Polycystic Ovary Syndrome (PCOS) Diagnostic Algorithm

This algorithm describes laboratory testing for assessment of PCOS criteria and differential diagnosis of PCOS and assessment of comorbidities.

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This algorithm describes laboratory testing for assessment of PCOS criteria and differential diagnosis of PCOS and assessment of comorbidities.

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Test Code 17180

17-Hydroxyprogesterone

17-Hydroxyprogesterone is elevated in patients with Congenital Adrenal Hyperplasia (CAH). CAH is a group of autosomal recessive diseases characterized by a deficiency of cortisol and an excess of ACTH concentration. 17-Hydroxyprogesterone is also useful in monitoring cortisol replacement therapy and in evaluating infertility and adrenal and ovarian neoplasms.

Test Code 19537

TSH with HAMA Treatment

Precision in the estimation of TSH is crucial to the follow-up of subjects with thyroid disorders. The preincubation of samples to remove HAMA immunoglobulins provides a way to ensure that an otherwise unsuspected rise or drop in TSH concentration will not be interpreted as either a false positive or false negative.

Test Code 14534

Cortisol, Free, 24-Hour Urine

This urinary free cortisol (UFC) test, performed with a 24-hour urine specimen, is one of the preferred tests for screening for and diagnosing Cushing syndrome. This test may also be used to monitor for recurrence of Cushing disease [1]. In addition, when used in conjunction with the measurement of 24-hour urine cortisone, this test may help identify disorders caused by impaired activity of 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2), such as apparent mineralocorticoid excess (AME) syndrome [2].

UFC level is independent of corticosteroid-binding globulin and albumin levels; thus, UFC level can demonstrate increased bioavailable cortisol in patients with endogenous Cushing syndrome [1]. A UFC test with 24-hour urine specimen also has the advantage of averaging circadian and ultradian variations of cortisol secretion. An elevated UFC level may provide initial evidence for Cushing syndrome. Two or more positive results of UFC tests may establish the diagnosis of Cushing syndrome if non-neoplastic hypercortisolism (pseudo-Cushing syndrome) is excluded [1].

A late-night salivary cortisol (LNSC) test or dexamethasone suppression test (DST) can also be used to diagnose Cushing syndrome or monitor for Cushing disease. Choice of test should be based on clinical scenario [1]. When monitoring for recurrence of Cushing disease, UFC levels usually become abnormal after LNSC tests or DSTs do [1].

UFC testing is not recommended for screening for Cushing syndrome in individuals with impaired kidney function or polyuria [1]. Non-neoplastic hypercortisolism caused by obesity, psychiatric disorders, alcohol use disorder, and polycystic ovary syndrome may increase UFC levels.

In patients with AME syndrome, deficiency of 11beta-HSD2 impairs the deactivation of cortisol to cortisone. Similarly, ingestion of certain compounds that inhibit 11beta-HSD2 activity, such as glycyrrhetinic acid (in licorice), carbenoxolone, and phthalates, may also reduce the conversion of cortisol to cortisone. Therefore, a high cortisol-to-cortisone ratio measured in 24-hour urine may help identify disorders caused by impaired activity of 11beta-HSD2 [2, 3].

The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.

Reference
1. Fleseriu M, et al. Lancet Diabetes Endocrinol. 2021;9(12):847-875.
2. Young WF, Jr., et al. Endocrine Reviews. 2017;38(2):103-122.
3. Carvajal CA, et al. J Clin Endocrinol Metab. 2020;105(4):dgz315.

Test Code 36170

Testosterone, Free (Dialysis) and Total, MS

Helpful in assessing testicular function in prepubescent hypogonadal males and in managing hirsutism, virilization in females.

Test Code 90426

Steroid Panel, PCOS/CAH Differentiation

This panel is important in the differential diagnosis of PCOS vs. non-classical CAH in women with oligomenorrhea/amenorrhea and signs of androgen excess.

Test Code 402

DHEA Sulfate, Immunoassay

DHEA-S is the sulfated form of DHEA and is the major androgen produced by the adrenal glands. This test is used in the differential diagnosis of hirsute or virilized female patients and for the diagnosis of isolated premature adrenarche and adrenal tumors. About 10% of hirsute women with Polycystic Ovarian Syndrome (PCOS) have elevated DHEA-S but normal levels of other androgens.

Test Code 899

TSH

For differential diagnosis of primary, secondary, and tertiary hypothyroidism. Also useful in screening for hyperthyroidism. This assay allows adjustment of exogenous thyroxine dosage in hypothyroid patients and in patients on suppressive thyroxine therapy for thyroid neoplasia.

Test Code 7137

FSH and LH

FSH and LH are secreted by the anterior pituitary in response to gonadotropin-releasing hormone (GNRH) secreted by the hypothalamus. In both males and females, FSH and LH secretion is regulated by a balance of positive and negative feedback mechanisms involving the hypothalamic-pituitary axis, the reproductive organs, and the pituitary and sex steroid hormones. FSH and LH play a critical role in maintaining the normal function of the male and female reproductive systems. Abnormal FSH levels with corresponding increased or decreased levels of LH, estrogens, progesterone, and testosterone are associated with a number of pathological conditions. Increased FSH levels are associated with menopause and primary ovarian hypofunction in females and primary hypogonadism in males. Decreased levels of FSH are associated with primary ovarian hyper-function in females and primary hypergonadism in males. Normal or decreased levels of FSH are associated with polycystic ovary disease in females. In males, LH is also called interstitial cell-stimulating hormone (ICSH). Abnormal LH levels with corresponding increased or decreased levels of FSH, estrogens, progesterone, and testosterone are associated with a number of pathological conditions. Increased LH levels are associated with menopause, primary ovarian hypofunction, and polycystic ovary disease in females and primary hypo-gonadism in males. Decreased LH levels are associated with primary ovarian hyperfunction in females and primary hyper-gonadism in males.

Test Code 19720

hCG, Total with HAMA Treatment

Test Code 19897

Cortisol, LC/MS, Saliva

Salivary cortisol level, particularly late-night salivary cortisol (LNSC) level, is useful in screening for endogenous Cushing syndrome. Two or more positive results of LNSC tests may be used to confirm Cushing syndrome. LNSC measurement may also be used to monitor for recurrence of Cushing disease [1].

Normally, the secretion of cortisol has a circadian rhythm. Patients with Cushing syndrome often lose the late-night circadian nadir. Therefore, an elevated LNSC level may provide initial evidence for Cushing syndrome. Two or more positive results of LNSC tests may establish the diagnosis of Cushing syndrome if non-neoplastic hypercortisolism (pseudo-Cushing syndrome) is excluded. Because saliva is convenient to collect, LNSC testing is especially useful for individuals who need to provide multiple specimens over time for the evaluation of cyclic Cushing syndrome [1].

Annual LNSC testing is recommended to monitor for the recurrence of Cushing disease after pituitary surgery. LNSC testing may also be used in assessing treatment outcomes in patients receiving medical therapy for Cushing disease [1].

Non-neoplastic hypercortisolism caused by obesity, psychiatric disorders, alcohol use disorder, and polycystic ovary syndrome may increase LNSC levels. LNSC testing should not be used to screen for Cushing syndrome in individuals without normal day and night cycles. LNSC testing has low sensitivity in patients with adrenal tumors [1].

Other tests, such as urinary free cortisol (test code 14534) and dexamethasone suppression test (test code 6921), may also be used to screen for Cushing syndrome. Choice of tests should be individualized based upon clinical scenarios [1].

The results of this test should be interpreted in the context of pertinent clinical and family history and physical examination findings.

Reference
⁠⁠⁠⁠⁠⁠⁠1. Fleseriu M, et al. Lancet Diabetes Endocrinol. 2021;9(12):847-875.

Test Code 746

Prolactin

During pregnancy and postpartum lactation, serum prolactin can increase 10- to 20-fold. Exercise, stress, and sleep also cause transient increases in prolactin levels. Consistently elevated serum prolactin levels (>30 ng/mL), in the absence of pregnancy and postpartum lactation, are indicative of hyperprolactinemia. Hypersecretion of prolactin can be caused by pituitary adenomas, hypothalamic disease, breast or chest wall stimulation, renal failure or hypothyroidism. A number of drugs, including many antidepressants, are also common causes of abnormally elevated prolactin levels. Hyperprolactinemia often results in galactorrhea, amenorrhea, and infertility in females, and in impotence and hypogonadism in males. Renal failure, hypothyroidism, and prolactin-secreting pituitary adenomas are also common causes of abnormally elevated prolactin levels.

Test Code 470

FSH (Follicle Stimulating Hormone)

This test is useful in the differential diagnosis of pituitary and gonadal insufficiency and in children with precocious puberty.

Test Code 8396

hCG, Total, Quantitative

hCG may reach detectable limits within 7-10 days of conception. hCG is produced by the placenta and reaches a peak between the 7th and 10th week of gestation. hCG is a glycoprotein hormone produced by the syncytiotrophoblast of the placenta and secreted during normal pregnancy and with pathologic conditions such as hydatidiform mole, choriocarcinoma and testicular neoplasm. Order hCG, Total, Qualitative, Urine, if hCG serum result is inconsistent with clinical presentation.

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Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

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