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PCOS polycystic ovary syndrome practical examination case presentation clinical features

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PCOS — Practical Examination Case


CASE PRESENTATION

Patient: Miss S.K., 24-year-old unmarried female Chief Complaints:
  1. Irregular menstrual cycles for 3 years
  2. Excessive facial and body hair for 2 years
  3. Weight gain for 2 years
  4. Multiple acne lesions on face and back

HISTORY OF PRESENT ILLNESS

A 24-year-old woman presents with oligomenorrhea (cycles every 35–90 days, lasting 2–3 days), excessive hair growth on the upper lip, chin, chest, and abdomen, and progressive weight gain of 12 kg over 2 years. She also reports acne unresponsive to topical treatment. Menarche was at age 13; her cycles were irregular from the start. She has no galactorrhea, no heat/cold intolerance, no symptoms of Cushing's syndrome. She is not on any medications.
Past History: No major illnesses. No surgeries. Family History: Mother has type 2 diabetes; sister has irregular periods. Personal/Social: Not sexually active. No tobacco, alcohol, or drug use.

EXAMINATION FINDINGS

General

  • Obese female, BMI 32 kg/m²
  • Acanthosis nigricans at the nape of neck and axillae (marker of insulin resistance)

Vitals

  • BP: 128/82 mmHg | PR: 82/min | RR: 16/min | Temp: 37°C

Dermatological (Androgen Excess Signs)

  • Ferriman-Gallwey hirsutism score: 14 (≥8 = clinically significant hirsutism)
  • Comedonal and inflammatory acne on face and upper back
  • Moderate androgenic alopecia (bitemporal thinning)
  • Acanthosis nigricans in skin folds

Abdominal

  • Central obesity; waist circumference 92 cm
  • No palpable abdominal/pelvic mass

Gynaecological

  • Uterus normal sized; bilateral ovaries slightly enlarged (palpable per abdominally)

INVESTIGATIONS

InvestigationResultSignificance
Serum total testosterone72 ng/dL (elevated; normal <50)Hyperandrogenemia
LH : FSH ratio2.8 : 1 (>2:1)Classic PCOS pattern
Serum LH14.2 IU/L (elevated)Inappropriately elevated
Serum FSH5.1 IU/L (low-normal)Relatively suppressed
Fasting insulin28 µIU/mL (elevated)Hyperinsulinemia
Fasting glucose98 mg/dLImpaired fasting glucose trend
HOMA-IR6.8 (>2.5 = IR)Insulin resistance
HbA1c5.7%Pre-diabetes range
Prolactin14 ng/mL (normal)Excludes hyperprolactinemia
TSH2.1 mIU/L (normal)Excludes thyroid disorder
DHEA-SMildly elevatedAdrenal androgen contribution
17-OH Progesterone1.2 ng/mL (normal)Excludes non-classical CAH
Lipid profileTG 180 mg/dL, HDL 38 mg/dLDyslipidemia

Pelvic Ultrasound (Transvaginal)

  • Both ovaries enlarged: Right ovary 12 cm³, Left ovary 13 cm³ (normal <10 cm³)
  • ≥12 follicles (2–9 mm diameter) per ovary arranged in a "string of pearls" periphery
  • Increased stromal echogenicity and volume
  • Uterine endometrium: 8 mm (proliferative)

DIAGNOSIS

Working Diagnosis: Polycystic Ovary Syndrome (PCOS)

Applying the Rotterdam Criteria (2003) — diagnosis requires 2 of 3:
CriterionPresent?
1. Oligo/anovulation (oligomenorrhea)✅ Yes
2. Clinical/biochemical hyperandrogenism✅ Yes (hirsutism + elevated testosterone)
3. Polycystic ovaries on ultrasound✅ Yes
All three criteria are fulfilled. Other causes excluded (TSH normal, prolactin normal, 17-OHP normal, no features of Cushing's).

DIFFERENTIAL DIAGNOSIS

  1. Non-classical Congenital Adrenal Hyperplasia (CAH) — excluded by normal 17-OH progesterone
  2. Hyperprolactinemia — excluded by normal prolactin
  3. Hypothyroidism — excluded by normal TSH
  4. Cushing's Syndrome — no striae, no proximal myopathy, no moon face
  5. Androgen-secreting ovarian/adrenal tumour — testosterone not markedly elevated (>200 ng/dL would raise suspicion); onset gradual

PATHOPHYSIOLOGY (Viva Points)

Genetic predisposition + Obesity
         ↓
Insulin Resistance → Compensatory Hyperinsulinemia
         ↓
↑ LH pulsatility from hypothalamus
         ↓
Theca cells → ↑ Androgen production (testosterone, androstenedione)
         ↓
Excess androgens → Inhibit follicular maturation → Follicular arrest
         ↓
Multiple small antral follicles (≤9 mm) → Polycystic appearance
         ↓
Anovulation → No corpus luteum → No progesterone
         ↓
Oligomenorrhea / Amenorrhea + Unopposed estrogen → Endometrial hyperplasia risk
"A dysregulation of enzymes involved in androgen biosynthesis results in excessive androgen production, which is considered a central feature of PCOS." — Robbins Basic Pathology

MANAGEMENT

1. Lifestyle Modification (First-Line)

  • Caloric restriction (500 kcal/day deficit) + regular aerobic exercise
  • Even 5% weight loss improves menstrual regularity, insulin sensitivity, and fertility outcomes
  • Target BMI <25 kg/m²

2. Medical Management

If pregnancy NOT desired:
DrugDosePurpose
Combined OCP (ethinylestradiol + levonorgestrel/drospirenone)1 tablet daily cyclicallyCycle regulation, anti-androgenic, endometrial protection
Metformin1500–2000 mg/day in divided dosesInsulin sensitiser; reduces androgens; may restore ovulation in 60–70%
Spironolactone50–100 mg/dayAnti-androgen for hirsutism (add to OCP)
If pregnancy desired:
DrugDosePurpose
Letrozole (preferred)5 mg on days 3–7 of cycleAromatase inhibitor; ovulation induction (superior to clomiphene in PCOS)
Clomiphene citrate50 mg on days 3–7SERM; ovulation induction (alternative)
MetforminAdjunctImproves ovulation induction response
"Letrozole is the preferred therapy; 75–80% of women conceive with such therapy." — Goldman-Cecil Medicine

3. Monitoring and Complications Screening

Per the diagnostic flowchart above:
  • Endometrial protection: Progesterone-induced bleed ≥4×/year if not on OCPs; ultrasound/biopsy if risk factors
  • Metabolic syndrome: Annual fasting glucose, HbA1c, lipid profile
  • Hypertension: Regular BP monitoring
  • Obstructive sleep apnoea: Screen with Epworth Sleepiness Scale (obesity + PCOS)
  • Mood disorders: Screen for depression/anxiety (common in PCOS)

4. Surgical (Last Resort)

  • Laparoscopic ovarian drilling (LOD): Multiple ovarian punctures by diathermy/laser; achieves unifollicular ovulation; reserved for medical treatment failure; risk of adhesions

DIAGNOSTIC FLOWCHART

PCOS Diagnostic and Ancillary Studies Flowchart
Dermatology 5e — Evaluation and ancillary studies after PCOS diagnosis

LONG-TERM COMPLICATIONS (Important for Viva)

SystemComplication
MetabolicType 2 DM (>50% by age 40), metabolic syndrome
CardiovascularDyslipidaemia, hypertension, increased CVD risk
OncologicalEndometrial hyperplasia/carcinoma (unopposed oestrogen)
ReproductiveInfertility, increased miscarriage rate, gestational diabetes
DermatologicalHirsutism, acne, androgenic alopecia
PsychologicalDepression, anxiety, eating disorders

VIVA VOCE QUESTIONS

Q1. What are the Rotterdam criteria? Any 2 of 3: (i) oligo/anovulation, (ii) clinical or biochemical hyperandrogenism, (iii) polycystic ovaries on USG — after excluding other causes.
Q2. What is the LH:FSH ratio in PCOS? Typically >2:1 (often 3:1), due to increased LH pulsatility. However, it is not required for diagnosis.
Q3. Why does PCOS cause anovulation? Excess LH stimulates theca cells → excess androgens → inhibit follicular maturation → arrest at antral stage → no dominant follicle → no LH surge → anovulation.
Q4. Why is unopposed oestrogen dangerous in PCOS? Chronic anovulation → no corpus luteum → no progesterone → unopposed oestrogen → endometrial proliferation → risk of endometrial hyperplasia and carcinoma.
Q5. What is acanthosis nigricans and its significance here? Velvety hyperpigmented skin in flexural areas (neck, axillae, groin); marker of insulin resistance. Seen in ~50% of PCOS patients.
Q6. Histology of polycystic ovary? Ovaries twice normal size, thickened fibrotic capsule, multiple subcortical follicular cysts (0.5–1.5 cm), hyperplastic luteinized theca interna, absent corpora lutea (due to anovulation). — Robbins Basic Pathology
Q7. Why is letrozole preferred over clomiphene for ovulation induction in PCOS? Letrozole (aromatase inhibitor) has shorter half-life (48 hrs vs 2 weeks for clomiphene), reduces peripheral oestrogen feedback, and has better live birth rates in PCOS with fewer multiple pregnancies.

Sources: Goldman-Cecil Medicine (International Ed.), Robbins & Kumar Basic Pathology, Berek & Novak's Gynecology, Textbook of Family Medicine 9e, Dermatology 5e
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