Diagnosis of polycystic ovary syndrome in adults
- Robert L Barbieri, MD
Robert L Barbieri, MD
- Editor-in-Chief — Obstetrics, Gynecology and Women's Health
- Section Editor — General Gynecology and Female Reproductive Endocrinology
- Kate Macy Ladd Professor of Obstetrics, Gynecology and Reproductive Biology
- Harvard Medical School
- David A Ehrmann, MD
David A Ehrmann, MD
- Professor of Medicine
- University of Chicago
The polycystic ovary syndrome (PCOS) is an important cause of both menstrual irregularity and androgen excess in women. PCOS can be readily diagnosed when women present with the classic features of hirsutism, irregular menstrual cycles, obesity (in some, but not all populations), and polycystic ovarian morphology on transvaginal ultrasound [TVUS]). However, there has been considerable controversy about specific diagnostic criteria when not all of these classic features are evident.
The diagnosis of PCOS will be reviewed here. The epidemiology and pathogenesis, clinical manifestations, and treatment of PCOS are described in detail separately. The diagnosis of PCOS in adolescents is also reviewed separately. (See "Epidemiology and pathogenesis of the polycystic ovary syndrome in adults" and "Clinical manifestations of polycystic ovary syndrome in adults" and "Treatment of polycystic ovary syndrome in adults" and "Diagnostic evaluation of polycystic ovary syndrome in adolescents".)
The clinical features of PCOS are described here briefly but are reviewed in detail separately. (See "Clinical manifestations of polycystic ovary syndrome in adults".)
PCOS is thought to be one of the most common endocrinopathies in women, affecting between 5 and 12 percent of women, depending upon the population studied (see "Epidemiology and pathogenesis of the polycystic ovary syndrome in adults", section on 'Epidemiology'). The syndrome is characterized clinically by oligomenorrhea and hyperandrogenism, as well as the frequent presence of associated risk factors for cardiovascular disease, including obesity, glucose intolerance, dyslipidemia, fatty liver, and obstructive sleep apnea. Other features include:
●Menstrual dysfunction – The menstrual irregularity typically begins in the peripubertal period, and menarche may be delayed. The menstrual pattern is typically one of oligomenorrhea (fewer than nine menstrual periods in a year) and, less often, amenorrhea (no menstrual periods for three or more consecutive months). Women with PCOS often experience more regular cycles after age 40 years. (See "Clinical manifestations of polycystic ovary syndrome in adults", section on 'Menstrual dysfunction'.)
- Randeva HS, Tan BK, Weickert MO, et al. Cardiometabolic aspects of the polycystic ovary syndrome. Endocr Rev 2012; 33:812.
- Gibson-Helm ME, Lucas IM, Boyle JA, Teede HJ. Women's experiences of polycystic ovary syndrome diagnosis. Fam Pract 2014; 31:545.
- Gibson-Helm M, Teede H, Dunaif A, Dokras A. Delayed Diagnosis and a Lack of Information Associated With Dissatisfaction in Women With Polycystic Ovary Syndrome. J Clin Endocrinol Metab 2017; 102:604.
- Ly LP, Handelsman DJ. Empirical estimation of free testosterone from testosterone and sex hormone-binding globulin immunoassays. Eur J Endocrinol 2005; 152:471.
- Sartorius G, Ly LP, Sikaris K, et al. Predictive accuracy and sources of variability in calculated free testosterone estimates. Ann Clin Biochem 2009; 46:137.
- Ly LP, Sartorius G, Hull L, et al. Accuracy of calculated free testosterone formulae in men. Clin Endocrinol (Oxf) 2010; 73:382.
- Lim SS, Norman RJ, Davies MJ, Moran LJ. The effect of obesity on polycystic ovary syndrome: a systematic review and meta-analysis. Obes Rev 2013; 14:95.
- Pinola P, Piltonen TT, Puurunen J, et al. Androgen Profile Through Life in Women With Polycystic Ovary Syndrome: A Nordic Multicenter Collaboration Study. J Clin Endocrinol Metab 2015; 100:3400.
- Welt CK, Arason G, Gudmundsson JA, et al. Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations. J Clin Endocrinol Metab 2006; 91:4361.
- O'Reilly MW, Taylor AE, Crabtree NJ, et al. Hyperandrogenemia predicts metabolic phenotype in polycystic ovary syndrome: the utility of serum androstenedione. J Clin Endocrinol Metab 2014; 99:1027.
- Livadas S, Pappas C, Karachalios A, et al. Prevalence and impact of hyperandrogenemia in 1,218 women with polycystic ovary syndrome. Endocrine 2014; 47:631.
- New MI. Nonclassic 21-hydroxylase deficiency. Fertil Steril 2006; 86 Suppl 1:S2.
- Dumont A, Robin G, Catteau-Jonard S, Dewailly D. Role of Anti-Müllerian Hormone in pathophysiology, diagnosis and treatment of Polycystic Ovary Syndrome: a review. Reprod Biol Endocrinol 2015; 13:137.
- Tal R, Seifer DB, Khanimov M, et al. Characterization of women with elevated antimüllerian hormone levels (AMH): correlation of AMH with polycystic ovarian syndrome phenotypes and assisted reproductive technology outcomes. Am J Obstet Gynecol 2014; 211:59.e1.
- Tremellen K, Zander-Fox D. Serum anti-Mullerian hormone assessment of ovarian reserve and polycystic ovary syndrome status over the reproductive lifespan. Aust N Z J Obstet Gynaecol 2015; 55:384.
- Johnstone EB, Rosen MP, Neril R, et al. The polycystic ovary post-rotterdam: a common, age-dependent finding in ovulatory women without metabolic significance. J Clin Endocrinol Metab 2010; 95:4965.
- Dewailly D, Lujan ME, Carmina E, et al. Definition and significance of polycystic ovarian morphology: a task force report from the Androgen Excess and Polycystic Ovary Syndrome Society. Hum Reprod Update 2014; 20:334.
- Alsamarai S, Adams JM, Murphy MK, et al. Criteria for polycystic ovarian morphology in polycystic ovary syndrome as a function of age. J Clin Endocrinol Metab 2009; 94:4961.
- Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 2004; 19:41.
- Zawadski JK, Dunaif A. Diagnostic criteria for polycystic ovary syndrome: Towards a rational approach. In: Polycystic Ovary Syndrome (Current Issues in Endocrinology and Metabolism), Dunaif A, Givens JR, Haseltine FP, Merriam GE (Eds), Blackwell Scientific Inc., Boston 1992. p.377.
- Azziz R, Carmina E, Dewailly D, et al. The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report. Fertil Steril 2009; 91:456.
- NIH. Polycystic Ovary Syndrome (PCOS) - Resources. http://prevention.nih.gov/workshops/2012/pcos/resources.aspx (Accessed on March 19, 2013).
- Legro RS, Arslanian SA, Ehrmann DA, et al. Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2013; 98:4565.
- Derksen J, Nagesser SK, Meinders AE, et al. Identification of virilizing adrenal tumors in hirsute women. N Engl J Med 1994; 331:968.
- American Association of Clinical Endocrinologists Polycystic Ovary Syndrome Writing Committee. American Association of Clinical Endocrinologists Position Statement on Metabolic and Cardiovascular Consequences of Polycystic Ovary Syndrome. Endocr Pract 2005; 11:126.
- Salley KE, Wickham EP, Cheang KI, et al. Glucose intolerance in polycystic ovary syndrome--a position statement of the Androgen Excess Society. J Clin Endocrinol Metab 2007; 92:4546.
- Wild RA, Carmina E, Diamanti-Kandarakis E, et al. Assessment of cardiovascular risk and prevention of cardiovascular disease in women with the polycystic ovary syndrome: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome (AE-PCOS) Society. J Clin Endocrinol Metab 2010; 95:2038.
- Makri E, Tziomalos K. Prevalence, etiology and management of non-alcoholic fatty liver disease in patients with polycystic ovary syndrome. Minerva Endocrinol 2017; 42:122.
- CLINICAL FEATURES
- When to suspect PCOS
- - Delays in diagnosis
- History and physical
- Biochemical testing
- - Women with hyperandrogenism
- Normal menstrual cycles
- Already taking pharmacologic therapy
- Severe hyperandrogenism/virilization
- - Women with features of other endocrine disorders
- Transvaginal ultrasound
- Rotterdam criteria (preferred)
- Other proposed criteria
- Postmenopausal women
- DIFFERENTIAL DIAGNOSIS
- Androgen-secreting tumors/ovarian hyperthecosis
- FURTHER EVALUATION AFTER DIAGNOSIS
- Cardiometabolic risk assessment
- - Cardiovascular
- - Sleep apnea
- Role of transvaginal ultrasound
- Nonalcoholic fatty liver disease
- Depression and anxiety disorders
- Anovulatory infertility
- SOCIETY GUIDELINE LINKS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS