Polycystic ovary syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

Polycystic ovary syndrome must be differentiated from other causes of irregular or absent menstruation and hirsutism, such as congenital adrenal hyperplasia, cushing's syndrome, hyperprolactinemia, and other pituitary or adrenal disorders.

Differentiating Polycystic Ovarian Syndrome From Other Diseases

Differentials based on irregular menstruation and hirsutism

Polycystic ovary syndrome must be differentiated from other causes of irregular or absent menstruation and hirsutism, such as congenital adrenal hyperplasia, cushing's syndrome, hyperprolactinemia, and other pituitary or adrenal disorders. The table below summarizes the findings that differentiate polycystic ovary syndrome from other conditions that cause irregular or absent menstruation and hirsutism:[1][2][3][4]

Disease Differentiating Features
Pregnancy
  • Pregnancy always should be excluded in a patient with a history of amenorrhea.
Hypothalamic amenorrhea
  • Diagnosis of exclusion
  • Seen in athletes, people on crash diets, patients with significant systemic illness, and those experiencing undue stress or anxiety
  • Predisposing features are as follows weight loss, particularly if features of anorexia nervosa are present or the BMI is <19 kg/m2.
  • Recent administration of depot medroxyprogesterone, which may suppress ovarian activity for 6 months to a year.
  • Use of dopamine agonists (eg, antidepressants) and major tranquilizers
  • Hyperthyroidism
  • In patients with weight loss related to anorexia nervosa, fine hair growth (lanugo) may occur all over the body, but it differs from hirsutism in its fineness and wide distribution.
Primary amenorrhea
Cushing syndrome
Hyperprolactinemia
Ovarian or adrenal tumor
Congenital adrenal hyperplasia
  • Congenital adrenal hyperplasia is a rare genetic condition resulting from 21-hydroxylase deficiency
  • The late-onset form presents at or around menarche Patients have features of androgenization and subfertility
  • Affects approximately 1% of hirsute patients More common in Ashkenazi Jews (19%), inhabitants of the former Yugoslavia (12%), and Italians (6%)
  • Associated with high levels of 17-hydroxyprogesterone
  • A short adrenocorticotropic hormone stimulation test with measurement of serum17-hydroxyprogesterone confirms the diagnostic assays of a variety of androgenic hormones help define other rare adrenal enzyme deficiencies, which present similarly to 21-hydroxylase deficiency
Anabolic steroid abuse
Hirsutism
  • Hirsutism is excessive facial and body hair, usually coarse and in a male pattern of distribution
  • Approximately 10% of women report unwanted facial hair
  • There is often a family history and typically some Mediterranean or Middle Eastern ancestry
  • May also result from use of certain medications, both androgens, and others including danazol, glucocorticoids, cyclosporine, and phenytoin
  • Menstrual history is normal
  • When the cause is genetic, the excessive hair, especially on the face (upper lip), is present throughout adulthood, and there is no virilization
  • When secondary to medications, the excessive hair is of new onset, and other features of virilization, such as acne and deepened voice, may be present

Differentials based on virilization and hirsutism

Polycystic ovarian syndrome must be differentiated from diseases that cause virilization and hirsutism in female:[5][6][7]

Disease name Steroid status Other laboratory Important clinical findings
Non-classic type of 21-hydroxylase deficiency Increased:
  • No symptoms in infancy and male
11-β hydroxylase deficiency Increased:

Decreased:

3 beta-hydroxysteroid dehydrogenase deficiency Increased:

Decreased:

Polycystic ovary syndrome
Adrenal tumors
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Ovarian virilizing tumor
  • Variable levels depends on tumor type
  • Older age
  • Rapidly progressive symptoms
Cushing's syndrome
Hyperprolactinemia

References

  1. Boscaro M, Barzon L, Fallo F, Sonino N (2001). "Cushing's syndrome". Lancet. 357 (9258): 783–91. doi:10.1016/S0140-6736(00)04172-6. PMID 11253984.
  2. Findling JW, Raff H (2001). "Diagnosis and differential diagnosis of Cushing's syndrome". Endocrinol. Metab. Clin. North Am. 30 (3): 729–47. PMID 11571938.
  3. Newell-Price J, Trainer P, Besser M, Grossman A (1998). "The diagnosis and differential diagnosis of Cushing's syndrome and pseudo-Cushing's states". Endocr. Rev. 19 (5): 647–72. doi:10.1210/edrv.19.5.0346. PMID 9793762.
  4. "How Is Metabolic Syndrome Diagnosed? - NHLBI, NIH".
  5. Hohl A, Ronsoni MF, Oliveira M (2014). "Hirsutism: diagnosis and treatment". Arq Bras Endocrinol Metabol. 58 (2): 97–107. PMID 24830586. Vancouver style error: initials (help)
  6. White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
  7. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=


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