Lifecycles - Diseases Flashcards
Benign Prostatic Hyperplasia (BPH)
Common in men > 50; characterized by smooth nodular enlargement of the middle and lateral lobes of the periurethral prostate, causing compression of the urethra
Presents with polyuria, nocturia, dysuria, difficulty starting/stopping urine stream; may cause UTI, distension/hypertrophy of the bladder, hydronephrosis
Treated with alpha-1 adrenergic blockers - Prazosin, Terazosin, Tamsulosin (specific for a-1 receptors on the prostate with fewer vascular side effects)
Candida vulvovaginitis
“Yeast infection”
Presents with pruritis, inflammation, and thick, white “cottage cheese” discharge
Lab findings: Gram stain shows pseudo/hyphae and blastospores
Treatment: -azole antifungals
Abruptio Placentae
Premature separation (partial or complete) of placenta from uterine wall prior to full term delivery
Risk factors: Trauma, smoking, hypertension, preeclampsia, cocaine
Presents as abrupt, painful bleeding in the 3rd trimester
Complications: DIC, maternal shock, fetal distress; life threatening for mother and fetus
Placenta Previa
Abnormal attachment of the placenta to the inferior aspect of the uterine wall, either partially or completely obstructing the cervical os
Risk factors: Multiparity, previous C-section
Presents as copious, painless, bright red vaginal bleeding and cervical dilation after 28 weeks gestation
Bicornuate uterus
Two-horned uterus with communicating endometrial cavities, caused by failure of fusion of the two paramesonephric ducts
Associated with recurrent miscarriage; fetal survival rate ~ 60%
Meig’s Syndrome
Clinical syndrome of benign ovarian tumor + ascites + pleural effusion / pneumothorax; pleural effusion and ascites resolves following removal of tumor
Presents with small, hard, palpable ovarian mass + abdominal fullness/discomfort
Findings: Hypoactive bowel sounds, abdominal guarding on deep palpation, fluid wave, diminished breath sounds
21 Hydroxylase Deficiency
Most common cause of congenital adrenal hyperplasia
Characterized by low cortisol, low aldosterone, and increased sex hormones; presents as salt wasting (in infancy) or precocious puberty (in childhood); XX females have virilization
Labs: Hypotension, hyperkalemia, increased renin, increased 17-hydroxyprogesterone
17 Hydroxylase Deficiency
Rare cause of congenital adrenal hyperplasia
Characterized by low cortisol, low sex hormones, and high aldosterone; males present with undescended testes / ambiguous genitalia (under-virilized); females present with lack of secondary sex characteristics
Labs: Hypertension, hypokalemia
11-B-hydroxylase Deficiency
Rare cause of congenital adrenal hyperplasia
Characterized by low cortisol, low aldosterone (but high 11-deoxycorticosterone), and low sex hormones
Presents in XX females as virilization
Labs: Low cortisol, low aldosterone, high 11-deoxycorticosterone –> Hypertension
Brenner Tumor
Least common of the ovarian epithelial tumors; neoplastic proliferation of cells that resemble transitional epithelium of the bladder
Findings: Biopsy shows nests of cells with “coffee-bean” shaped nucleus in a fibrous stroma
Pre-eclampsia
Defined as HTN > 140/90 and proteinuria with or without end-organ damage; usually occurs in 3rd trimester of pregnancy, increased risk with pre-existing HTN, DM, CKD, or autoimmune dz
Pathogenesis is related to formation of abnormally vascularized placenta with maternal endothelial dysfunction, vasoconstriction, and inflammation
Complications: Placental abruption, coagulopathy, renal failure, eclampsia
Treatment: Delivery at 37 (mild) or 34 (severe) weeks, anti-hypertensives, IV Mg to prevent seizures
Eclampsia
Pre-eclampsia + maternal seizures
Risk of maternal death due to hemorrhaging stroke
Treated with immediated delivery, anti-hypertensives, IV magnesium
Molar pregnancy
Complete mole results from fertilization of anucleate egg with sperm, followed by duplication of paternal DNA; partial mole results from fertilization of normal egg with 2 sperm; results in cystic swelling of chorionic villi
Presents with pre-eclampsia (hypertension, proteinuria, edema) before 20 weeks gestation + vaginal bleeding; may also present with hyperthyroidism
Findings: Elevated hCG, increased uterine size, ultrasound shows “honeycombed” appearance to uterus or “cluster of grapes” structure
Disorders of placental attachment / separation
- Placenta accreta - abnormal attachment of the placenta to myometrium, without invasion; most common sub-type
- Placenta increta - abnormal invasion of the placenta into the myometrium
- Placenta percreta - abnormal invasion of the placenta through the myometrial wall and into the uterine serosa; may cause placental attachment to rectum or bladder; risk of massive bleeding, life threatening for mother
Prostatic adenocarcinoma
Common in men > 50; accounts for 32% of all cancers in men but only 13% of cancer mortality
Most commonly arises in the posterior lobe (peripheral zone); diagnosed by elevated PSA with needle biopsy showing small, neoplastic glands amidst normal prostatic stroma
Treatment: Androgen antagonists (Flutamide), continuous GnRH analog administration (Leuprolide), estrogens
Metastases to bone may develop late in disease, characterized by low back pain, elevated alk phos, and elevated PSA
Ectopic Pregnancy
Most commonly located in the ampulla > isthmus > fimbriae > interstitium of the fallopian tube; risk increased with PID / salpingitis, prior tubal surgery
Suspect based on history of amenorrhea, lower-than-expected hCG levels based on dates
Presents with sudden onset lower abdominal pain +/- hypotension; often mistaken for appendicitis
Dx: Ultrasound
Endometrial carcinoma
Most common gynecological neoplasm; peak incidence ~ 60 years. Increased risk associated with prolonged exposure to unopposed estrogen (early menarche / late menopause / nulliparity, estrogen HRT), obesity, HTN, DM
Presents with vaginal bleeding / heavy menstruation
Treated with progestins
Polyhydramnios
Amniotic fluid > 1.5-2L
Associated with fetal malformations of the GI tract (esophageal / duodenal atresia) or anencephaly, which impair ability of fetus to swallow amniotic fluid
Complications: Pre-term labor, maternal respiratory distress
Oligohydramnios
Amniotic fluid < 0.5L; associated with placental insufficiency, bilateral renal agenesis, posterior urethral valves (in males), or other causes which impair renal excretion of urine in utero
Results in Potter Syndrome: Pulmonary Hypoplasia Oligohydramnios Twisted face Twisted skin Extremity Defects Renal failure (in utero)
Potter Syndrome
Clinical syndrome of infants seen as a result of oligohydramnios (amniotic fluid < 0.5L); due to fetal compression in utero
Pulmonary hypoplasia Oligohydramnios Twisted skin Twisted face Extremity defects Renal failure (in utero)
Fibroadenoma
Benign tumor of the breast; most common breast tumor in women < 35
Characterized by small, firm, mobile mass with sharp edges; may increase in size and tenderness with elevated estrogen (pregnancy, prior to menstruation)
No increased risk of malignant breast cancer
Intraductal papilloma
Small, benign tumor of the breast which grows within the lactiferous ducts, typically beneath the areola
May present with serous or bloody nipple discharge
Slightly increased risk for carcinoma of breast
Phyllodes tumor
Benign tumor of breast most often seen in women in their 50s-60s
Characterized by a large, bulky mass of connective tissue and cysts growing within the stroma of the breast
Some may progress to malignancy
Ductal Carcinoma In Situ (DCIS)
Atypical dysplasia of ductal cells which fill the duct lumen but do not penetrate the basement membrane
Seen early as micro-calcifications on mammogram
Comedocarcinoma
A subtype of ductal carcinoma in situ causing caseous necrosis of the duct
Paget disease
Eczematous lesion of the nipple/areola also associated with excoriation, ulceration, crusting, and serosanguinous discharge
Suggests underlying DCIS
*Note: May also be seen on the vulva, where it is NOT associated with underlying malignancy
Cervical dysplasia / Carcinoma in situ
Disordered epithelial growth of cells at the squamocolumnar junction (transition zone)
Classified as CIN 1, 2, or 3/CIS depending on the degree of dysplasia; risk of progression to invasive carcinoma if left untreated
Associated with HPV 16 and 18
Typically asymptomatic but may present with post-coital vaginal bleeding; detected by Pap smear
Risk factors: Multiple sexual partners, early first sexual intercourse, HIV, smoking
Hydrocele
Accumulation of serous fluid between the visceral and parietal layers of the tunica vaginalis, causing bilateral, painless swelling of the testicles
Positive transillumination test
Neural Tube Defects
Failure of neuropore to close ~ 4th week of development
Associated with low folic acid consumption prior to conception and during pregnancy; increased risk with folate antagonists, Carbemazepine, and Valproate
Elevated AFP seen in amniotic fluid and maternal serum
Spina Bifida Occulta
Most common neural tube defect
Failure of the bony spinal canal to close around the spinal cord; dura is intact, does not involve herniation
Usually presents with a tuft of hair or skin dimple at the level of the defect
Meningocele
Herniation of the meninges through the bony spinal canal defect leading to protrusion of a CSF-filled sac
Meningomyelocele
Herniation of meninges and spinal cord through the bony spinal canal defect
Krukenberg Tumor
Bilateral metastasis of adenocarcinoma of the stomach to the ovaries
Finding: Mucin-producing “signet cells” in the ovaries
Mittelschmerz
Transient, mid-cycle ovulatory pain due to bleeding from rupture of the mature follicle; blood irritates the peritoneum and can cause TTP and guarding on physical exam
May mimic appendicitis if the R ovary is involved
Differentiated from ruptured ovarian cyst by the absence of an adnexal mass and normal ovaries by ultrasound
Polycystic Ovarian Syndrome (PCOS)
Most common cause of hyperandrogenism in women (6-8% prevalence)
Overactivity of GnRH pulse generator causes high LH levels with over-production of testosterone; aromatization of testosterone to estrogen inhibits FSH leading to under-development of ovarian follicles
Presents with anovulation, olig/amenorrhea, hirsutism and acne, multiple (8-9) small cysts on the ovaries, and metabolic abnormalities
Increased risk of infertility, metabolic syndrome, and endometrial cancer
Treatment: OCPs to regularize menses, Spironolactone for anti-androgen effects
Clomiphene citrate (hypothalamic SERM - antagonist) and letrozole (aromatase inhibitor) decrease feedback inhibition of hypothalamus by estrogen, increasing pulse generator activity and ovulation
IVC Compression
Caused by compression of the IVC by the fetus when a pregnant woman lays down; decreased venous return reduces pre-load which decreases CO
Presents as hypotension / dizziness with lying down
Women should lay on their left sides to relieve pressure on the IVC applied by the fetus
Leiomyoma
AKA “uterine fibroid” - common, benign tumor of uterine smooth muscle
May be asyptomatic or may cause abnormal uterine bleeding; often estrogen sensitive
Treated with GnRH agonists
Granulosa Cell Ovarian Tumor
Most common sex cord stromal tumor of the ovary
Often produces estrogen and/or progesterone; presents with abnormal uterine bleeding, sexual precocity (in pre-adolescents), breast tenderness
Histology shows Call-Exner bodies (resemble primordial follicles)
Increased risk of endometrial hyperplasia / carcinoma due to unopposed estrogen
Pseudomyxoma peritonei
Filling of the intra-abdominal cavity upon rupture of a mucinous appendiceal tumor
Hemolysis, Elevated Liver Enzymes, Low Platelet (HELLP) Syndrome
Occurs as a complication of severe pre-eclampsia
Treatment is immediate delivery
Acute Fatty Liver of Pregnancy (AFLP)
Occurs as a complication of pre-eclampsia
Lab findings: Low blood glucose (<50 mg/dL) due to decreased hepatic gluconeogenesis, decreased levels of fibrinogen and antithrombin III due to decreased hepatic protein synthesis
Laryngomalacia
Congenital defect of the arytenoid cartilages, derived from the 6th pharyngeal arch; leads to development of “bulky” arytenoid cartilages which prolapse anteromedially with inspiration
Presents as noisy breathing without respiratory distress, exacerbated in the supine position
Fetal alcohol syndrome
Congenital abnormalities include:
Facial abnormalities (small palpebral fissues, thin upper lip, cleft lip) Growth restriction Microcephaly Intellectual Disability Cardiac anomalies (ASD)
Bacterial vaginosis
Caused by gram variable rod Gardernella vaginalis +/- overgrowth of other anaerobic bacteria
Presents as a gray/white vaginal discharge with a fishy odor, non-painful
Diagnosed by the presence of Clue cells (vaginal epithelial cells coated in Gardernella) under the microscope
Treated with metronidazole or clindamycin (for anaerobes)
