Several rare syndromes can cause hirsutism in a few women

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Rare Hirsutism Syndromes

There are many women in this world who suffer from the socially and psychologically distressing disease called hirsutism. Primary symptoms of hirsutism are excess and unwanted hair growth in a male-like pattern in women, in the face and body parts like the neck, chest and lower abdomen etc. Estimates suggest that it affects between 5% and 15% of women, varying according to characteristics. Atleast 5% of women of reproductive age suffer from this ailment.

This distressful problem could have a number of serious underlying ailments as its causes. Evaluation and diagnosis should obviously be done by a medical expert. Polycystic Ovary Syndrome is one of the main ailments that cause hirsutism. Let us check out the causes in general and then isolate the rare syndromes in details.

Underlying diseases causing hirsutism

There are various diseases that can cause hirsutism, which can be grouped as androgenic, non-androgenic disorders and idiopathic causes. Since androgens are the main hormones that regulate hair growth and development, this categorization is obvious.

1. Androgenic causes

Polycystic Ovarian Syndrome (PCOS): This is the most common cause of hirsutism. However, other diagnoses need to be excluded before any conclusions. A familial history of unwanted hair production might be a strong indicator. The major symptoms include irregular menses, obesity, infertility, diabetes, hypertension, family record of PCOS. Clinical examinations should include fasting glucose, insulin and lipid profile, blood pressure and ultrasound.

Hyperandrogenism: Major symptoms are regular menses, acne and hirsutism without noticeable endocrine cause. Clinical tests include those for increased androgen levels and serum progesterone in luteal phase. This apart, checking for a previous use of 13-cis retinoic acid for acne cure is a helpful indicator of hyperandrogenism.

Hypothyroidism: Symptoms are weakness, weight increase, record of thyroid ablation, untreated hypothyroidism and amenorrhea. Must involve a test for TSH.

The hyperandrogenic insulin-resistant acanthosis nigricans syndrome (HAIR-AN): Main symptoms include brown velvety hyper-pigmented skin (acanthosis nigricans), obesity, hypertension, hyperlipidemia, established family history of diabetes. Important examinations must consist of fasting glucose and lipid profile, BP, fasting insulin level or insulin level on 3-hour glucose tolerance test. Although acanthosis nigricans is a manifestation of insulin resistance and hyperandrogenism (HAIR-AN syndrome), it is prevalent in around 5% of such cases. Many other ailments with acanthosis nigricans, hyperandrogenism, insulin-resistant diabetes, and distinctive phenotypic characteristics have also been traced. They include lipoatrophic diabetes, leprechaunism (intrauterine development disorder, gonadal swelling, elfin facies etc), Rabson-Mendenhall syndrome (peculiar facies, pineal hypertrophy, dental precocity, thickened nails, and ovarian swelling) and type A syndrome (adolescent onset, virilization, and diabetes mellitus).

21-hydroxylase non-classic I adrenal hyperplasia (late-onset CAH): This syndrome is marked by acute hirsutism or virilization, established family history of CAH, stunted height and signs of masculinity. Major medical evaluation are 17-HP level before and after ACTH stimulation test >10 ng/dL, CYP21 genotyping.

21 -hydroxylase-deficient congenital adrenal hyperplasia: The signs are more or less similar to late-onset CAH, with congenital virilization. Key lab test is the 17-HP levels.

Hyperprolactinemia: It is a rare cause of hirsutism and additional tests should first rule out other disorders. Otherwise, indicators are amenorrhea, galactorrhea, infertility and clinical test is that for prolactin.

Androgenic tumors: This is also a rare cause of hirsutism. A speedy hair growth pattern and virilization over a span of 3–6 months is a major sign. PCOS triggered hirsutism develops over several years. This apart, the patient should be checked for pelvic masses. Medical examination should include pelvic ultrasound or abdomen/pelvic CT scan and a serum testosterone and DHEAS.

Cushing’s syndrome: Rounded facies, a buffalo hump, truncal obesity, hypertension, purple striae and proximal muscle infirmity could suggest Cushing’s syndrome. A CT scan for review of the adrenal glands, a 24-hour urinary free cortisol and blood pressure tests are the main clinical investigations.

Hyperthecosis: Clinical imaging can help detect hyperthecosis that causes hirustism. An enlarged ovary without follicular formations is the main indicator. A testosterone examination is also necessary to confirm it. For if circulating testosterone test result is 2.5 or more times the upper limits of normal or 200 or more ng/dL, it could be androgen-secreting tumors. However, only 20 to 30 percent of women recording such levels will have androgenic tumors, since most will have either a hyperthecosis or hilar cell hyperplasia. One can also use a gonadotropin-releasing hormone agonist in the evaluation of postmenopausal virilization due to ovarian hyperthecosis.

2. Non-androgenic causes

Hirsutism caused by factors other than androgenic disorders, is less prevalent and can be divided as below:

  • Acromegaly: Amenorrhea, galactorrhea, infertility could be general expressions. However, one needs to check for other problems first since it is a rare cause of hirsutism. The evaluator should conduct tests for prolactin.
  • Chronic skin ailments: Since a major function of the hair is to protect the skin, skin ailments can lead to hirsutism. Clinical evaluation for skin diseases is necessary.
  • Non-androgenic anabolic drugs also often trigger a general growth of many tissues, particularly hair. A proper evaluation must include a detailed drug and medication history including use of Danazol, Norplant, and anabolic steroids that have hirsutism as a possible side effect. One must also exclude the possibility of vellus hypertrichosis.

3. Idiopathic hirsutism

The idiopathic factor is the second most common cause of hirsutism after PCOS. Though a lot more research needs to be conducted in this field, cases with this kind of hirsutism show a probable excess peripheral 5alpha-reductase action in skin and hair follicle, other variations in androgen metabolism or greater sensitivity of the androgen receptor but regular menses and normal serum androgen levels

If the most prevalent ailments that cause hirsutism is ruled out by thorough medical examination, evaluation of the rare syndromes must be undertaken with great care and details.