eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

Polycystic Ovarian Syndrome: Differential Diagnoses & Workup

Author: Robert J Ferry Jr, MD,, Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis, and St. Jude Children's Research Hospital; Brigade Surgeon, 36th Sustainment Brigade, 13th Expeditionary Sustainment Command, U.S. Army
Contributor Information and Disclosures

Updated: Oct 21, 2009

Differential Diagnoses

3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Gigantism and Acromegaly
Adrenal Carcinoma
Hyperthyroidism
Amenorrhea
Hypothyroidism
Congenital Adrenal Hyperplasia
Obesity

Other Problems to Be Considered

Patients with menstrual disturbances and signs of hyperandrogenism
Idiopathic hirsutism
Late-onset congenital adrenal hyperplasia
Familial hirsutism
Masculinizing tumors of the adrenal or ovary (rapid onset of signs of virilization)
Cushing syndrome (low K+, striae, central obesity, high cortisol; high androgens in adrenal carcinoma)
Hyperprolactinemia
Exogenous anabolic steroid use
Medications
Stromal hyperthecosis (valproic acid)

Workup

Laboratory Studies

The goal in patients with polycystic ovarian syndrome (PCOS) is to assess the severity and source of androgen excess and to rule out an adrenal or ovarian tumor. A karyotype usually excludes mosaic Turner syndrome as a cause of the primary amenorrhea.

  • Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels
    • FSH levels are within the reference range or low.
    • LH levels are elevated for Tanner stage, gender, and age.
    • The LH-to-FSH ratio is usually more than 3.
    • Stimulation testing with a long-acting gonadotropin-releasing hormone (GnRH) agonist induces a characteristic rise in ovarian-derived 17-hydroxyprogesterone after 24 hours. This is thought to be a result of excessive 17-hydroxylase activity.
  • Prolactin levels: A small percentage of patients have elevated prolactin levels (typically >25 mg/dL).
  • Thyroid-stimulating hormone (TSH) and free thyroxine levels
    • Thyroid dysfunction may cause amenorrhea and hirsutism.
    • Thyroid function tests are within the reference range in patients with polycystic ovarian syndrome.
    • Long-standing primary hypothyroidism can be associated with markedly elevated circulating TSH level. Elevated alpha subunit delivery (from one half of the dimeric TSH molecule) can then crossreact with FSH and LH receptors on breast tissue, leading to premature thelarche and, on ovarian tissue, leading to a polycystic ovarian syndrome–like picture. These physical findings of the van Wyk-Grumbach syndrome resolve upon thyroxine replacement therapy.
  • Total and free testosterone levels
    • Total testosterone is elevated in women with polycystic ovarian syndrome; however, total testosterone levels greater than 200 ng/dL is suggestive of an androgen-producing tumor of the ovary or adrenal gland.
    • Free testosterone levels are sensitive for ovarian hyperandrogenism and are elevated in patients with polycystic ovarian syndrome.
    • Sex hormone-binding globulin (SHBG) is concomitantly low.
  • Dehydroepiandrosterone (DHEAS) levels
    • DHEAS is a marker of adrenal androgen production.
    • DHEAS levels greater than 700 mcg/dL are suggestive of a tumor. DHEAS is elevated in women with polycystic ovarian syndrome but not at such high levels.
    • Androstenedione levels are also elevated. This androgen precursor is 60% ovarian and 40% adrenal in derivation.
  • Fasting cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), triglycerides, insulin, glucose, and hemoglobin A1C levels: Some women with polycystic ovarian syndrome have insulin resistance and an abnormal lipid profile (cholesterol >200 mg/dL; LDL >160 mg/dL). Approximately one third of women with polycystic ovarian syndrome who are overweight have impaired glucose tolerance or type 2 diabetes mellitus by age 30 years.5
  • Adrenocorticotropic hormone stimulation test
    • In female patients with signs of virilization that include clitoromegaly, premature pubarche, and high serum 17-hydroxyprogesterone (eg, >200 ng/dL in an 8-am sample), suspect late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    • Further evaluation of adrenal function is required. An adrenocorticotropic hormone (ACTH) stimulation test can be used to check for late-onset congenital adrenal hyperplasia.
  • Dexamethasone suppression test: History and physical examination usually exclude Cushing syndrome, but further tests, including 24-hour urine collection for free cortisol and 17-ketosteroids, a dexamethasone suppression test, and corticotropin-releasing hormone (CRH) stimulation tests, may be needed.

Imaging Studies

  • Ultrasonography
    • Perform ultrasonography if pelvic examination is inadequate, the patient has abdominal pain, or if testosterone levels are unusually high (eg, >200 ng/dL).
    • Criteria for polycystic ovaries include bilateral ovarian enlargement (>9 cm in diameter), 10 or more follicles 2-10 mm in diameter per ovary, and increased density of the stroma.

      Longitudinal transabdominal ultrasonogram of an o...

      Longitudinal transabdominal ultrasonogram of an ovary. This image reveals multiple peripheral follicles.

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      Longitudinal transabdominal ultrasonogram of an o...

      Longitudinal transabdominal ultrasonogram of an ovary. This image reveals multiple peripheral follicles.

  • CT scan or MRI: If a tumor is suspected, obtain a CT scan or MRI to visualize the adrenals and ovaries.

Histologic Findings

  • Histological changes of the ovary include enlarged, sclerotic, multiple cystic follicles.

More on Polycystic Ovarian Syndrome

Overview: Polycystic Ovarian Syndrome
Differential Diagnoses & Workup: Polycystic Ovarian Syndrome
Treatment & Medication: Polycystic Ovarian Syndrome
Follow-up: Polycystic Ovarian Syndrome
Multimedia: Polycystic Ovarian Syndrome
References
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References

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Further Reading

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Keywords

polycystic ovarian syndrome, PCOS, Stein-Leventhal syndrome, hyperandrogenism, functional ovarian hyperandrogenism, sclerocystic disease of the ovary, insulin resistance, perimenarchal onset, amenorrhea, obesity, menstrual dysfunction, HAIR-AN syndrome, treatment, diagnosis

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Contributor Information and Disclosures

Author

Robert J Ferry Jr, MD,, Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis, and St. Jude Children's Research Hospital; Brigade Surgeon, 36th Sustainment Brigade, 13th Expeditionary Sustainment Command, U.S. Army
Robert J Ferry Jr, MD, is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society
Disclosure: Nutropin Speakers Bureau Honoraria Speaking and teaching; Genotropin Speakers Bureau Honoraria Speaking and teaching; Eli Lilly & Co. Grant/research funds Independent contractor; MacroGenics, Inc. Grant/research funds Independent contractor; Ipsen, S.A. (formerly Tercica, Inc.) Grant/research funds Independent contractor

Medical Editor

Phyllis W Speiser, MD, Chief of Pediatric Endocrinology, Schneider Children's Hospital; Professor of Pediatrics, New York University School of Medicine
Phyllis W Speiser, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Lynne Lipton Levitsky, MD, Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor, Department of Pediatrics, Harvard University Medical School
Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Pfizer Grant/research funds P.I.; Tercica Grant/research funds PI, also occasional consultant

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital
Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research
Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfizer, Inc. Honoraria Consulting

 
 
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