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Some other blood tests are suggestive but not diagnostic. The ratio of LH (Luteinizing hormone) to FSH (Follicle-stimulating hormone), when measured in international units, is elevated in women with PCOS. Common cut-offs to designate abnormally high LH/FSH ratios are 2:1 or 3:1 as tested on Day 3 of the menstrual cycle. The pattern is not very sensitive; a ratio of 2:1 or higher was present in less than 50% of women with PCOS in one study. There are often low levels of sex hormone-binding globulin, in particular among obese or overweight women.
Anti-Müllerian hormone (AMH) is increased in PCOS, and may become part of its diagnostic criteria.
Other causes of irregular or absent menstruation and hirsutism, such as hypothyroidism, congenital adrenal hyperplasia (21-hydroxylase deficiency), Cushing's syndrome, hyperprolactinemia, androgen secreting neoplasms, and other pituitary or adrenal disorders, should be investigated.
Although no large studies showing the long term outcomes for women with hyperthecosis exist, a diagnosis of hyperthecosis may suggest an increased risk for metabolic complications of hyperlipidemia and type 2 diabetes . In postmenopausal women, hyperthecosis may also contribute to the pathogenesis of endometrial polyp, endometrial hyperplasia, and endometrioid adenocarcinoma due to the association of hyperestrinism (excess estrins in the body) and hyperthecosis. Treatment for hyperthecosis is based upon each case, but may range from pharmacological interventions to surgical.
Female patients may show symptoms of hyperandrogenism in their early life, but physicians become more concerned when the patient is in her late teens or older.
Hyperandrogenism is most often diagnosed by checking for signs of hirsutism according to a standardized method that scores the range of excess hair growth.
Checking medical history and a physical examination of symptoms are used for an initial diagnosis. Patient history assessed includes age at thelarche, adrenarche, and menarche; patterns of menstruation; obesity; reproductive history; and the start and advancement of hyperandrogenism symptoms. Patterns of menstruation are examined since irregular patterns may appear with hirsutism. Family history is also assessed for occurrences of hyperandrogenism symptoms or obesity in other family members.
A laboratory test can also be done on the patient to evaluate levels of FSH, LH, DHEAS, prolactin, 17OHP, and total and free testosterone in the patient's blood. Abnormally high levels of any of these hormones help in diagnosing hyperandrogenism.
A complete physical evaluation should be done prior to initiating more extensive studies, the examiner should differentiate between widespread body hair increase and male pattern virilization. One method of evaluating hirsutism is the Ferriman-Gallwey Score which gives a score based on the amount and location of hair growth on a woman. After the physical examination, laboratory studies and imaging studies can be done to rule out further causes.
Diagnosis of patients with even mild hirsutism should include assessment of ovulation and ovarian ultrasound, due to the high prevalence of polycystic ovary syndrome (PCOS), as well as 17α-hydroxyprogesterone (because of the possibility of finding nonclassic 21-hydroxylase deficiency). Many women present with an elevated serum dehydroepiandrosterone sulfate (DHEA-S) level. Levels greater than 700 μg/dL are indicative of adrenal gland dysfunction, particularly congenital adrenal hyperplasia due to 21-hydroxylase deficiency. However, PCOS and idiopathic hirsutism make up 90% of cases.
Other blood value that may be evaluated in the workup of hirsutism include:
- androgens; androstenedione, testosterone
- thyroid function panel; thyroid-stimulating hormone (TSH), triiodothyronine (T3), thyroxine (T4)
- prolactin
If no underlying cause can be identified, the condition is considered idiopathic.
Since risk factors are not known and vary among individuals with hyperandrogegism, there is no sure method to prevent this medical condition. Therefore, more longterm studies are needed first to find a cause for the condition before being able to find a sufficient method of prevention.
However, there are a few things that can help avoid long-term medical issues related to hyperandrogenism like PCOS. Getting checked by a medical professional for hyperandrogenism; especially if one has a family history of the condition, irregular periods, or diabetes; can be beneficial. Watching your weight and diet is also important in decreasing your chances, especially in obese females, since continued exercise and maintaining a healthy diet leads to an improved menstrual cycle as well as to decreased insulin levels and androgen concentrations.
The etiology of hyperthecosis is unknown, however evidence suggests a possibility of genetic transmission. Hyperthecosis has been documented in familiar patterns. Insulin resistance may also play a role in the pathogenesis of hyperthecosis. Women with hyperthecosis have a significant degree of insulin resistance and insulin may stimulate the ovarian stromal androgen synthesis.
Many women with unwanted hair seek methods of hair removal. However, the causes of the hair growth should be evaluated by a physician, who can conduct blood tests, pinpoint the specific origin of the abnormal hair growth, and advise on the treatment.
Ovarian diseases can be classified as endocrine disorders or as a disorders of the reproductive system.
If the egg fails to release from the follicle in the ovary an ovarian cyst may form. Small ovarian cysts are common in healthy women. Some women have more follicles than usual (polycystic ovary syndrome), which inhibits the follicles to grow normally and this will cause cycle irregularities.
Other conditions include:
- Ovarian cancer
- Luteoma
- Hypogonadism
- Hyperthecosis
Acanthosis nigricans should be distinguished from the casal collar appearing in pellagra.
Acanthosis nigricans is typically diagnosed clinically. A skin biopsy may be needed in unusual cases. If no clear cause is obvious, it may be necessary to search for one. Blood tests, an endoscopy, or X-rays may be required to eliminate the possibility of diabetes or cancer as the cause.
On biopsy, hyperkeratosis, epidermal folding, leukocyte infltration, and melanocyte proliferation may be seen.
In "Atlas of Human Sex Anatomy (1949)" by Robert Latou Dickinson, the "typical" clitoris is defined as having a crosswise width of 3 to 4 mm (0.12 - 0.16 inches) and a lengthwise width of 4 to 5 mm (0.16 - 0.20 inches). On the other hand, in Obstetrics and Gynecology medical literature, a frequent definition of clitoromegaly is when there is a clitoral index (product of lengthwise and crosswise widths) of greater than 35 mm (0.05 inches), which is almost twice the size given above for an "average" sized clitoral hood.
Early surgical reduction of clitoromegaly via full or partial clitoridectomy is controversial, and intersex women exposed to such treatment have spoken of their loss of physical sensation, and loss of autonomy. In recent years, human rights institutions have criticized early surgical management of such characteristics.
In 2013, it was disclosed in a medical journal that four unnamed elite female athletes from developing countries were subjected to gonadectomies and partial clitoridectomies after testosterone testing revealed that they had an intersex condition. In April 2016, the United Nations Special Rapporteur on health, Dainius Pūras, condemned this treatment as a form of female genital mutilation "in the absence of symptoms or health issues warranting those procedures."