Reproductive disorders encompass a wide range of conditions affecting the male and female reproductive systems, including structural abnormalities, hormonal imbalances, infectious diseases, and fertility issues. This article provides comprehensive coverage of major reproductive conditions.
Endometriosis
| Parameter | Detail |
|---|---|
| Definition | Presence of endometrial-like tissue (glands and stroma) outside the uterine cavity, causing a chronic inflammatory reaction |
| Prevalence | 5-10% of reproductive-age women; 35-50% of women with chronic pelvic pain and/or infertility |
| Common sites | Ovaries (endometriomas), uterosacral ligaments, pouch of Douglas, fallopian tubes, bladder, bowel, peritoneum |
| Pathophysiology | Retrograde menstruation (most accepted theory), coelomic metaplasia, hematogenous/lymphatic spread, genetic factors, altered immunity, estrogen dependence |
Endometriosis Classification (ASRM)
| Stage | Description | Findings |
|---|---|---|
| I (Minimal) | Few superficial implants, no adhesions | <5 cm total implant area, no significant adhesions |
| II (Mild) | More numerous implants, deeper, no significant adhesions | 5-15 cm implant area, no significant adhesions |
| III (Moderate) | Many deep implants, endometriomas, mild adhesions | Ovarian endometriomas <2 cm, peritubal/periovarian adhesions |
| IV (Severe) | Large endometriomas, extensive dense adhesions | Ovarian endometriomas >2 cm, tubal obstruction, cul-de-sac obliteration |
Endometriosis Symptoms
| Symptom | Frequency | Description |
|---|---|---|
| Dysmenorrhea (painful periods) | 60-80% | Primary presenting symptom; pain may start before menses and persist throughout |
| Chronic pelvic pain | 40-60% | Non-cyclic pelvic pain lasting >6 months |
| Dyspareunia (painful intercourse) | 30-50% | Deep pain, especially with deep penetration |
| Infertility | 30-50% | Mechanical (adhesions, tubal distortion), inflammatory (altered follicular fluid, poor oocyte quality) |
| Dyschezia (painful defecation) | 20-30% | Pain with bowel movements, especially during menses |
| Dysuria | 10-20% | Cyclic urinary symptoms |
| Menorrhagia | 15-30% | Heavy menstrual bleeding |
Endometriosis Treatment
| Goal | Options | Notes |
|---|---|---|
| Pain relief (no fertility desired) | NSAIDs, OCP (continuous or cyclic), progestins (norethindrone acetate, DMPA), GnRH agonists/antagonists (leuprolide, elagolix), aromatase inhibitors | Hormonal suppression is mainstay; elagolix (oral GnRH antagonist) approved for endometriosis pain |
| Pain relief (surgical) | Laparoscopic excision/ablation of endometriosis implants, adhesiolysis, ovarian cystectomy (for endometriomas) | Gold standard for diagnosis and treatment; recurrence rate 20-50% within 5 years |
| Fertility treatment | Expectant management (if mild), superovulation + IUI (if patent tubes, mild-moderate), IVF (most effective for moderate-severe) | Surgical treatment may improve spontaneous pregnancy rates; IVF preferred for advanced disease |
| Definitive surgery | Total abdominal hysterectomy + bilateral salpingo-oophorectomy (TAH + BSO) + excision of all visible disease | For severe, refractory disease when fertility not desired; risk of recurrence if any disease left or with estrogen therapy |
Uterine Fibroids (Leiomyomas)
| Parameter | Detail |
|---|---|
| Definition | Benign smooth muscle tumors of the uterus, monoclonal in origin, estrogen and progesterone dependent |
| Prevalence | 70-80% of women by age 50; more common and more severe in African American women |
| Classification | Submucosal (intracavitary), intramural (within myometrium), subserosal (external surface), pedunculated (stalked) |
Fibroid Symptoms
| Symptom | Frequency | Cause |
|---|---|---|
| Heavy menstrual bleeding (menorrhagia) | 40-60% | Most common symptom; submucosal fibroids most likely to cause bleeding |
| Pelvic pain/pressure | 30-50% | Bulk-related symptoms, degeneration, torsion of pedunculated fibroid |
| Urinary frequency/urgency | 20-30% | Compression of bladder (anterior fibroids) |
| Constipation/tenesmus | 10-20% | Compression of rectum (posterior fibroids) |
| Infertility | 5-10% | Cavity distortion (submucosal), altered endometrial receptivity, tubal obstruction |
| Pregnancy complications | Increased risk | Spontaneous abortion, preterm labor, malpresentation, PPH, placental abruption |
Fibroid Treatment
| Modality | Indications | Details |
|---|---|---|
| Observation | Asymptomatic | Annual pelvic exam/ultrasound monitoring |
| Medical | Symptomatic, desire for future fertility, pre-surgical | GnRH agonists (leuprolide: 3 months pre-surgery), tranexamic acid (for bleeding), NSAIDs, OCP, levonorgestrel IUD (reduces bleeding), elagolix + add-back therapy |
| Myomectomy | Symptomatic, desire to preserve uterus/fertility | Hysteroscopic (submucosal), laparoscopic (intramural/subserosal), or open (abdominal); recurrence 10-30% |
| MRI-guided focused ultrasound (MRgFUS) | Symptomatic, desire to preserve uterus | Thermal ablation; limited to certain fibroid types/sizes |
| Uterine artery embolization (UAE) | Symptomatic, desire to preserve uterus | Particle embolization of uterine arteries; 85% symptom improvement; contraindicated if desire for fertility (controversial) |
| Endometrial ablation | Heavy bleeding, no desire for fertility | Destroys endometrium; not effective for large/bulky fibroids |
| Hysterectomy | Definitive treatment, no desire for fertility | Total or subtotal (supracervical); laparoscopic, vaginal, or open |
Male Infertility
| Parameter | Detail |
|---|---|
| Definition | Inability of a male to impregnate a female after 12 months of regular, unprotected intercourse |
| Prevalence | Affects 7% of all men; male factor contributes to 50% of all infertility cases |
| Categories | Pretesticular (hypothalamic-pituitary), testicular (spermatogenesis defects), post-testicular (obstruction, ejaculatory dysfunction) |
Semen Analysis Parameters (WHO 6th Edition - 2021)
| Parameter | Lower Reference Limit |
|---|---|
| Semen volume | >=1.4 mL |
| Sperm concentration | >=16 million/mL |
| Total sperm number | >=39 million per ejaculate |
| Total motility (progressive + non-progressive) | >=42% |
| Progressive motility | >=30% |
| Normal morphology (strict criteria) | >=4% |
| Vitality (live sperm) | >=54% |
| Leukocytes | <1.0 million/mL |
Causes of Male Infertility
| Category | Conditions | Evaluation |
|---|---|---|
| Pretesticular | Hypogonadotropic hypogonadism (Kallmann syndrome, pituitary tumors, hemochromatosis, anabolic steroid use), hyperprolactinemia, thyroid disorders, Cushing syndrome | FSH, LH, testosterone, prolactin, TSH, ferritin |
| Testicular | Varicocele (most common identifiable cause, 35-40%), cryptorchidism, orchitis (mumps, post-pubertal), Klinefelter syndrome (XXY), Y-chromosome microdeletions, chemotherapy/radiation, testicular torsion, trauma | Semen analysis, FSH (elevated in primary testicular failure), inhibin B, karyotype, Y-chromosome deletion analysis |
| Post-testicular | Obstruction (CBAVD in CF, vasectomy, post-infectious epididymal obstruction), ejaculatory dysfunction (retrograde ejaculation, anejaculation), sperm autoantibodies | Semen fructose (absence suggests ejaculatory duct obstruction/ seminal vesicle agenesis), post-ejaculatory urine (retrograde ejaculation), antisperm antibody testing |
Male Infertility Treatment
| Cause | Treatment | Success |
|---|---|---|
| Hypogonadotropic hypogonadism | hCG + FSH (or hMG), GnRH pump | 70-80% achieve spermatogenesis |
| Varicocele | Varicocelectomy (microsurgical, laparoscopic, or embolization) | 60-70% improve semen parameters, 30-40% spontaneous pregnancy |
| Obstructive azoospermia | Surgical reconstruction (vasovasostomy, vasoepididymostomy) or sperm retrieval + ICSI | 80-95% patency (vasovasostomy); pregnancy with ICSI |
| Idiopathic oligospermia | Empiric: clomiphene, tamoxifen, aromatase inhibitors (anastrozole) | Limited evidence |
| Severe oligospermia/azoospermia | Testicular sperm extraction (TESE/micro-TESE) + ICSI | 40-60% sperm retrieval (non-obstructive); 30-50% live birth rate with ICSI |
| Ejaculatory dysfunction | Sperm retrieval from urine (retrograde ejaculation treated with sympathomimetics: pseudoephedrine, imipramine) | Variable |
Erectile Dysfunction (ED)
| Parameter | Detail |
|---|---|
| Definition | Consistent or recurrent inability to attain and/or maintain penile erection sufficient for satisfactory sexual intercourse, lasting >=3 months |
| Prevalence | 30-50% of men aged 40-70; 5-15% complete ED |
| Pathophysiology | Organic (vascular 70%, neurogenic 15%, hormonal 5%, drug-induced) vs Psychogenic (~10-15%) |
ED Risk Factors and Causes
| Category | Conditions | Evaluation |
|---|---|---|
| Vascular | Atherosclerosis, hypertension, diabetes (3x risk), smoking, hyperlipidemia, pelvic radiation | History, CV risk assessment, nocturnal penile tumescence testing, penile Doppler ultrasound (if indicated) |
| Neurologic | Spinal cord injury, multiple sclerosis, stroke, Parkinson disease, peripheral neuropathy (diabetic), pelvic surgery (prostatectomy, rectal surgery) | Neurologic examination |
| Hormonal | Hypogonadism (low testosterone), hyperprolactinemia, thyroid disorders | Morning testosterone (total and free), prolactin, LH, TSH |
| Drug-induced | Antihypertensives (beta-blockers, thiazides), antidepressants (SSRIs, SNRIs), antipsychotics, antiandrogens, alcohol, opioids, cocaine | Medication review |
| Psychogenic | Performance anxiety, relationship issues, depression, stress | History: situational vs global, morning erections present (suggests psychogenic) |
ED Treatment
| Step | Treatment | Indications | Notes |
|---|---|---|---|
| 1 | Lifestyle modification | All patients | Exercise, weight loss, smoking cessation, moderate alcohol, sleep improvement |
| 2 | Oral PDE5 inhibitors | First-line pharmacotherapy | Sildenafil (Viagra), tadalafil (Cialis), vardenafil (Levitra), avanafil (Stendra); all are contraindicated with nitrates; tadalafil has 36-hour window |
| 3 | Intraurethral alprostadil | PDE5i failure | Prostaglandin E1 pellet (MUSE); local side effects |
| 4 | Intracavernosal injection | PDE5i failure | Alprostadil, papaverine, phentolamine (Bimix, Trimix); risk of priapism, fibrosis |
| 5 | Vacuum erection device | Non-pharmacologic | Mechanical pump with constriction ring; bruising, discomfort |
| 6 | Low-intensity shock wave therapy | Vascular ED (emerging) | Moderate evidence |
| 7 | Penile prosthesis (implant) | Refractory ED | Inflatable or malleable; high satisfaction rate; risk of infection (1-3%) |
Benign Prostatic Hyperplasia (BPH)
| Parameter | Detail |
|---|---|
| Definition | Non-malignant enlargement of the prostate gland due to hyperplasia of stromal and epithelial cells in the transition zone |
| Prevalence | 50% of men by age 60, 90% by age 85 |
| Pathophysiology | Androgen-dependent (testosterone DHT via 5-alpha-reductase); increased smooth muscle tone (alpha-1 adrenergic) and glandular enlargement -> bladder outlet obstruction -> lower urinary tract symptoms (LUTS) |
BPH Symptom Severity (International Prostate Symptom Score - IPSS)
| Score | Category |
|---|---|
| 0-7 | Mild |
| 8-19 | Moderate |
| 20-35 | Severe |
BPH Treatment
| Category | Examples | Mechanism | Efficacy | Side Effects |
|---|---|---|---|---|
| Alpha-blockers | Tamsulosin, alfuzosin, terazosin, doxazosin, silodosin | Relax smooth muscle in prostate/bladder neck | Rapid onset (days to weeks), reduces IPSS by 4-6 points | Orthostatic hypotension, dizziness, rhinitis (non-selective); retrograde ejaculation (tamsulosin, silodosin) |
| 5-alpha-reductase inhibitors | Finasteride, dutasteride | Inhibit conversion of testosterone to DHT, reduce prostate volume (20-30% in 6-12 months) | Slower onset (6-12 months), reduces IPSS by 3-5 points, reduces AUR and surgery risk | Sexual dysfunction (libido, ED, ejaculatory dysfunction), gynecomastia, decreased PSA by 50% |
| Combination therapy | Alpha-blocker + 5-ARI | Both mechanisms | Superior to either alone for progression/symptoms | Combined side effects |
| PDE5 inhibitors | Tadalafil 5 mg daily | Relax smooth muscle in prostate, bladder, and penis | Reduces IPSS by 3-5 points | Same as ED treatment |
| Antimuscarinics | Solifenacin, tolterodine, fesoterodine | Bladder relaxants (for storage symptoms) | For predominant storage symptoms (frequency, urgency, nocturia) | Dry mouth, constipation, urinary retention (risk with PVR >200 mL) |
| Beta-3 agonists | Mirabegron, vibegron | Bladder relaxants (beta-3 receptor) | Alternative to antimuscarinics for storage symptoms | HTN, UTI, headache |
Minimally Invasive and Surgical BPH Treatment
| Procedure | Indication | Advantages | Disadvantages |
|---|---|---|---|
| Transurethral resection of prostate (TURP) | Gold standard for moderate-severe BPH | Durable, effective | Bleeding, TUR syndrome (hyponatremia), retrograde ejaculation (65-80%), ED (5-10%) |
| Laser therapy (HoLEP, GreenLight PVP, ThuLEP) | Alternative to TURP, especially for large prostates, anticoagulated patients | Less bleeding, shorter catheter time, effective for large prostates | Learning curve (HoLEP), retrograde ejaculation |
| UroLift (PUL) | Small-medium prostates (<80 g), no median lobe | Preservation of ejaculation, rapid recovery | Lower long-term efficacy, no effect on prostate size |
| Rezum (water vapor thermal therapy) | Small-medium prostates | Preservation of ejaculation, office-based | Transient dysuria/hematuria, delayed improvement |
| TUMT/TUNA | Older, less invasive | Minimal anesthesia | Less durable, re-treatment common |
| Simple prostatectomy | Very large prostates (>100 g), BPH with bladder stones/diverticula | Definitive for large prostates | Longer recovery, more bleeding, open or robotic |
| Prostate artery embolization (PAE) | Large prostates, poor surgical candidate | Minimally invasive, preserves ejaculation | Limited availability, radiation exposure |
Sexually Transmitted Infections (STIs)
Common Bacterial STIs
| Disease | Pathogen | Incubation | Presentation | Diagnosis | Treatment (CDC 2024) | Complications if Untreated |
|---|---|---|---|---|---|---|
| Chlamydia | Chlamydia trachomatis (serovars D-K) | 7-21 days | Often asymptomatic (70% women, 50% men); mucopurulent cervicitis/vaginal discharge, dysuria; men: urethritis with discharge, dysuria | NAAT (urine, cervical, urethral, rectal, pharyngeal) - test of choice | Azithromycin 1g PO single dose OR Doxycycline 100mg BID x7 days | PID, ectopic pregnancy, tubal infertility, epididymitis, reactive arthritis, neonatal conjunctivitis/pneumonia |
| Gonorrhea | Neisseria gonorrhoeae | 2-14 days | Often asymptomatic (50-80% women, 10-20% men); purulent discharge, dysuria, cervicitis, PID; men: profuse purulent urethral discharge, dysuria | NAAT (urine, swab) - test of choice; culture for resistance monitoring | Ceftriaxone 500mg IM single dose (plus azithromycin 1g if chlamydia not ruled out) | PID, infertility, disseminated gonococcal infection (arthritis, tenosynovitis, dermatitis, endocarditis, meningitis) |
| Syphilis | Treponema pallidum | 9-90 days (avg 21 days) | Primary: painless chancre (genital/oral); Secondary: rash (palms/soles), fever, lymphadenopathy, condyloma lata; Latent: asymptomatic; Tertiary: gumma, cardiovascular, neurosyphilis (tabes dorsalis, general paresis) | Serology: non-treponemal (VDRL, RPR) + treponemal (FTA-ABS, TP-PA, EIA); darkfield microscopy of chancre | Primary/Secondary/Early Latent: Benzathine penicillin G 2.4 million U IM x1; Late Latent/Tertiary: x3 doses at weekly intervals; Neurosyphilis: Aqueous penicillin G 18-24 million U/day IV x10-14 days | Tertiary syphilis (gummatous, cardiovascular, neurologic); congenital syphilis (stillbirth, neonatal death, deafness, blindness, intellectual disability) |
| Chancroid | Haemophilus ducreyi | 4-10 days | Painful genital ulcers (non-indurated, ragged edges) + painful inguinal lymphadenopathy (bubo) | Clinical (culture, PCR available but limited) | Azithromycin 1g PO x1 OR Ceftriaxone 250mg IM x1 OR Ciprofloxacin 500mg PO BID x3 days | Inguinal bubo rupture, phimosis, increased HIV transmission |
| Lymphogranuloma venereum (LGV) | C. trachomatis (L1-L3) | 3-30 days | Primary: painless ulcer (often unnoticed); Secondary: painful inguinal lymphadenopathy (buboes), proctocolitis; Tertiary: fibrosis, lymphedema, genital elephantiasis | NAAT (LGV-specific PCR), serology (MIF) | Doxycycline 100mg PO BID x21 days | Genital elephantiasis, strictures, fistulas |
Common Viral STIs
| Disease | Pathogen | Incubation | Presentation | Diagnosis | Treatment | Prevention |
|---|---|---|---|---|---|---|
| HPV (genital warts) | Human papillomavirus (types 6, 11 most common for warts; 16, 18 for cervical cancer) | Weeks to months (warts); years (cervical dysplasia) | Genital warts (condyloma acuminata): flesh-colored papules on external genitalia, perineum, perianal region; cervical dysplasia: asymptomatic (detected by Pap smear) | Clinical (warts); Pap smear + HPV testing (cervical); biopsy if atypical | Topical: podophyllotoxin, imiquimod, sinecatechins; Ablative: cryotherapy, laser, TCA, surgical excision | HPV vaccine (9-valent covers types 6, 11, 16, 18, 31, 33, 45, 52, 58) - recommended 11-12 years; catch-up to age 45 |
| Herpes simplex (HSV) | HSV-1 (increasing cause of genital), HSV-2 (traditional genital) | 2-12 days | Primary: painful vesicles, ulcers, fever, lymphadenopathy; Recurrent: prodrome (tingling, burning) then vesicles -> ulcers -> crusting; shedding: subclinical | PCR from vesicle/swab (test of choice); serology (type-specific: HSV-1 vs HSV-2 IgG) | Primary/Recurrent: Acyclovir, valacyclovir, famciclovir x7-10 days (primary) or x1-5 days (recurrent); Suppressive: valacyclovir 500-1000mg daily or acyclovir 400mg BID | Antiviral suppression reduces transmission; condoms reduce risk (not 100%); no vaccine |
| HIV | HIV-1, HIV-2 | 2-4 weeks (acute), years (chronic) | See Infectious Diseases article | 4th gen Ag/Ab test, NAT, p24 antigen | ART (see Infectious Diseases) | PrEP, PEP, condoms, U=U |
| Molluscum contagiosum | MCV (poxvirus) | 2 weeks - 6 months | Dome-shaped, umbilicated papules (usually mild, self-limited) | Clinical | Curettage, cryotherapy, cantharidin (watchful waiting in children) | Avoid skin-to-skin contact |
Pelvic Inflammatory Disease (PID)
| Parameter | Detail |
|---|---|
| Definition | Infection and inflammation of the upper female genital tract (endometritis, salpingitis, oophoritis, peritonitis, tubo-ovarian abscess) |
| Etiology | Chlamydia trachomatis (most common), Neisseria gonorrhoeae, genital mycoplasmas, bacterial vaginosis-associated organisms, enteric organisms |
| Presentation | Lower abdominal pain (90%), cervical motion tenderness, adnexal tenderness, abnormal vaginal/cervical discharge, fever, dysuria, intermenstrual bleeding |
| Diagnosis | Clinical (minimal criteria: cervical motion tenderness OR uterine tenderness OR adnexal tenderness in sexually active young woman with risk of STI); additional criteria: fever, leukocytosis, elevated ESR/CRP, documented cervicitis (mucopurulent discharge, WBC on saline microscopy) |
| Long-term complications | Tubal infertility (15-20% after one episode, 50-60% after three episodes), ectopic pregnancy (6-10x increased risk), chronic pelvic pain (20%) |
PID Treatment (CDC 2024)
| Regimen | Drugs | Notes |
|---|---|---|
| Parenteral (moderate-severe, inpatient) | Ceftriaxone 1g IV q24h + Doxycycline 100mg IV/PO q12h +/- Metronidazole 500mg IV q12h | Transition to oral at 24-48 hours after clinical improvement |
| Oral (mild-moderate, outpatient) | Ceftriaxone 500mg IM x1 + Doxycycline 100mg PO BID x14 days +/- Metronidazole 500mg PO BID x14 days | Close follow-up at 48-72 hours |