Polycystic ovary syndrome (PCOS) is the most common endocrinopathy among reproductive-aged women; the prevalence is 5% to 10%.1 Like women with PCOS, affected adolescents often present with irregular menses, hirsutism, and acne. However, despite widespread agreement that the metabolic derangements of PCOS arise during puberty, the condition is diagnosed more often in adults than in adolescents.
Diagnosis of PCOS in adolescence is complicated by the following challenges:
• Signs of PCOS, including acne and oligomenorrhea, are common among healthy teenaged girls.
• Puberty is a dynamic state, and PCOS may take time to fully evolve.
• No formal criteria exist for diagnosing PCOS in adolescents.
Adolescents with PCOS are at risk for such sequelae as dyslipidemia, hypertension, type 2 diabetes mellitus, infertility as adults, and potentially coronary artery disease in adulthood. Prompt diagnosis is essential to optimize therapy, establish healthy diet and exercise habits, and prevent potential health consequences.
This is the first of a series of 2 articles on PCOS updated from a previous review published in 2007. Here the focus is on diagnosis. After a brief review of the pathophysiology, we review current diagnostic criteria and differential diagnostic considerations. In a future issue, we will detail the various treatment options for PCOS in adolescents. We will also discuss screening for—and monitoring of—the long-term associated risks.
Although the basic pathophysiology of PCOS is unknown, several cardinal endocrine derangements have been identified:
• Insulin resistance and resultant hyperinsulinism.
• Dysfunctional secretion of gonadotropin-releasing hormone (GnRH).
• Increased production of androgens primarily by the ovary.
Insulin resistance and resultant hyperinsulinism are central to the pathophysiology of PCOS. Insulin acts on ovarian theca cells to promote androgen secretion both independently of and synergistically with luteinizing hormone (LH). Hyperinsulinism also increases levels of bioavailable androgen by reducing the amount of sex hormone–binding globulin (SHBG) produced by the liver.2
Increased production of GnRH from the hypothalamus is thought to be responsible for the hypersecretion of LH in PCOS. Excess LH acts on theca cells in the ovary to augment androgen production.1 The reason for the more frequent secretion of GnRH in patients with PCOS remains unclear; it is possible that there is an intrinsic defect in the GnRH pulse generator or a lack of feedback inhibition of GnRH caused by chronically low progesterone levels.3,4