Diagnosis of PCOS | All You Need To Know
PCOS is a heterogeneous disorder with a wide range of clinical presentations with different presentations at different times even in the same individual. The diagnosis of PCOS is usually made clinically by good history taking, physical examination, and relevant investigations.
Most patients presenting are women of the reproductive age group who are worried about their irregular menstruation, delayed conception and in some cases, excessive acne or hirsutism. They usually present to the gynecology clinic following a referral from their general practitioner.
Patients with polycystic ovaries may be asymptomatic.
The diagnosis of PCOS requires the presence of two out of the following three criteria as defined by the joint ESHRE (European Society for Human Reproduction and Embryology) and ASRM (American Society for Reproductive Medicine):
Oligo and/or anovulation
This usually manifests as amenorrhea, defined as the absence of menstruation for up to 6 months or oligomenorrhea, defined as a menstrual cycle length greater than 35 days but less than 6 months. Some patients describe their period as being irregular and may also present with primary or secondary Infertility.
These are excessive male hormone levels that may manifest clinically or be evident in blood tests. Patients may have acne, hirsutism (excessive hair growth of male pattern), or temporal balding. This should be differentiated from hypertrichosis which means excessive hair growth all over the body. There may be elevated male hormones like testosterone and androstenedione without accompanying clinical features of excessive androgen.
Polycystic ovary on ultrasound
This may be present on one ovary or both ovaries. A transvaginal ultrasound is preferable because it is more sensitive. This will require a doctor to put an ultrasound probe in your vagina to view your ovaries. The ovaries are usually enlarged (greater than 10 cubic centimetres) with multiple cysts 2-9 mm in size.
As the condition may be inherited in about 60% of cases, your doctor may also ask you of a family history of PCOS in a first-degree relative like your mother or sister. They may also ask for features of diabetes like excessive drinking of water, excessive urination, excessive eating and weight loss which may be associated with the disease.
Many patients would likely describe their menstruation as irregular and when the menstruation comes, it may be prolonged or heavy. There may be associated breast discharge and some patients with PCOS may also experience recurrent miscarriages.
You will also be asked about drug intake as some medications may be responsible for some of these symptoms. Your doctor will also ask you which of the symptoms you are worried about and if you would be desirous of conception in the near future as this will determine the medications that will be offered to you. Treatment is usually based on your symptoms.
On examination, although PCOS is more commonly associated with obesity, the patient may be of average size or even lean. Your doctor will compare your weight with your height to get your body mass index. A value greater than or equal to 25 is considered overweight.
This is particularly important as weight loss is key in the management of PCOS. There may be a male pattern of hair distribution involving the upper lip, jaw, chest and pubic region. Frontal balding and acne may also be present. Some patients also report deepening of their voices. Skin hyper-pigmentation known as acanthosis nigricans may be present in the armpit, neck or vulva.
There may be breastmilk discharge on the expression of the breast. Your blood pressure will be checked to rule out hypertension. Your doctor will also examine your abdomen to check for an abdominal mass that could be suggestive of a tumor.
The doctor may ask for blood tests to rule out endocrine and metabolic dysfunctions that need to be corrected. This will also rule out other important causes of hyperandrogenism like a tumor. The ratio of serum luteinizing hormone to follicle-stimulating hormone is typically elevated and testosterone and androstenedione may be elevated. Prolactin and estrogen may be elevated.
A fasting lipid profile and blood sugar may be done to check for abnormal lipid levels and diabetes as up to 30 to 40% of patients have impaired glucose tolerance and 10% may develop diabetes in the future. A transvaginal ultrasound will also exclude the presence of an overgrowth of the inner uterine lining (endometrial hyperplasia) which may result from the amenorrhoea.
Overall, the diagnosis requires a high index of suspicion by your doctor as patients’ presentations vary widely. The doctor usually takes into consideration future health risks of the patient when requesting the tests in order to identify, prevent and treat any identified complications of this disorder.