POLYCYSTIC OVARY SYNDROME: Causes, Risk Factors, Symptoms, Diagnosis, Management by NJE

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Polycystic ovary syndrome (PCOS) consists of amenorrhea, hirsutism, insulin resistance, and obesity in association with enlarged, multicystic ovaries.

Prevalence: Up to 5% of women; 30% of secondary amenorrhea. 

The most common hormonal disorder among women of reproductive age.

Predominant Age: Begins at menarche.

Genetics: No genetic pattern established; suggestion of increased family tendency.

CAUSES OF POLYCYSTIC OVARY SYNDROME

The exact pathophysiology of PCOS is not well established, but the increased amplitude of gonadotropin-releasing hormone (GnRH) pulsation and abnormal secretion of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) during puberty are considered to result in excess androgen. Elevated levels of LH persist and may be used to help establish the diagnosis. Insulin resistance is a prominent aspect of this syndrome.

RISK FACTORS OF POLYCYSTIC OVARY SYNDROME

1. Borderline adrenal hyperplasia

2. occult hypothyroidism

3. childhood obesity.

SIGNS AND SYMPTOMS OF POLYCYSTIC OVARY SYNDROME

• Anovulation and amenorrhea (75%–80%)

• Infertility (75%)

• Excessive hair growth, primarily along the angle of the jaw, upper lip, and chin (70%)

• Obesity (50%; “apple-shaped” obesity centred around the lower half of the torso)

• Acanthosis nigricans

• Acne

DIAGNOSTIC STUDY OF POLYCYSTIC OVARY SYNDROME

Differential Diagnosis

• Virilization (especially when hirsutism is in a male pattern)

• Familial hypertrichosis

• Cushing disease (truncal obesity, facial rounding, cervicodorsal fat deposition [buffalo hump], and red or purple striae are often not fully developed)

Associated Conditions: Increased risk for cardiovascular disease (adverse lipid profiles), diabetes (insulin resistance in 50% of patients), hypertension, and infertility.

Workup and Evaluation

Laboratory: Elevated levels of LH may be used to help establish the diagnosis (a two-to-one ratio of LH to FSH is considered diagnostic). Evaluation for possible virilizing process (prolactin, FSH, thyroid screening). Patients suspected of having adrenal sources of hyperandrogenicity may be screened by measuring 24-hour urinary-free cortisol, by performing adrenocorticotropin hormone (ACTH) stimulation tests, or an overnight dexamethasone suppression test. Serum testosterone (total) is generally 70–120 ng/mL and androstenedione is 3–5 ng/mL. Dehydroepi androsterone sulfate (DHEA-s) is elevated in approximately 50% of patients.

Imaging: Ultrasonography (abdominal or transvaginal) may identify ovarian enlargement or the presence of multiple small follicles (12 or more follicles per ovary). Magnetic resonance imaging (MRI) or computed tomography (CT) may be used to evaluate the adrenal glands.

Special Tests: None indicated.

Diagnostic Procedures: History, physical examination, imaging and laboratory evaluations. May be confirmed at laparoscopy, but seldom required for diagnosis. Hyperandrogenism is based on clinical signs and does not require laboratory confirmation.

Pathologic Findings

The ovaries are enlarged with a thickened white capsule. They contain multiple follicles in varying stages of development. Luteinization of theca cells may be present.

MANAGEMENT OF POLYCYSTIC OVARY SYNDROME

Nonpharmacologic

General Measures: Evaluation. Weight loss is often associated with resolution of symptoms and a return of menstrual function in patients with mild or early PCOS.

Specific Measures: Medical therapy has replaced surgical treatment. Treatment depends on desire for pregnancy; if pregnancy is desired, then ovulation induction may be required.

Diet: No specific dietary changes indicated; weight loss or control desirable.

Activity: No restriction.

Patient Education: American College of Obstetricians and Gynecologists Patient Education Pamphlet AP121 (Polycystic Ovary Syndrome).

Drug(s) of Choice

• Combination oral contraceptives (less than 50-mg formulation and a progestin other than norgestrel).

• If DHEA-s is elevated, dexamethasone 0.25 to 0.5 mg PO every bedtime may be added to oral contraceptives.

• Spironolactone 100–200 mg PO daily.

• Metformin 1500 mg/day as an adjunctive treatment for ovulation induction (considered now as first-line therapy for PCOS).

Contraindications: Pregnancy (spironolactone is a category X drug and patients of child-bearing potential must use reliable contraception).

Alternative Drugs

GnRH analogs and clomiphene citrate may be used.

FOLLOW-UP

Patient Monitoring: Normal health maintenance once diagnosis and management have been implemented. There is an increased risk for diabetes in patients with polycystic ovaries. Weight control and contraception should also be addressed.

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