Polycystic Ovary Syndrome (PCOS) is the most common endocrine disorder in women. Its prevalence varies among populations and is approximately between 15–18%. Clinical manifestations are variable...

Polycystic Ovary Syndrome Diagnostic Criteria and Phenotypes

The most common signs of Polycystic Ovary Syndrome are as follows:

• Oligo/anovulation
• Hyperandrogenism (Clinical/biochemical)
• Polycystic Ovary Morphology (PCOM)

Oligo/anovulation is defined as having 35 or more days between two menstruations (periods), or no menstruation for 200 days (approximately 6 months).

Hyperandrogenism should be defined as the detection of one of the following findings on physical examination: hirsutism (male-pattern hair growth on the body), acne (pimple formation), or alopecia (male-pattern hair loss), or an increase in the levels of one of the androgen hormones: free testosterone (sT), dehydroepiandrosterone (DHEAS), and androstenedione (A4).

The most common finding of Clinical Hyperandrogenism in PCOS is Hirsutism. Hirsutism is diagnosed by scoring hair growth in nine different body regions according to the Ferriman-Gallway Scale. A score above 8 is considered Hirsutism.

Polikistik Over Morfolojisi, over (yumurtalık) korteksinde inci tanesi şeklinde dizilmiş en az 12 tane 2-9 mm çapında follikül veya artmış over volümü >10 ml olarak tanımlanır. (Şekil 1 – 2).

Figure 1: Tipik PKOS görünümü kortekste inci tanesi gibi dizilmiş küçük foliküller ve artmış hiperekojen stroma.

Figure 2: 3D (three-dimensional) Polycystic Ovary Morphology in ultrasonography

Currently, as recommended by the NIH (National Institutes of Health) and ASRM/ESHRE (American Society for Reproductive Medicine / European Society of Human Reproduction and Embryology), Polycystic Ovary Syndrome is diagnosed by the presence of at least two of the following findings: oligo/anovulation, hyperandrogenism, and polycystic ovary morphology.

Obesity, insulin resistance, hyperinsulinemia, high LH levels, and a high LH/FSH ratio are also important findings that can accompany this syndrome.

In patients where we suspect Polycystic Ovary Syndrome, it's crucial to differentiate it from other diseases that mimic its characteristics. This ensures the correct approach and treatment for the patient. The diseases to consider in differential diagnosis, along with important diagnostic tests, are listed below.

Androgen-secreting tumors

Testosteron > 200 ng/dl
DHEA-S >700 mcg/dl

HAIR-AN syndrome

Basal fasting insulin > 25 μIU/ml, 2nd hour OGTT > 300 μIU/ml
Testosterone > 150 ng/dl

Cushing's Syndrome

24-hour urinary free cortisol (>300 μg)
Hypo/hyperthyroidism
TSH >4 mIU/L

Hyperprolactinemia

Prolactin >24 ng/mL

Non-classic Adrenal Hyperplasia

Basal serum 17-OHP (> 200 ng/dL)—ACTH stim test

The form (Figure 3) showing the ovarian morphology, oligo/anovulation, and hyperandrogenism parameters that we evaluate in our center for the diagnosis of PCOS.

Figure 3: Parameters evaluated in the approach to PCOS diagnosis.

Table 1. Phenotyping according to PCOS Diagnostic Criteria

Infertility is a common presenting complaint for women with PCOS. Although the primary cause of infertility appears to be oligo/anovulation, endometrial changes hindering implantation (embryo attachment) and obesity are also factors contributing to infertility.

For women with Polycystic Ovary Syndrome presenting with infertility, if no other cause is found, management of PCOS-related infertility is necessary.

PCOS-related Infertility Management

Lifestyle modification is the first-line treatment for both obese and lean women with PCOS. The combination of diet and exercise improves the hormonal profile, increases the response to assisted reproductive technology treatments, and reduces the risk of complications during pregnancy.

Clomiphene citrate (CC) is the first-line pharmacological treatment for ovulation induction (ovarian stimulation phase). It is started between days 2-5 of the menstrual cycle. A 5-day treatment is planned with a starting dose of 50mg/day.

Aromatase Inhibitors can be preferred as a first-line treatment option in cases of clomiphene citrate failure or resistance. They are started between days 3-7 of the menstrual cycle. A 5-day treatment is planned with a starting dose of 2.5mg/day.

Metformin is an insulin-sensitizing agent that helps improve PCOS symptoms. When started 3 months before fertility treatment and continued for 9 months after the treatment begins, it contributes to higher pregnancy and live birth rates.

Gonadotropins are used as a second-line treatment in cases of clomiphene citrate failure or resistance. They are started between days 2-5 of the menstrual cycle. Low-dose treatment is planned to reduce the risk of ovarian hyperstimulation and multiple pregnancies.

In-vitro fertilization (IVF) is considered a third-line treatment for PCOS-related infertility. It should be preferred when there is no response to ovulation induction treatments or when additional infertility factors are present.