UTI & Pyelonephritis
| Condition | Organism | Symptoms | Diagnosis | Treatment |
|---|---|---|---|---|
| Uncomplicated cystitis (women) | E. coli (85%), S. saprophyticus (young women), Klebsiella, Proteus | Dysuria, frequency, urgency, suprapubic pain; no fever | UA: pyuria, bacteriuria, nitrites (gram-neg), leukocyte esterase; culture if complicated | Nitrofurantoin Γ 5 days or TMP-SMX Γ 3 days or fosfomycin Γ 1 dose |
| Complicated UTI | Broader spectrum; resistant organisms more common | Male, pregnant, immunocompromised, structural abnormality, catheter-associated | Urine culture required | Fluoroquinolone or augmentin Γ 7β14 days based on sensitivities |
| Pyelonephritis (uncomplicated) | E. coli most common | Fever (>38Β°C), chills, flank pain, CVA tenderness, nausea/vomiting + lower UTI symptoms | UA + urine culture; CBC (leukocytosis); imaging if no improvement after 48β72h | Outpatient: ciprofloxacin Γ 7 days or TMP-SMX Γ 14 days; Inpatient: IV ceftriaxone or fluoroquinolone |
| Recurrent UTI (women) | E. coli predominant | β₯2 in 6 months or β₯3 in 1 year | Culture each episode | Prophylactic nitrofurantoin, post-coital prophylaxis, topical vaginal estrogen (postmenopause) |
π― Boards PearlAsymptomatic bacteriuria: ONLY treat in pregnancy (risk of pyelonephritis and preterm labor) and prior to urologic procedures. Do NOT treat in elderly, catheterized patients, or DM patients β increases resistance without benefit. Proteus mirabilis causes struvite (staghorn) kidney stones via urease splitting urea to ammonia β alkaline urine. S. saprophyticus is the classic UTI in young, sexually active women (coagulase-negative staph).
BPH & Prostate Cancer
Benign Prostatic Hyperplasia (BPH)
Hyperplasia of periurethral transitional zone (not peripheral zone like cancer) β urethral compression β LUTS. DHT (5-alpha-reductase converts testosterone β DHT) drives prostate growth. LUTS: obstructive (hesitancy, weak stream, intermittency, incomplete emptying, post-void dribbling) and irritative (frequency, urgency, nocturia).
BPH Management β AUA Symptom Score
| Severity | Score | Treatment |
|---|---|---|
| Mild | 0β7 | Watchful waiting; lifestyle modification (limit evening fluids, caffeine, alcohol) |
| Moderate | 8β19 | Alpha-blocker (tamsulosin, alfuzosin, doxazosin β relax smooth muscle, rapid onset) Β± 5-alpha-reductase inhibitor (finasteride, dutasteride β reduce prostate size, 6-month delay) |
| Severe | 20β35 | Combination therapy; consider surgery (TURP) for refractory/complications |
Prostate Cancer
Most common cancer in men; second leading cause of cancer death. Arises in peripheral zone. Risk factors: age, AA race, positive family history. Usually adenocarcinoma; Gleason grading system (sum of two most prevalent grades, 1β5; Gleason 6β10; grade groups 1β5).
π₯ Prostate Cancer ScreeningPSA + DRE (digital rectal exam). USPSTF: shared decision-making for screening ages 55β69; individual decision. PSA >4 ng/mL (or >2.5 in young men or significant rise) β consider biopsy. Free PSA: lower ratio of free:total PSA = higher cancer risk. PSA velocity: rapid rise concerning. Treatment: localized β active surveillance vs. radical prostatectomy vs. radiation. Metastatic: androgen deprivation therapy (ADT) Β± chemotherapy (docetaxel), enzalutamide, abiraterone.
Sexually Transmitted Infections
| STI | Organism | Presentation | Diagnosis | Treatment |
|---|---|---|---|---|
| Chlamydia | C. trachomatis | Often asymptomatic; urethritis, cervicitis, PID; epididymitis; reactive arthritis (Reiter's) | NAAT (urine or swab) β gold standard | Doxycycline Γ 7 days (1st line) or azithromycin 1g Γ 1 dose |
| Gonorrhea | N. gonorrhoeae | Purulent urethral/cervical discharge; PID; disseminated: dermatitis-arthritis syndrome | NAAT; culture for resistance testing | Ceftriaxone 500mg IM Γ 1 dose (dual therapy with doxycycline if chlamydia not excluded) |
| Syphilis | T. pallidum | 1Β°: painless chancre. 2Β°: diffuse rash (palms/soles), condyloma lata, flu-like. 3Β°: gummas, tabes dorsalis, aortitis. Latent: asymptomatic | Non-treponemal (RPR, VDRL) for screening/monitoring; treponemal (FTA-ABS) for confirmation | 1Β°/2Β°/early latent: benzathine penicillin G 2.4M units IM Γ 1; late latent/3Β°: Γ 3 doses; neurosyphilis: IV penicillin G 14 days |
| Herpes (HSV-2) | HSV-2 (genital); HSV-1 (increasing) | Painful vesicles/ulcers on genitalia; prodrome of burning/tingling; recurs periodically; neonatal herpes risk | PCR swab of lesion (most sensitive); serology (HSV IgG) for type | Acyclovir/valacyclovir: 1st episode Γ 7β10 days; recurrent Γ 5 days; daily suppression for frequent recurrences or serodiscordant couples |
| Trichomonas | T. vaginalis (protozoan) | Frothy, malodorous, yellow-green discharge; strawberry cervix; pruritus; male often asymptomatic | NAAT (most sensitive); wet mount: motile trichomonads | Metronidazole 2g Γ 1 or 500mg BID Γ 7 days; treat partner |
| HPV | HPV (types 6/11 = warts; 16/18 = cancer) | Genital warts (condyloma acuminata); cervical, anal, oropharyngeal cancer | Clinical; Pap smear; colposcopy/biopsy; HPV co-testing | Warts: podophyllin, imiquimod, cryotherapy, excision; cancer: Pap/HPV surveillance; vaccine (Gardasil-9 through age 26, consider 27β45) |
Polycystic Ovary Syndrome (PCOS)
Pathophysiology
PCOS is the most common endocrine disorder in women of reproductive age (5β10%). Exact mechanism unknown; key features: insulin resistance β hyperinsulinemia β increased ovarian androgen production + decreased SHBG β elevated free testosterone. Disrupted GnRH pulsatility β elevated LH:FSH ratio β excess androgen production, arrested follicular development, oligo/anovulation.
Rotterdam Criteria (2 of 3)
- Oligo/anovulation (irregular periods or absence)
- Clinical or biochemical hyperandrogenism (hirsutism, acne, alopecia; elevated free testosterone)
- Polycystic ovaries on ultrasound (β₯12 follicles 2β9mm per ovary or volume >10 mL)
π₯ ManagementLifestyle modification: weight loss 5β10% improves cycle regularity and reduces androgens. Combined OCP: regulate cycles, reduce hirsutism/acne (1st line for non-fertility goals). Metformin: improves insulin sensitivity; useful for metabolic features, menstrual irregularity. Fertility: clomiphene or letrozole (1st line for ovulation induction); gonadotropins; IVF. Spironolactone: anti-androgen for hirsutism/acne (not for women trying to conceive). Screen annually for DM and CVD risk. Endometrial cancer risk elevated (chronic unopposed estrogen from anovulation).
Endometriosis
Pathophysiology
Endometrial glands and stroma outside the uterine cavity β ectopic implants respond to cyclic hormones β inflammation, fibrosis, and adhesions. Common sites: ovaries (endometrioma/"chocolate cyst"), peritoneum, uterosacral ligaments, rectovaginal septum. Theories: retrograde menstruation (most accepted), coelomic metaplasia, lymphatic/hematogenous spread.
Clinical Features & Management
| Feature | Detail |
|---|---|
| Classic symptoms | Dysmenorrhea (cyclic pelvic pain worsening with menstruation), dyspareunia (deep), dyschezia (painful defecation), infertility (~30β50% with endometriosis) |
| Diagnosis | Clinical suspicion; transvaginal ultrasound (endometriomas); MRI; definitive = laparoscopy with histology |
| Treatment (pain) | NSAIDs; combined OCP (suppress endometrial growth); progestins (medroxyprogesterone, norethindrone); GnRH agonists (leuprolide β creates pseudomenopause; add-back estrogen to prevent bone loss); surgery for severe/refractory |
| Treatment (fertility) | Surgical excision of endometriomas/adhesions; IVF for severe disease |
Gynecologic Cancers
| Cancer | Key Risk Factors | Presentation | Screening/Diagnosis | Notes |
|---|---|---|---|---|
| Cervical | HPV (16/18), smoking, multiple partners, early sexual activity, immunosuppression | Abnormal vaginal bleeding (post-coital, irregular); advanced: pelvic pain, weight loss | Pap smear (cytology) + HPV co-testing; colposcopy + biopsy for abnormal results | Pap q3yr (21β65) or Pap + HPV q5yr (30β65); most preventable with HPV vaccine + screening; SCC most common type (squamous); adenocarcinoma increasing |
| Endometrial | Unopposed estrogen (obesity, PCOS, nulliparity, late menopause, ERT, tamoxifen), Lynch syndrome | Post-menopausal bleeding (PMB) β any PMB requires workup | Endometrial biopsy (gold standard); transvaginal ultrasound (endometrial stripe >4mm in postmenopause) | Most common gynecologic malignancy in US; Type 1 (endometrioid, estrogen-dependent) vs. Type 2 (serous/clear cell, not hormone-related, worse prognosis) |
| Ovarian | BRCA1/BRCA2, Lynch syndrome, nulliparity, endometriosis; OCPs are PROTECTIVE | Vague: bloating, early satiety, pelvic pressure, urinary urgency; often diagnosed late (Stage IIIβIV) | No effective screening; CA-125 + transvaginal U/S in high-risk; biopsy for diagnosis | Most lethal gyn malignancy; epithelial type most common (serous carcinoma); germ cell tumors in young women (dysgerminoma, yolk sac tumor); granulosa cell tumors produce estrogen |
Obstetric Complications
| Condition | Definition | Features | Management |
|---|---|---|---|
| Ectopic Pregnancy | Implantation outside uterine cavity (95% in fallopian tube) | Amenorrhea + lower abdominal pain + vaginal bleeding; beta-hCG positive but no IUP on ultrasound; hCG rises <50% in 48h (abnormal); ruptured: hypotension, shoulder pain (hemoperitoneum) | Unruptured + stable: methotrexate (if criteria met). Ruptured or unstable: emergency surgery (salpingectomy or salpingostomy) |
| Preeclampsia | BP β₯140/90 on β₯2 occasions β₯4 hours apart after 20 weeks + proteinuria (>300mg/24h) OR severe features (BP β₯160/110, thrombocytopenia, renal insufficiency, impaired liver function, visual symptoms, pulmonary edema) | Usually asymptomatic; severe: headache, visual changes, RUQ/epigastric pain, edema; risks: seizures (eclampsia), HELLP syndrome, placental abruption, stroke | Definitive: delivery. BP management: labetalol, hydralazine, nifedipine (oral). Seizure prophylaxis: magnesium sulfate. Delivery at 37 weeks if stable; earlier for severe features |
| HELLP Syndrome | Hemolysis + Elevated Liver enzymes + Low Platelets; variant of severe preeclampsia | RUQ/epigastric pain, nausea, malaise, jaundice; labs: hemolysis (LDH >600, indirect bili elevated), AST >70, platelets <100K; DIC risk | Emergent delivery regardless of gestational age; magnesium sulfate; correct coagulopathy; may use corticosteroids to enhance fetal lung maturity if 34 weeks |
| Gestational Diabetes | Glucose intolerance first identified during pregnancy | Often asymptomatic; diagnosed with 1-hr 50g GCT (>140) β 3-hr 100g OGTT; ACOG: universal screen 24β28 weeks | Diet/exercise β insulin if glucose goals not met (metformin/glyburide are alternatives but not preferred). Risks: macrosomia, shoulder dystocia, neonatal hypoglycemia, polyhydramnios, preeclampsia |
π― Boards PearlMagnesium sulfate toxicity: loss of patellar reflex (first sign), respiratory depression, cardiac arrest. Antidote: calcium gluconate IV. Ectopic pregnancy: "Never, never, never put methotrexate in a patient who could rupture." Rule out surgical emergency first. Risk factors for ectopic: PID history, prior ectopic, IUD (relative risk), prior tubal surgery, smoking, assisted reproduction.
Genetic Disorders & Differences of Sex Development
Differences of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex is atypical. Categories include sex chromosome DSDs (e.g., Klinefelter syndrome 47,XXY; Turner syndrome 45,X), 46,XY DSD (e.g., androgen insensitivity, 5-alpha-reductase deficiency), and 46,XX DSD (e.g., congenital adrenal hyperplasia).
Klinefelter Syndrome (47,XXY)
- Most common sex chromosome aneuploidy in males (~1 in 500β1,000 live male births)
- Etiology: meiotic nondisjunction producing an extra X chromosome
- Clinical: tall stature, long extremities, small firm testes, gynecomastia, sparse body/facial hair, infertility (azoospermia), low testosterone with elevated LH/FSH (hypergonadotropic hypogonadism), learning/behavioral difficulties
- Diagnosis: karyotype (47,XXY); hormonal panel (β testosterone, β LH, β FSH, β estradiol)
- Management: testosterone replacement starting in adolescence; fertility counseling (sperm extraction/ICSI may be possible); treat gynecomastia, osteoporosis risk, metabolic syndrome; multidisciplinary support
π― Boards PearlKlinefelter = tall, infertile male with small testes, gynecomastia, and elevated gonadotropins. Increased risk of breast cancer (compared to other males), osteoporosis, metabolic syndrome, and mediastinal germ cell tumors.
Reference: AMBOSS β Differences (disorders) of sex development
Down Syndrome (Trisomy 21)
- Most common autosomal aneuploidy and leading genetic cause of intellectual disability (~1 in 700 live births); incidence increases with advanced maternal age
- Etiology: meiotic nondisjunction (~95%), Robertsonian translocation (~4%), or mosaicism (~1%)
- Clinical: intellectual disability, characteristic facies (upslanting palpebral fissures, epicanthal folds, flat nasal bridge, small ears), single transverse palmar crease, hypotonia, short stature, brachycephaly
- Associated conditions: congenital heart defects (endocardial cushion/AV septal defect most characteristic), duodenal atresia, Hirschsprung disease, hypothyroidism, atlantoaxial instability, early-onset Alzheimer disease, β risk of ALL/AML
- Prenatal screening: first-trimester combined (nuchal translucency, PAPP-A, Ξ²-hCG); cell-free fetal DNA (cfDNA); quad screen (β hCG, β inhibin A, β AFP, β estriol); confirmatory: CVS or amniocentesis (karyotype)
- Management: multidisciplinary β early intervention, routine screening for cardiac, thyroid, hearing/vision, cervical spine, and hematologic issues
π― Boards PearlQuad screen in Down syndrome: β hCG & inhibin A, β AFP & estriol ("HI low"). Endocardial cushion defect is the classic cardiac lesion. "Double bubble" sign on imaging = duodenal atresia.
Reference: AMBOSS β Down syndrome
Fragile X Syndrome
- Most common inherited cause of intellectual disability; second most common genetic cause overall (after Down syndrome)
- Etiology: X-linked; CGG trinucleotide repeat expansion in the FMR1 gene β hypermethylation and silencing of FMRP. Full mutation: >200 repeats; premutation: 55β200 repeats
- Clinical (males more severely affected): intellectual disability, long narrow face, large protruding ears, prominent jaw, macroorchidism (post-puberty), hyperextensible joints, mitral valve prolapse; behavioral β autism spectrum features, ADHD, anxiety
- Premutation carriers: fragile Xβassociated tremor/ataxia syndrome (FXTAS) in older males; primary ovarian insufficiency (FXPOI) in females
- Diagnosis: molecular testing for CGG repeat number and methylation status of FMR1
- Management: supportive β behavioral/educational interventions, speech and occupational therapy, treatment of comorbid ADHD, anxiety, seizures
π― Boards PearlFragile X = trinucleotide repeat (CGG) with anticipation. Classic triad in males: long face + large ears + macroorchidism. Think Fragile X in boys with autism + intellectual disability.
Reference: AMBOSS β Fragile X syndrome
Turner Syndrome (45,X)
- Monosomy X (or partial loss/mosaicism) in a phenotypic female; ~1 in 2,500 live female births
- Clinical: short stature (most common feature), webbed neck, low posterior hairline, shield chest with widely spaced nipples, cubitus valgus, lymphedema of hands/feet in infancy, streak ovaries β primary amenorrhea and infertility, delayed/absent puberty
- Associated conditions: bicuspid aortic valve and coarctation of the aorta (cardiac screening essential), horseshoe kidney, autoimmune thyroiditis, osteoporosis, hearing loss
- Diagnosis: karyotype (45,X or mosaic 45,X/46,XX); β FSH/LH with β estrogen (hypergonadotropic hypogonadism)
- Management: growth hormone therapy in childhood; estrogen replacement at pubertal age for secondary sexual development and bone health; cardiac imaging (echo/MRI); monitor for thyroid, renal, and hearing issues
π― Boards PearlTurner syndrome: short female + primary amenorrhea + webbed neck. Always screen for bicuspid aortic valve and coarctation of the aorta. Streak gonads carry risk of gonadoblastoma if Y-chromosome material present.
Reference: AMBOSS β Turner syndrome