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. 2013 Nov 20;98(12):4565–4592. doi: 10.1210/jc.2013-2350

Table 4.

Diagnoses to Consider Excluding in Select Women, Depending on Presentation

Other Diagnosesa Suggestive Features in the Presentation Tests to Assist in the Diagnosis Reference for Further Evaluation and Treatment of Abnormal Findings; First Author, Year (Ref.)
Pregnancy Amenorrhea (as opposed to oligomenorrhea), other signs and symptoms of pregnancy including breast fullness, uterine cramping, etc Serum or urine hCG (positive) Morse, 2011 (17)
HA including functional HA Amenorrhea, clinical history of low body weight/BMI, excessive exercise, and a physical exam in which signs of androgen excess are lacking; multifollicular ovaries are sometimes present Serum LH and FSH (both low to low normal), serum estradiol (low) Wang, 2008 (18)
Primary ovarian insufficiency Amenorrhea combined with symptoms of estrogen deficiency including hot flashes and urogenital symptoms Serum FSH (elevated), serum estradiol (low) Nelson, 2009 (296)
Androgen-secreting tumor Virilization including change in voice, male pattern androgenic alopecia, and clitoromegaly; rapid onset of symptoms Serum T and DHEAS levels (markedly elevated), ultrasound imaging of ovaries, MRI of adrenal glands (mass or tumor present) Carmina, 2006 (16)
Cushing's syndrome Many of the signs and symptoms of PCOS can overlap with Cushing's (ie, striae, obesity, dorsocervical fat (ie, buffalo hump, glucose intolerance); however, Cushing's is more likely to be present when a large number of signs and symptoms, especially those with high discriminatory index (eg, myopathy, plethora, violaceous striae, easy bruising) are present, and this presentation should lead to screening 24-h urinary collection for urinary free cortisol (elevated), late night salivary cortisol (elevated), overnight dexamethasone suppression test (failure to suppress morning serum cortisol level) Nieman, 2008 (19)
Acromegaly Oligomenorrhea and skin changes (thickening, tags, hirsutism, hyperhidrosis) may overlap with PCOS. However, headaches, peripheral vision loss, enlarged jaw (macrognathia), frontal bossing, macroglossia, increased shoe and glove size, etc, are indications for screening Serum free IGF-1 level (elevated), MRI of pituitary (mass or tumor present) Melmed, 2009 (20)

Abbreviations: DHEAS, dehydroepiandrosterone sulfate; HA, hypothalamic amenorrhea; hCG, human chorionic gonadotropin; MRI, magnetic resonance imaging.

a

Additionally there are very rare causes of hyperandrogenic chronic anovulation that are not included in this table because they are so rare, but they must be considered in patients with an appropriate history. These include other forms of congenital adrenal hyperplasia (eg, 11β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase), related congenital disorders of adrenal steroid metabolism or action (eg, apparent/cortisone reductase deficiency, apparent DHEA sulfotransferase deficiency, glucocorticoid resistance), virilizing congenital adrenal hyperplasia (adrenal rests, poor control, fetal programming), syndromes of extreme IR, drugs, portohepatic shunting, and disorders of sex development.