# Clinical Cases: Menstrual Disorders

## Case 1: Polycystic Ovary Syndrome with Oligomenorrhea

### Patient Demographics
- **Age:** 24 years
- **Sex:** Female
- **Occupation:** Graduate student

### Chief Complaint
"I haven't had my period in 4 months and I'm gaining weight."

### History of Present Illness
The patient presents with a 4-month history of amenorrhea. Her periods have been irregular since menarche, occurring every 35-60 days. Over the past year, her cycles have become even more irregular, and she has now gone 4 months without a period. She has gained 25 pounds over the past 2 years despite no major dietary changes. She also notes increasing facial hair requiring daily shaving and persistent acne that has not responded to topical treatments.

### Gynecologic History
- Menarche: Age 14
- Cycles: Always irregular (35-60+ days)
- Last menstrual period: 4 months ago
- Sexually active: No current partner
- Prior pregnancies: None

### Past Medical History
- No chronic medical conditions
- No prior surgeries

### Family History
- Mother: Type 2 diabetes, diagnosed age 45
- Sister: Irregular periods, told she has "cysts on ovaries"

### Physical Examination
- **Height:** 5'5" (165 cm)
- **Weight:** 185 lbs (84 kg)
- **BMI:** 30.8 kg/m2 (Obese Class I)
- **Vital Signs:** BP 128/82 mmHg, HR 76 bpm
- **Skin:** Moderate inflammatory acne on face and back; hirsutism on chin, upper lip, and sideburns (Ferriman-Gallwey score: 12)
- **Neck:** Acanthosis nigricans present
- **Abdomen:** Soft, obese, non-tender
- **Pelvic:** Normal external genitalia, cervix normal, uterus normal size, no adnexal masses

### Diagnostic Workup

**First Step - Pregnancy Test:** Negative

**Laboratory Evaluation:**
| Test | Result | Reference |
|------|--------|-----------|
| FSH | 6.2 mIU/mL | Normal |
| LH | 18 mIU/mL | Elevated (LH:FSH ratio 2.9) |
| Total Testosterone | 82 ng/dL | Elevated (normal <50) |
| Free Testosterone | 12 pg/mL | Elevated |
| DHEA-S | 320 mcg/dL | Normal |
| TSH | 2.1 mIU/L | Normal |
| Prolactin | 18 ng/mL | Normal |
| 17-OH Progesterone | 120 ng/dL | Normal (rules out CAH) |
| Fasting Glucose | 108 mg/dL | Impaired fasting glucose |
| HbA1c | 5.9% | Prediabetes |
| Lipid Panel | LDL 142, HDL 38, TG 185 | Dyslipidemia |

**Pelvic Ultrasound:**
- Right ovary: 12 mL volume, 15 antral follicles (2-9 mm)
- Left ovary: 14 mL volume, 18 antral follicles (2-9 mm)
- Endometrial thickness: 8 mm

### Diagnosis: Polycystic Ovary Syndrome

**Rotterdam Criteria (2 of 3 required):**
1. Oligo/anovulation: YES (oligomenorrhea/amenorrhea)
2. Clinical or biochemical hyperandrogenism: YES (hirsutism, elevated testosterone)
3. Polycystic ovarian morphology: YES (>12 follicles per ovary)

**Associated Findings:**
- Insulin resistance (acanthosis nigricans, prediabetes)
- Metabolic syndrome (central obesity, dyslipidemia, impaired glucose)
- LH:FSH ratio >2

**Exclusion of other causes:**
- TSH normal (excludes thyroid disease)
- Prolactin normal (excludes hyperprolactinemia)
- 17-OH progesterone normal (excludes late-onset CAH)
- DHEA-S normal (makes androgen-secreting tumor unlikely)

### Management Plan

**1. Menstrual Regulation and Endometrial Protection:**
- Combined oral contraceptive pill (OCP with anti-androgenic progestin - drospirenone)
- Alternatively: Cyclic progestin (MPA 10 mg x 10-14 days monthly)
- Goal: Prevent endometrial hyperplasia from unopposed estrogen

**2. Hirsutism and Acne Treatment:**
- OCP (addresses both menstrual and androgen symptoms)
- Add spironolactone 100 mg daily after 3 months if hirsutism persists
- **Must use reliable contraception with spironolactone** (teratogenic)

**3. Metabolic Management:**
- Lifestyle modification: Structured diet and exercise program
- Goal: 5-10% weight loss (can restore ovulation and improve metabolic parameters)
- Metformin 500 mg twice daily (for prediabetes and insulin resistance)
- Repeat glucose testing in 3 months

**4. Long-term Screening:**
- Annual fasting glucose or HbA1c
- Lipid panel annually
- Blood pressure monitoring
- Screening for obstructive sleep apnea if symptomatic

### Patient Counseling
- PCOS is a lifelong condition requiring ongoing management
- Weight loss of even 5-10% can restore ovulatory cycles
- Increased risk of endometrial cancer if untreated (unopposed estrogen)
- If she desires pregnancy in future: Letrozole is first-line for ovulation induction
- Type 2 diabetes risk: 30-40% by age 40 in women with PCOS

### Follow-up (3 months)
- Weight: 178 lbs (lost 7 lbs)
- Menses: Regular withdrawal bleeds on OCP
- Acne: Significantly improved
- Fasting glucose: 98 mg/dL (improved)
- Will add spironolactone for persistent hirsutism

### Clinical Image
![Polycystic Ovaries](case_01_image.jpg)

**Image Description:** Transvaginal ultrasound image demonstrating a polycystic ovary with multiple small follicles (>12) arranged in a peripheral "string of pearls" pattern around an echogenic stroma. The ovarian volume exceeds 10 mL.

**Attribution:** Image from Radiopaedia. Case courtesy of Dr. Matt Skalski. Licensed under CC BY-NC-SA 3.0. Source: https://radiopaedia.org/cases/polycystic-ovary-syndrome

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## Case 2: Heavy Menstrual Bleeding with Submucosal Fibroid

### Patient Demographics
- **Age:** 42 years
- **Sex:** Female
- **Occupation:** Restaurant manager

### Chief Complaint
"My periods are so heavy I can't leave the house for the first two days."

### History of Present Illness
The patient reports progressively worsening menstrual bleeding over the past 2 years. Currently, she soaks through a super tampon and pad together every 1-2 hours on her heaviest days. She passes large clots (larger than a quarter). Her periods last 8-9 days. She has to take sick days from work during her period. She recently noticed fatigue, shortness of breath with exertion, and dizziness when standing.

### Gynecologic History
- Menarche: Age 12
- Prior cycles: Regular, 28 days, moderate flow (5 days)
- Current pattern: Regular cycles but heavy flow x 8-9 days
- LMP: 1 week ago (just finished)
- Contraception: Tubal ligation after third child
- Prior pregnancies: G3P3003 (3 term vaginal deliveries)

### Past Medical History
- No chronic conditions
- No prior surgeries except tubal ligation

### PALM-COEIN Assessment

**Bleeding Pattern (FIGO Terminology):**
- Heavy menstrual bleeding (>80 mL or subjectively heavy)
- Prolonged bleeding (>8 days)
- Regular cycles

### Physical Examination
- **Vital Signs:** BP 110/68, HR 92 (mild tachycardia), orthostatic hypotension present
- **General:** Pale conjunctivae, appears fatigued
- **Abdomen:** Soft, non-tender, mild suprapubic fullness
- **Pelvic:** Cervix normal, uterus 12-week size, irregular contour, non-tender, no adnexal masses

### Diagnostic Workup

**Laboratory Studies:**
| Test | Result | Interpretation |
|------|--------|----------------|
| CBC | Hgb 8.2 g/dL, MCV 72 fL | Microcytic anemia |
| Iron studies | Ferritin 8 ng/mL, TIBC elevated | Iron deficiency |
| TSH | 1.8 mIU/L | Normal |
| Pregnancy test | Negative | |

**Transvaginal Ultrasound:**
- Uterus: 10 cm length, 8 cm width
- Submucosal fibroid: 3.5 cm, protruding into endometrial cavity (Type 1)
- Additional intramural fibroid: 2 cm (Type 4)
- Endometrium: 6 mm, regular contour (but distorted by submucosal fibroid)
- Ovaries: Normal

**Saline Infusion Sonohysterography:**
- Confirms Type 1 submucosal fibroid (approximately 40% intracavitary)
- Stalk visible arising from posterior wall
- Amenable to hysteroscopic resection

### Diagnosis
**Abnormal Uterine Bleeding - Leiomyoma (AUB-L)**
- Type 1 submucosal fibroid causing heavy menstrual bleeding
- Secondary iron deficiency anemia

### Endometrial Biopsy
- Performed given age >40 with AUB
- Result: Proliferative endometrium, no hyperplasia or malignancy

### Management Discussion

**Medical Options:**
- Tranexamic acid: Reduces bleeding by 50%
- Hormonal IUD: Not ideal due to cavity distortion by fibroid
- GnRH agonist: Temporary shrinkage, bone loss limits long-term use

**Surgical Options (Recommended):**
- **Hysteroscopic myomectomy:** Best option for Type 0-1 submucosal fibroids
  - Minimally invasive, uterine preservation
  - High success rate for bleeding improvement
- Endometrial ablation: Not ideal with fibroid present
- Hysterectomy: Definitive but more invasive

**Iron Replacement:**
- Ferrous sulfate 325 mg twice daily with vitamin C

### Surgical Treatment: Hysteroscopic Myomectomy

**Procedure:**
- Performed under general anesthesia
- Resectoscope used to shave fibroid in fragments
- Complete resection achieved
- EBL: Minimal
- Pathology: Benign leiomyoma

### Postoperative Follow-up (3 months)
- Periods: Significantly lighter, 5-day duration
- No longer soaking through protection
- Returned to normal activities during menses
- Hemoglobin: 11.8 g/dL (improved)
- Ferritin: 35 ng/mL (repleting)
- Will continue iron supplementation until ferritin >50

### Teaching Points
- Submucosal fibroids are the most common cause of heavy menstrual bleeding among structural causes
- FIGO classification (Type 0-7) guides surgical approach
- Types 0-2 (submucosal) amenable to hysteroscopic resection
- Endometrial biopsy indicated for women >45 or with risk factors for hyperplasia
- Iron deficiency anemia is common with chronic heavy bleeding

### Clinical Image
![Submucosal Fibroid](case_02_image.jpg)

**Image Description:** Saline infusion sonohysterography demonstrating a submucosal leiomyoma (fibroid) protruding into the endometrial cavity. The fibroid appears as a well-circumscribed, hypoechoic mass partially surrounded by saline, allowing clear delineation of its intracavitary component.

**Attribution:** Image from Radiopaedia. Educational case. Licensed under CC BY-NC-SA 3.0.

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## Case 3: Primary Amenorrhea with Absent Uterus

### Patient Demographics
- **Age:** 17 years
- **Sex:** Female
- **Occupation:** High school student

### Chief Complaint
"I still haven't gotten my period and all my friends have."

### History of Present Illness
The patient is a 17-year-old who has never menstruated. She is concerned because her friends all started their periods between ages 11-14. She has normal breast development and pubic hair. She has never been sexually active. She denies pelvic pain (no cyclical pain). She is otherwise healthy with no chronic medical conditions.

### Definition of Primary Amenorrhea
- Absence of menses by age 15 in the presence of secondary sexual characteristics: **MEETS CRITERIA**
- (OR absence by age 13 without secondary sexual characteristics)

### Developmental History
- Breast development began at age 11 (Tanner stage 4 currently)
- Pubic hair development began at age 12 (Tanner stage 4)
- Growth: Normal height (5'7"), appropriate for family
- No cyclical pain (rules out outflow obstruction with accumulated blood)

### Family History
- Mother: Menarche at age 13
- Sister: Menarche at age 12
- No family history of infertility or amenorrhea

### Physical Examination
- **Height:** 5'7" (170 cm)
- **Weight:** 135 lbs (61 kg)
- **BMI:** 21.2 kg/m2
- **General:** Healthy-appearing adolescent female
- **Breast Development:** Tanner stage 4 (normal)
- **Pubic Hair:** Tanner stage 4 (normal)
- **External Genitalia:** Normal female external genitalia
- **Vaginal Examination:** Blind-ending vaginal pouch, approximately 2 cm depth; no cervix visualized

### Initial Assessment
Normal secondary sexual characteristics with absent vagina/cervix:
- Differential includes:
  - Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome)
  - Complete androgen insensitivity syndrome (46,XY)

### Diagnostic Workup

**Laboratory Studies:**
| Test | Result | Interpretation |
|------|--------|----------------|
| FSH | 6.8 mIU/mL | Normal (not elevated) |
| LH | 8.2 mIU/mL | Normal |
| Estradiol | 95 pg/mL | Normal female range |
| Testosterone | 35 ng/dL | Normal female range |
| Prolactin | 12 ng/mL | Normal |
| TSH | 2.0 mIU/L | Normal |

**Karyotype:** 46,XX (normal female)

**Pelvic Ultrasound:**
- Uterus: Not visualized
- Ovaries: Bilateral normal-appearing ovaries identified
- No hematocolpos or hematometra

**Pelvic MRI (Confirmatory):**
- Uterus: Absent
- Cervix: Absent
- Upper 2/3 vagina: Absent (consistent with blind-ending pouch on exam)
- Ovaries: Normal bilaterally
- Kidneys: Normal bilaterally (no renal anomalies)

### Diagnosis
**Mullerian Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome)**
- 46,XX karyotype
- Normal ovarian function (normal estrogen, normal secondary sexual characteristics)
- Congenital absence of uterus, cervix, and upper vagina
- Normal external genitalia

### Why Not Androgen Insensitivity?
- 46,XX karyotype (AIS would have 46,XY)
- Normal testosterone for female (AIS would have male testosterone levels)
- Presence of pubic hair (AIS patients have sparse/absent pubic hair)

### Multidisciplinary Care

**Counseling:**
- Sensitive discussion with patient (and parents if patient desires)
- She has normal female chromosomes and normal ovaries
- She will not have periods and cannot carry a pregnancy
- Biological children are possible via gestational surrogacy using her oocytes
- Creation of functional vagina possible for sexual activity

**Treatment Options:**

**First-line: Vaginal Dilation Therapy**
- Progressive self-dilation using dilators
- 85-90% success rate in creating functional vagina
- Non-surgical, can be done at home
- Requires motivation and time (typically 6-12 months)

**Second-line: Surgical Vaginoplasty**
- McIndoe procedure or other surgical techniques
- Reserved for failed dilation therapy

**Psychological Support:**
- Referral to counselor specializing in DSD/reproductive differences
- Support groups for women with MRKH syndrome
- Address grief around infertility, identity, and relationships

### Associated Evaluations
- Renal ultrasound: Normal (25-30% have renal anomalies)
- Spine evaluation: No skeletal anomalies
- Audiology: Normal hearing

### Long-term Follow-up
- Annual gynecologic exam
- Bone density monitoring (normal given functioning ovaries producing estrogen)
- Fertility counseling when appropriate
- Continued psychological support

### Patient Outcome
- Successfully created functional vagina with dilation therapy over 9 months
- Engaged with MRKH support community
- Coping well with diagnosis

### Clinical Image
![MRI Mullerian Agenesis](case_03_image.jpg)

**Image Description:** Sagittal MRI of the pelvis demonstrating absence of the uterus in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. The bladder is visualized anteriorly and the rectum posteriorly, with no uterine structure between them. Normal ovaries are visible on axial images.

**Attribution:** Image from Radiopaedia. Case courtesy of Dr. Frank Gaillard. Licensed under CC BY-NC-SA 3.0. Source: https://radiopaedia.org/cases/mayer-rokitansky-kuster-hauser-syndrome