to best identify hyperandrogenism and whether anti-Müllerian hormone (AMH) is ready for primetime.

PCOS can lead to infertility and metabolic problems but often goes undiagnosed. “Women with PCOS are generally experiencing delays in diagnosis” and many express dissatisfaction in care, according to lead author of the guideline Helena Teede, MBBS, PhD, a professor of women’s health and director of the Monash Centre for Health Research and Implementation at Monash University in Melbourne, Australia.

More than 1,800 women and 1,000 health professionals from around the world provided their input on this evidence-based guideline, which provides comprehensive information for clinicians on assessing and diagnosing PCOS. As Kuehn summarizes, the document also looks at the choices labs face in selecting tests in the work-up of PCOS. The authors recommend against direct immunoassays, but support liquid chromatography-mass spectrometry (MS) and extraction chromatography immunoassays to assess free testosterone levels in women suspected of having PCOS.

“If you want a truly solid, accurate testosterone measurement in women, who typically have lower testosterone concentrations, mass spectrometry is really the way to go,” says Robert Nerenz, PhD, assistant director of clinical chemistry at Dartmouth-Hitchcock Medical Center in Lebanon, New Hampshire. “Immunoassays just have pretty poor specificity at the low end and so they’ll generate a testosterone value that isn’t entirely testosterone.”

Until more data supports this option, the guideline recommends against using AMH as a biochemical alternative to using ultrasound to detect ovarian cysts. It also suggests free androgen index (FAI) as an option for assessing hyperandrogenism, along with calculated bioavailable testosterone or free testosterone.

The guideline will receive regular updates to reflect emerging data. The international consortium that developed this document has been working to develop cluster-based cutoffs for PCOS diagnostic criteria. This will help identify women who are likely to have clinical complications of PCOS. “Things will change over the next five years as we hone in on those very specific questions,” Teede says.

Pick up September’s CLN to learn more about the laboratory community’s reaction to these new guidelines.