1. Fibroid Uterus (Uterine Leiomyoma) — 15 Marks

Definition

Etiopathogenesis

• Cellular origin: Each fibroid arises from a single myometrial smooth muscle cell that undergoes a somatic mutation, then proliferates as a monoclonal tumor.
• Hormonal dependence: Growth is driven by estrogen and progesterone. Fibroids grow during the reproductive years and pregnancy, and regress after menopause. Both estrogen and progesterone receptors are overexpressed in fibroid tissue compared to normal myometrium.
• Genetic factors: Cytogenetic abnormalities (e.g., translocations involving chromosome 12 and 14, deletions of chromosome 7) and mutations in the MED12 gene are found in a large proportion of fibroids. Family history and African ancestry are strong risk factors — African American women develop fibroids earlier, more numerously, and with more severe symptoms (Berek & Novak's Gynecology).
• Growth pattern: Growth rate is variable and not proportional to hormone levels alone; "rapid growth" in premenopausal women is very rarely due to leiomyosarcoma (incidence of sarcoma in fibroid specimens is well under 1%).
• Risk factors: Nulliparity, early menarche, obesity (peripheral aromatization increasing estrogen), family history, African ancestry. Smoking and multiparity appear protective.

Classification (FIGO)

Clinical Features

• Often asymptomatic (incidental finding).
• Heavy/prolonged menstrual bleeding (AUB-L) — most common with submucosal and intramural fibroids that distort the cavity; due to increased endometrial surface area, impaired myometrial contractility, and altered vascular/prostaglandin factors.
• Pelvic pain/pressure — from bulk, degeneration (acute pain with red degeneration in pregnancy), or torsion of a pedunculated fibroid.
• Abdominal/pelvic mass — progressively enlarging, firm, irregular, mobile, non-tender uterus on examination.
• Pressure symptoms: urinary frequency/retention (bladder compression), constipation (rectal compression), hydronephrosis (rare, ureteric compression).
• Reproductive effects: infertility (especially submucosal/cavity-distorting fibroids), recurrent miscarriage, malpresentation, preterm labor, obstructed labor.
• Secondary anemia from chronic blood loss.

Investigations

1. Pelvic examination — enlarged, irregular, firm, non-tender uterus; a strong clinical predictor of size/weight.
2. Transvaginal/abdominal ultrasonography — first-line imaging; assesses number, size, and location.
3. Saline-infusion sonohysterography (SIS) or hysteroscopy — best for defining submucosal fibroids and cavity distortion, especially pre-myomectomy or in infertility work-up.
4. MRI — most accurate for mapping fibroid number/location before myomectomy/UAE, and helps distinguish fibroid from adenomyosis or sarcoma when features are atypical.
5. Hemogram — to assess anemia from chronic blood loss.
6. Endometrial sampling — if AUB in a woman >45 or with risk factors for hyperplasia/malignancy, to exclude endometrial pathology.
7. Renal ultrasound if large fibroids raise suspicion of ureteric compression.

Management

Principles

A. Expectant management

B. Medical management

• NSAIDs and tranexamic acid — symptomatic relief of heavy bleeding.
• Combined oral contraceptives / cyclical progestins — control bleeding, do not shrink fibroids much.
• Levonorgestrel intrauterine system (LNG-IUS) — effective for bleeding control if the cavity is not significantly distorted.
• GnRH agonists (leuprolide) — induce hypoestrogenic state, shrink fibroid volume by 35-65%, used pre-operatively to correct anemia and reduce intraoperative blood loss; limited by menopausal side effects and bone loss with prolonged use.
• GnRH antagonists (elagolix, relugolix combinations) and selective progesterone receptor modulators (ulipristal acetate) — newer options for symptom control and pre-surgical shrinkage.

C. Surgical management

• Myomectomy (see Topic 7 below) — fertility-sparing option.
• Hysterectomy — definitive treatment; indicated when fertility is not desired, symptoms are severe/refractory, or malignancy cannot be excluded. Can be abdominal, vaginal, or laparoscopic/robotic depending on uterine size and surgeon expertise.
• Uterine artery embolization (UAE) — interventional radiologic option for women wishing to avoid surgery or preserve the uterus; not ideal if future fertility is a priority due to risk of ovarian insufficiency/uterine damage.
• MRI-guided focused ultrasound surgery (MRgFUS) — non-invasive thermal ablation, for selected cases.
• Endometrial ablation — for bleeding control in small submucosal fibroids without desire for fertility.

D. Special situations

• In pregnancy: mostly conservative; red degeneration managed with analgesia and rest; myomectomy avoided except when necessary (torsion, obstructing labor).
• Rapidly growing fibroid in a postmenopausal woman, or bleeding with pain in an older patient, should raise suspicion of leiomyosarcoma and warrants prompt surgical evaluation.

2. Pelvic Inflammatory Disease (PID) — 5 Marks

• Elevated WBC/ESR/CRP
• Endocervical swab/NAAT for gonorrhea and chlamydia
• Transvaginal ultrasound or CT to identify tubo-ovarian abscess or exclude other causes
• Laparoscopy confirms diagnosis in only ~70% of clinically suspected cases, so a low threshold for empirical treatment is recommended.

• Empirical broad-spectrum antibiotics covering gonorrhea, chlamydia, and anaerobes, started promptly even before culture results.
• Outpatient: Ceftriaxone 250 mg-1 g IM single dose plus doxycycline 100 mg orally twice daily for 14 days ± metronidazole for anaerobic/BV coverage.
• Inpatient (indicated for pregnancy, tubo-ovarian abscess, failure/intolerance of oral therapy, inability to exclude surgical emergency, severe illness): IV cefoxitin/cefotetan plus doxycycline, or clindamycin plus gentamicin.
• Remove IUD if no clinical improvement.
• Treat sexual partners; advise abstinence until treatment complete.
• Long-term sequelae if untreated/recurrent: chronic pelvic pain, infertility, ectopic pregnancy risk.

3. Tubo-Ovarian Abscess (TOA) — 5 Marks

• Hospitalization and IV antibiotics (broad-spectrum, anaerobic coverage) — regimens as for severe PID (cefoxitin/cefotetan + doxycycline, or clindamycin + gentamicin, or ceftriaxone + metronidazole).
• About 75% respond to antibiotics alone.
• Failure of medical therapy after 48-72 hours (persistent fever, worsening mass, or clinical deterioration) is an indication for drainage.
• Image-guided percutaneous drainage (ultrasound or CT-guided, transvaginal or transabdominal) is preferred first-line intervention when drainage is needed — successful in up to 90% of cases refractory to antibiotics.
• Surgical management (laparoscopy or laparotomy, with drainage/salpingo-oophorectomy or hysterectomy in severe/ruptured cases) is reserved for abscess rupture (surgical emergency, presents with peritonitis/septic shock), failure of drainage, or when malignancy cannot be excluded.
• Ruptured TOA is a life-threatening emergency requiring immediate laparotomy.

4. Hormone Replacement Therapy (HRT) — 5 Marks

• Moderate to severe vasomotor symptoms (hot flushes, night sweats) of menopause
• Genitourinary syndrome of menopause (vaginal atrophy, dyspareunia) — local low-dose estrogen preferred
• Prevention of osteoporosis in high-risk women, especially with early menopause/premature ovarian insufficiency, when other agents are unsuitable
• Premature ovarian insufficiency or surgical menopause (until natural age of menopause) to prevent long-term estrogen-deficiency consequences

• Absolute: undiagnosed vaginal bleeding, known/suspected breast cancer, estrogen-dependent cancer, active venous thromboembolism (VTE), active/recent arterial thromboembolic disease (MI, stroke), active liver disease, pregnancy
• Relative: uncontrolled hypertension, migraine with aura, gallbladder disease, history of endometriosis (theoretical reactivation risk), hypertriglyceridemia

• Effective relief of vasomotor and genitourinary symptoms
• Prevention of postmenopausal bone loss and fracture
• Improved sleep and quality of life
• Possible reduction in colorectal cancer risk
• If started early (within 10 years of menopause, "timing hypothesis"), may reduce cardiovascular risk; benefit-risk ratio is most favorable in this window

• Increased risk of breast cancer with combined estrogen-progestin therapy with prolonged use
• Increased VTE risk (higher with oral vs transdermal estrogen)
• Increased stroke risk, particularly in older women or those starting HRT many years after menopause
• Endometrial hyperplasia/cancer risk with unopposed estrogen in a woman with an intact uterus (mitigated by adding a progestogen)
• Gallbladder disease
• Breast tenderness, bloating, mood changes, breakthrough bleeding

5. Medical Management of Abnormal Uterine Bleeding (Hormonal Therapy) — 5 Marks

• High-dose IV conjugated equine estrogen, or high-dose combined oral contraceptive pills (tapering regimen) or high-dose oral progestins to rapidly stabilize the endometrium and stop bleeding, alongside tranexamic acid and correction of anemia/hemodynamic status.

1. Levonorgestrel-releasing intrauterine system (LNG-IUS) — first-line for chronic AUB without significant cavity distortion; reduces menstrual blood loss by up to 90%, also provides contraception.
2. Combined oral contraceptive pills — regulate cycles and reduce blood loss in ovulatory and anovulatory AUB.
3. Cyclical oral progestins (e.g., norethisterone, medroxyprogesterone acetate) given in the luteal phase or for 21-day regimens — useful particularly in anovulatory AUB to oppose unopposed estrogen and induce regular withdrawal bleeds.
4. Tranexamic acid (antifibrinolytic, non-hormonal adjunct) and NSAIDs — used alongside or as alternatives when hormonal therapy is contraindicated.
5. GnRH agonists — short-term use for severe bleeding/anemia correction preoperatively, or when structural lesions (fibroids) coexist, given hypoestrogenic side effects limiting long-term use.
6. Danazol — effective but limited by androgenic side effects, now rarely used.

6. MRKH Syndrome (Mayer-Rokitansky-Küster-Hauser Syndrome) — 5 Marks

• Primary amenorrhea with otherwise normal pubertal development (normal breast and pubic hair)
• Normal external genitalia; short or absent vaginal canal on examination
• Cyclical pelvic pain may occur if a functioning uterine remnant is present (rare)
• Normal 46,XX karyotype and normal ovarian/endocrine function (differentiates from androgen insensitivity syndrome, where karyotype is 46,XY)

• Psychological counseling and support (diagnosis often devastating for adolescent/young woman)
• Non-surgical: Progressive vaginal dilation (Frank's or Ingram's method) is first-line to create a functional vagina, effective in most patients.
• Surgical: Vaginoplasty (e.g., McIndoe procedure using a skin graft, or Vecchietti procedure using traction) when dilation fails or is not accepted.
• Fertility: uterus is absent, so patients cannot carry a pregnancy naturally; biological children are possible via IVF with own oocytes and a gestational surrogate, or increasingly via uterus transplantation (experimental/emerging option).
• Regular screening for associated renal and skeletal anomalies.

7. Turner Syndrome — 5 Marks

• ~57% have complete monosomy: 45,X karyotype
• ~14% have structural X abnormalities (isochromosome Xq, ring chromosome, deletions)
• ~29% are mosaics (e.g., 45,X/46,XX; 45,X/46,XY; 45,X/47,XXX)
• Mosaics with Y chromosome material (~5-10%) carry increased risk of gonadoblastoma, warranting consideration of prophylactic gonadectomy.

• Short stature (below 3rd percentile), growth retardation
• Neck webbing (from resolved fetal lymphedema/cystic hygroma), low posterior hairline
• Cubitus valgus, shield-shaped chest with widely spaced nipples, high-arched palate
• Lymphedema of hands and feet (especially in infancy)
• Congenital anomalies: horseshoe kidney, bicuspid aortic valve, coarctation of aorta, mitral valve prolapse (~50%)
• Gonadal dysgenesis: ovaries reduced to fibrous "streak gonads," leading to primary amenorrhea and lack of secondary sexual characteristics (infantile genitalia, minimal breast development)
• Increased risk of autoimmune hypothyroidism (up to 50%, especially with isochromosome Xp), autoimmune disease (SLE), and extragonadal germ cell tumors (mediastinal teratoma)
• Normal intellect generally, though subtle visuospatial deficits may occur

• Growth hormone therapy in childhood to optimize final height
• Estrogen replacement therapy (low-dose, initiated around expected puberty age) to induce secondary sexual characteristics, followed by combined estrogen-progestin HRT to maintain bone health and cardiovascular health, and for uterine development if fertility via donor oocyte/IVF is planned
• Regular cardiac surveillance (echocardiogram/MRI) for aortic root dilatation and valvular disease
• Renal ultrasound and monitoring for associated anomalies
• Annual thyroid function testing for autoimmune hypothyroidism
• Gonadectomy if Y chromosome material is present (gonadoblastoma risk)
• Psychosocial support and genetic counseling; fertility options include donor oocyte IVF with a surrogate or the patient's own uterus if structurally adequate

8. Myomectomy: Indications and Steps — 5 Marks

• Symptomatic fibroids (heavy menstrual bleeding, pelvic pain/pressure) in a woman who wishes to preserve fertility or retain the uterus
• Submucosal/cavity-distorting fibroids causing infertility or recurrent pregnancy loss
• Failure of medical management of fibroid-related symptoms
• Rapidly enlarging fibroid causing diagnostic uncertainty (to exclude sarcoma) in a woman wanting uterine preservation
• Pressure symptoms (bladder, bowel, ureteric compression) from a large fibroid

1. Hysteroscopic myomectomy — for submucosal (FIGO type 0, 1, 2) fibroids resecting via a hysteroscopic loop/resectoscope.
2. Laparoscopic myomectomy — for subserosal/intramural fibroids; requires advanced laparoscopic suturing skill.
3. Abdominal (open) myomectomy — for large, multiple, or deeply intramural fibroids not amenable to minimally invasive approach.
4. Robotic-assisted laparoscopic myomectomy — an alternative to conventional laparoscopy, though evidence shows no clear outcome benefit over standard laparoscopy in expert hands.

1. Pre-operative optimization — correction of anemia, consideration of GnRH agonist pretreatment to shrink fibroid and reduce vascularity/blood loss, imaging (ultrasound/MRI) to map fibroid location.
2. Adequate exposure of the uterus; use of a tourniquet or vasopressin/vasoconstrictor injection into the myometrium to minimize bleeding.
3. Incision (usually transverse) is made over the fibroid capsule down to the pseudocapsule.
4. The fibroid is grasped and enucleated from the surrounding myometrium by blunt and sharp dissection along the pseudocapsule plane, with traction and counter-traction.
5. Hemostasis is achieved as the bed is dissected (cautery/sutures as needed).
6. The myometrial defect is closed in multiple layers with absorbable sutures to obliterate dead space and restore uterine wall integrity, minimizing risk of future uterine rupture in pregnancy.
7. The excised fibroid is removed intact (open) or via morcellation into fragments for extraction through laparoscopic ports/small incision (laparoscopic route) — note ongoing debate about morcellation and risk of disseminating an occult leiomyosarcoma, though the absolute risk is extremely low (roughly 4/10,000 to 2/1,000).
8. Adhesion prevention measures (e.g., adhesion barriers) may be used, especially with posterior wall incisions.
9. Post-operative counseling regarding future pregnancy: recommendation to wait several months before conception and consideration of cesarean delivery if the endometrial cavity was entered or deep myometrial incisions were made.