| Disease
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Differentiating Features
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| Pregnancy
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- Pregnancy always should be excluded in a patient with a history of amenorrhea
- Features include amenorrhea or oligomenorrhea, abnormal uterine bleeding, nausea/vomiting, cravings, weight gain (although not in the early stages and not if vomiting), polyuria, abdominal cramps and constipation, fatigue, dizziness/lightheadedness, and increased pigmentation (moles, nipples)
- Uterine enlargement is detectable on abdominal examination at approximately 14 weeks of gestation
- Ectopic pregnancy may cause oligomenorrhea, amenorrhea, or abnormal uterine bleeding with abdominal pain and sometimes subtle or absent physical symptoms and signs of pregnancy
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| Hypothalamic amenorrhea
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- 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
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| Primary amenorrhea
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- Causes include reproductive system abnormalities, chromosomal abnormalities, or delayed puberty
- If secondary sexual characteristics are present, an anatomic abnormality (eg, imperforate hymen, which is rare) should be considered
- If secondary sexual characteristics are absent, a chromosomal abnormality (eg, Turner syndrome ) or delayed puberty should be considered
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| Cushing syndrome
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- Cushing syndrome is due to excessive glucocorticoid secretion from the adrenal glands, either primarily or secondary to stimulation from pituitary or ectopic hormones; can also be caused by exogenous steroid use
- Features include hypertension, weight gain (central distribution), acne, and abdominal striae Patients have low plasma sodium levels and elevated plasma cortisol levels on dexamethasone suppression testing
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| Hyperprolactinemia
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- Mild hyperprolactinemia may occur as part of PCOS-related hormonal dysfunction
- Other causes include stress, lactation, and use of dopamine antagonists
- A prolactinoma of the pituitary gland is an uncommon cause and should be suspected if prolactin levels are very high (>200 ng/mL)
- Physical examination findings are usually normal
- As in patients with PCOS, hyperprolactinemia may be associated with mild galactorrhea and oligomenorrhea or amenorrhea; however, galactorrhea also can occur with nipple stimulation and/or stress when prolactin levels are within normal ranges
- A large prolactinoma may cause headaches and visual field disturbance due to pressure on the optic chiasm, classically a gradually increasing bitemporal hemianopsia
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| Ovarian or adrenal tumor
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- Benign ovarian tumors and ovarian cancer are rarely causes of excessive androgen secretion; adrenocortical tumors also can increase the production of sex hormones
- Abdominal swelling or mass, abdominal pain due to fluid leakage or torsion, dyspareunia, abdominal ascites, and features of metastatic disease may be present
- Features of androgenization include hirsutism, weight gain, oligomenorrhea or amenorrhea, acne, clitoral hypertrophy, deepening of the voice, and high serum androgen (eg, testosterone, other androgens) levels
- In patients with an androgen-secreting tumor, serum testosterone is not suppressed by dexamethasone
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| Congenital adrenal hyperplasia
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- 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 diagnosis Assays of a variety of androgenic hormones help define other rare adrenal enzyme deficiencies, which present similarly to 21-hydroxylase deficiency
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| Anabolic steroid abuse
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- Anabolic steroids are synthetic hormones that imitate the actions of testosterone by increasing muscle bulk and strength
- Should be considered if the patient is a serious sportswoman or bodybuilder
- Features include virilization (including acne and hirsutism), often increased muscle bulk in male pattern, oligomenorrhea or amenorrhea, clitoromegaly, gastritis, hepatic enlargement, alopecia, and aggression
- Altered liver function test results are seen
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| Hirsutism
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- 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
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