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PCOD / PCOS - Signs and Symptoms

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Diagnostic Criteria (Rotterdam 2003 - 2 of 3 required)

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Signs and Symptoms by Category

1. Menstrual Irregularities

• Oligomenorrhea - infrequent periods (cycles >35 days)
• Amenorrhea - absent periods (primary or secondary)
• Irregular/unpredictable menstrual cycles
• Anovulation/oligo-ovulation - some women may have regular cycles but still not ovulate (21% of hyperandrogenic women with regular cycles are anovulatory)
• Onset typically at menarche - abnormal menses from puberty is the classic pattern

2. Hyperandrogenic Signs (Clinical)

• Hirsutism - excess body/facial hair in male distribution; occurs in ~70% of PCOS patients in the US (only 10-20% in Asian populations due to differences in 5α-reductase activity)
• Acne - especially persistent adult acne
• Male-pattern alopecia - diffuse scalp hair thinning, especially at crown
• Clitoromegaly (rare, more with virilization)

3. Metabolic Features

• Obesity - present in >50% of PCOS patients; characteristically central/android distribution (abdominal fat deposition, higher waist-to-hip ratio)
• Insulin resistance (IR) - very common; leads to hyperinsulinemia, which worsens androgen production
• Impaired glucose tolerance / Type 2 diabetes - significantly increased risk
• Dyslipidemia - elevated total cholesterol, triglycerides, LDL; low HDL (the most characteristic alteration is decreased HDL2α)
• Acanthosis nigricans - velvety, dark skin patches (neck, axilla, groin) - marker of insulin resistance

4. Reproductive / Fertility Consequences

• Anovulatory infertility - PCOS is the most common cause of anovulatory infertility in developed countries
• Recurrent early miscarriage - increased risk
• Pregnancy complications - gestational diabetes, gestational hypertension, preeclampsia, preterm birth

5. Cardiovascular & Long-term Risks

• Hypertension - incidence increases with age, reaching 40% by perimenopause
• Increased atherosclerosis risk
• ~7-fold increased risk of myocardial infarction
• Obstructive sleep apnea - underrecognized association
• Impaired fibrinolysis - elevated plasminogen activator inhibitor (PAI) levels

6. Psychological Features

• Depression
• Anxiety
• Body image concerns

7. Pelvic / Sonographic Findings

• Enlarged ovaries - 2-5x normal size on ultrasound
• String of pearls / necklace sign - multiple small follicles arranged peripherally
• Increased ovarian stroma
• Thickened ovarian cortex on gross pathology (white, fibrotic)

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PCOS Diagnostic Algorithm

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Key Laboratory Findings

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Four PCOS Phenotypes (Rotterdam)

1. HA + Ovarian dysfunction + PCO morphology (classic, most severe)
2. HA + Ovarian dysfunction (without PCO morphology)
3. HA + PCO morphology (with regular cycles)
4. Ovarian dysfunction + PCO morphology (without HA)

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Conditions to Rule Out

• Hyperprolactinemia
• Non-classic congenital adrenal hyperplasia (measure basal follicular-phase 17-OHP)
• Cushing's syndrome
• Androgen-secreting neoplasm (ovarian or adrenal)
• Thyroid disease (hypo/hyperthyroidism)
• Hypergonadotropic or hypogonadotropic disorders

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Lipoma - Detailed Explanation

Definition

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Epidemiology

• Affects adults predominantly, with peak incidence in the 5th to 7th decades of life
• No sex predilection (affects males and females equally)
• Multiple lipomas are uncommon; solitary lesions are the rule
• Rare in children
• Prevalence: affects approximately 1% of the general population

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Classification / Types

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Etiology & Pathogenesis

• 12q13-15 aberrations - includes the HMGA2 gene (at 12q14.3), which plays a key role in pathogenesis; various HMGA2 fusion genes have been reported
• 6p21-23 rearrangements
• 13q deletions

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Clinical Features

Common Presentation

• Painless, slowly growing subcutaneous mass
• Soft, fluctuant, compressible on palpation
• Mobile - slides under the fingers ("slipping sign")
• Well-defined margins
• Doughy or rubbery consistency
• Overlying skin is normal in color and texture

Typical Locations

• Trunk (back, shoulders)
• Neck
• Proximal extremities (upper arms, thighs)
• Less common: hands, feet (thenar eminence in the hand)
• Involvement of hands and feet is uncommon

Size

• Superficial (subcutaneous): usually <5 cm
• Deep-seated (intramuscular/intermuscular): can be considerably larger

When Lipomas Are Painful

• Nerve compression in restricted spaces (carpal tunnel, tarsal tunnel, cubital tunnel)
• Angiolipoma subtype (painful by nature)
• Very large lesions compressing adjacent structures

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Histopathology

• Yellow, lobulated, soft fatty tissue
• Well-circumscribed with a thin fibrous capsule
• Multiple white/yellow lobules separated by fine septa

• Composed of mature adipocytes with only slight variation in size/shape
• No nuclear atypia
• Thin, hypocellular fibrous septa containing thin-walled capillaries
• Lobulated architecture
• Immunohistochemistry: Tumor cells are negative for p16, MDM2, and CDK4 (important to distinguish from atypical lipomatous tumor/liposarcoma)
• May show posttraumatic changes: fat necrosis, inflammation, histiocytes

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Syndromes Associated with Multiple Lipomas

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Imaging

X-Ray

• Large lipomas appear as areas of relative radiolucency compared to surrounding soft tissue
• Small lesions invisible on X-ray
• Foci of calcification or ossification visible in ~11% of cases

Ultrasound

• Elliptical, often well-defined mass
• Long axis and internal septations oriented parallel to skin surface
• Variable reflectivity (often more reflective than surrounding fat)
• Compressible on light probe pressure
• May or may not appear encapsulated

CT Scan

• Mass of density similar to subcutaneous fat (negative Hounsfield units, approximately -65 to -120 HU)
• Rarely needed for superficial lesions
• More useful for deep/retroperitoneal lesions

MRI (Gold Standard for Deep Lesions)

• Isointense to subcutaneous fat on both T1 and T2 weighted images
• Low signal on STIR (fat suppression sequences null the signal)
• Signal suppressed on T2 fat-saturation sequences
• Fine thin septa (<2 mm) may be visible - this distinguishes lipoma from atypical lipomatous tumor (which has thick or nodular enhancing septa)
• Fine septa show little or no gadolinium enhancement

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Differential Diagnosis

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Treatment

Conservative (Observation)

• Asymptomatic small lipomas do not require treatment
• Monitoring is acceptable if the diagnosis is clinically certain

Surgical Excision (Definitive)

• Indications: symptomatic (pain, nerve compression), large, rapidly growing, cosmetically bothersome, or uncertain diagnosis
• Technique:
  • Incise skin over the lesion
  • Squeeze the surrounding tissue to make it bulge forward
  • Blunt or sharp dissection along the cleavage plane (enucleation)
  • For large/multilocular lesions: meticulous hemostasis, close dead space or insert suction drain
  • Local or general anesthesia depending on size/location
• Cure rate: near 100% for conventional subcutaneous lipomas
• Recurrence: Rare for conventional lipomas; up to 20% for intramuscular lipomas

Liposuction

• Suitable for soft, subcutaneous lipomas in cosmetically sensitive areas
• Higher recurrence rate than open excision

Steroid Injection (Triamcinolone)

• Causes local fat atrophy; can reduce size of small lipomas
• Not curative, but useful in selected patients who decline surgery

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Prognosis

• Classical subcutaneous lipomas: entirely benign, recur only rarely after excision
• Intramuscular lipomas: higher local recurrence rate (up to 20%)
• Malignant transformation (lipoma → liposarcoma): an exceedingly rare phenomenon
• No risk of metastasis

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Key Distinguishing Points: Lipoma vs Liposarcoma

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