Case 10

Hirsutism
With her mother, an 18-year-old female (G0) presents to your office complaining of severe facial
hair involving her chin, neck, sideburn areas, chest, and lower abdomen. The girl is distressed
because of the hair growth. She has taken to shaving her face every day, sometimes twice in a day
if she goes out at night with her friends. She also is complaining of weight gain that her mother
estimates to be 40 lb over the past year. She sees a dermatologist for her acne, which is controlled
with topical medications. Her menstrual cycles have been sporadic since menarche occurred at age
14.

QUESTIONS
What is the differential diagnosis for this patient?
What other information would you like to know?
DISCUSSION
The differential diagnosis of hirsutism in a postmenarcheal adolescent includes hormonal conditions such
as polycystic ovary syndrome, nonclassic adrenal hyperplasia (NCAH), Cushing syndrome,
hyperprolactinemia, ovarian or adrenal tumors, and drug exposure (anabolic steroids, methyltestosterone,
phenytoin, danazol, cyclosporin, and minoxidil). The key information needed to refine the diagnosis is the
time course. If the onset of these symptoms dates back to menarche or even before menarche, then the
most likely diagnosis is PCOS or NCAH. If, however, the symptoms have been present for several
months and have increased noticeably over that time, then tumor or drug exposure is more likely. The
differential diagnosis for the sporadic menses since menarche includes PCOS, NCAH, Cushing
syndrome, hyperprolactinemia, tumor, and drug exposure. In addition, however, premature ovarian failure
and hypothalamic amenorrhea must also be considered. Typically, menses are irregular in the years

following menarche, but become regular in the majority of girls by 2 years out. If menses are still
unpredictable by 4 years out from menarche, as in this patient, then it is not normal and the etiology
should be determined.
Other information that would be helpful includes time of onset of hirsutism and rate of
progression. and also whether hirsutism preceded menarche. Onset and extent of acne would also be
helpful in determining etiology. Ethic background is important since NCAH is far more common in
individuals of Eastern European Jewish descent. Family history of similar symptoms would help since
PCOS is seen more commonly in siblings than in the general population (30% to 40% vs. 6% to 10%). It
would be important to know the cause of the large weight gain and if the hyperandrogenic symptoms
occurred before or after that.

Following the above considerations, more information is obtained from the patient. She is of
Eastern European Jewish descent. Her hair growth has been noticeable since just before menarche
and has been slowly getting progressively worse. She denies any galactorrhea or vasomotor
symptoms. She does not know why or how she gained so much weight. She does not play any
sports and denies regular exercise. Her examination reveals hirsutism on her face, chest, and low
abdomen with a modified Ferriman-Gallwey score of 12. She is 5 feet 4 inches tall and weighs 167
lb. The rest of her examination is normal.

QUESTIONS
Does this information help refine the differential?
What is the next step in evaluation?
DISCUSSION

The time course of the symptoms has been since or just before menarche. Therefore, tumor and drug
exposure are unlikely. The most likely causes are PCOS, NCAH, and Cushing syndrome. The Eastern
European Jewish background makes NCAH possible, but does not confirm the diagnosis. PCOS is still
the most common reason for these symptoms. The weight gain is relevant because it can make PCOS
symptoms worse and is associated with PCOS, but it is not diagnostic.
The next step is to evaluate the hormones to sort out the diagnosis. Since PCOS is basically a
diagnosis of exclusion, it would be a good idea to evaluate for NCAH and exclude the other
endocrinopathies. Laboratory testing should include (1) FSH and estradiol to evaluate for ovarian failure
and hypothalamic amenorrhea; (2) TSH and prolactin to evaluate for hyperprolactinemia and thyroid
disease; (3) total testosterone to evaluate for testosterone-producing tumor; and (4) 17hydroxyprogesterone to evaluate for NCAH due to 21-hydroxlase deficiency (this test must be performed
at 8 AM and in the follicular phase of the cycle to avoid confusion with normal diurnal variation in the
adrenal output and ovarian production of 17-hydroxyprogesterone in the luteal phase of the cycle). For
the diagnosis of PCOS, the clinical criteria include a history of oligomenorrhea, which this patient has,
and clinical evidence of hyperandrogenism, which she also has. Since the diagnosis only requires two of
the diagnostic criteria to make the diagnosis, once all other etiologies have been excluded, a pelvic
ultrasound is not necessary. A 24-hour urine for free cortisol is indicated to evaluate for Cushing
syndrome.

The laboratory testing reveals FSH = 6 mIU/mL, estradiol = 65 pg/mL, TSH = 2.2 mIU/mL,
prolactin nl, total testosterone = 80 ng/dL (high), 17-hydroxyprogesterone = 124, 24-hour urine for
free cortisol nl.

QUESTIONS

What do these laboratory results mean?

What is the diagnosis?
What is the next step?
DISCUSSION
The diagnosis is PCOS with the clinical presentation and the exclusion of NCAH, thyroid disease,
hyperprolactinemia, and Cushing syndrome. If the 17-hydroxyprogesterone level had been greater than
200 ng/dL then NCAH would be suggested, and an adrenocorticotropic hormone (ACTH) stimulation
test would be required to confirm the diagnosis.
The next step is to monitor for other health concerns with PCOS and to treat the symptoms.
Testing for diabetes or impaired glucose tolerance is indicated with a 2-hour glucose tolerance test.
Screening for hyperlipidemia is also indicated. Insulin resistance is present in approximately 60% of
women with PCOS. This can be evaluated by a fasting glucose-to-insulin ratio. A value of less than 7 in
adolescents is felt to represent insulin resistance.
Treatment of PCOS in this patient would involve weight management since she is overweight and
a loss of 7% to 10% of her body weight could improve her symptoms. Referral to a nutritionist is often
helpful. Any diet that restricts calories is beneficial, but with adolescents, a low-glycemic-index diet seems
to be adhered to the best. It would also be important to introduce a moderate exercise regimen. Control
of hirsutism is best managed by combining medical therapy with hair removal techniques. In the
adolescent it is important to start therapy sooner, since once hair is present it cannot be removed easily,
and medical therapy is effective in preventing hair growth. Medical management is best achieved by
combining combined hormonal contraception with antiandrogen therapy. Any oral contraceptive or
hormonal contraceptive that is tolerated is acceptable; none has been proven to be better that any others
for controlling hirsutism. Antiandrogen therapy with spironolactone is added. Hair removal with
electrolysis or laser is important to remove the hair that is already present. Laser is best suited to

individuals with fair skin and dark hair. Daily hair management is accomplished by shaving or plucking.
These techniques do not increase the rate of hair growth.