Reproductive Pathology

Front 1

Klinefelter's Syndrome

Back 1

XXY Chromosome Abnormality

Testicular atrophy, eunuchoid body shape, tall, long, extremities, gynecomastia, female hair distribution, developmental delay.

Presence of inactivated X chromosome (Barr body).

Dysgenesis of seminiferous tubules ---> low inhibin and increased FSH

Abnormal Leydig cell function ---> low testosterone and increased LH and estrogen

Front 2

Klinefelter's Syndrome

Back 2

Front 3

Turner Syndrome

Back 3

XO Chromosome Abnormality

Short stature, ovarian dysgenesis (streak ovary with infertility), shield chest, bicuspid aortic valve, webbing of neck, (cystic hygroma), lymphedema, preductal coarctation of aorta, horseshoe kidney, dysgerminoma ---> primary amennorhea

No Barr body.

Menopause before menarche; decreased estrogen ---> increased LH And FSH

Front 4

Turner Syndrome

Back 4

Front 5

Double Y Male

Back 5

XYY Chromosome Abnormality

Phenotypically normal, very tall , acne, antisocial behavior, normal fertility, small percentage dx with autism spectrum disorders.

Front 6

High Testosterone

High LH

Back 6

Defective androgen receptor.

Front 7

High Testosterone

Low LH

Back 7

Testosterone-secreting tumor, exogenous steroids.

Front 8

Low Testosterone

High LH

Back 8

Primary hypogonadism.

Front 9

Low Testosterone

Low LH

Back 9

Hypogonadotropic hypogonadism.

Front 10

Pseudohermaphroditism

Back 10

Disagreement between the phenotypic (external genitalia) and gonadal (testes, ovaries) sex.

Front 11

Female Pseudohermaphroditism (XX)

Back 11

Ovaries present, but external genitalia are virilized or ambiguous.

Due to excessive and inappropriate exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy).

Front 12

Male Pseudohermaphroditism (XY)

Back 12

Testes present, but external genitalia are female or ambiguous.

Most common form is androgen insensitivity syndrome (testicular feminization).

Front 13

True Hermaphroditism

Back 13

Both ovary and testicular tissue are present (ovotestis); ambiguous genitalia; very rare.

Front 14

Androgen Insensitivity Syndrome

Back 14

Defect in androgen receptor resulting in normal-appearing female; female external genitalia with rudimentary vagina; uterus and uterine tubes generally absent.

Presents with no sexual hair, develops testes (often found in labia majora; surgically removed to prevent malignancy).

Increased testosterone, estrogen, LH.

Front 15

5 alpha-reductase Deficiency

Back 15

Autosomal recessive; sex limited to genetic males.

Inability to convert testosterone to DHT.

Ambiguous genitalia until puberty when increased testosterone causes masculinization and growth of external genitalia. Normal internal genitalia.

Testosterone/estrogen and LH levels are normal.

Front 16

Kallmann Syndrome

Back 16

Defective development of GnRH cells and olfactory placode.

Decreased synthesis of GnRH in the hypothalamus; anosmia; lack of secondary sexual characteristics, autosomal dominant.

Decreased GnRH, LH, FSH, testosterone, and sperm count.

Front 17

Hydatidiform Mole

Back 17

Cystic swelling of chorionic villi and proliferation of chorionic trophoblasts that presents with abnormal vaginal bleeding.

Most common precursor of choriocarcinoma. "Honeycombed uterus", "cluster of grapes" appearance, abnormally enlarged uterus. Complete moles usually have "snowstorm" appearance with no fetus during 1st sonogram. Moles can lead to uterine rupture.

Increased hCG. Tx is D&C with Methotrexate.

Front 18

Hydatidiform Mole

Back 18

Front 19

Preeclampsia-eclampsia

Back 19

Preeclampsia: pregnancy-induced hypertension, proteinuria, and edema.

Eclampsia: preeclampsia and seizures.

Occurs in 7% of women from 20 wks to 6 wks postpartum. Increased incidence in women with preexisting HTN, diabetes, chronic renal disease, and autoimmune disorders.

Caused by placental ischemia due to impaired vasodilation of spiral arteries, resulting in increased vascular tone.

Can be associated with HELLP Syndrome:
Hemolysis
Elevated LFTs
Low Platelets

Mortality due to cerebral hemorrhage and ARDS.

Front 20

Clinical Features of Preeclampsia

Back 20

Headache, blurred vision, abdominal pain, edema of face and extremities, altered mentation, hyperreflexia; lab findings may include thrombocytopenia, hyperuricemia.

Front 21

Treatment of Preeclampsia

Back 21

Delivery of fetus as soon as viable. Otherwise, bedrest, salt-restriction, and monitoring and treatment of HTN.

IV magnesium sulfate and diazepam to prevent and treat seizures of eclampsia.

Front 22

Abruptio Placentae

Back 22

Premature detachment of placenta from implantation site, fetal death.

May be associated with DIC, smoking, HTN, cocaine use.

Front 23

Types of Placental Abruption

Back 23

Front 24

Placenta Accreta

Back 24

Accreta - "encased in" - encased in myometrium.

Defective decidual layer allows placenta to attach to myometrium; no separatin of placenta at birth.

Increase risk with prior c-section, inflammation, and placenta previa.

Massive bleeding after delivery.

Front 25

Types of Placenta Accreta

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Front 26

Placenta Previa

Back 26

Attachment of placenta to lower uterine segment; may occlude internal os.

Increased risk with multiparity and prior c-section.

Painless bleeding in any trimester.

Front 27

Types of Placenta Previa

Back 27

Front 28

Ectopic Pregnancy

Back 28

Most often in fallopian tubes; suspect with history of amenorrhea, increased hCG, and sudden lower abdominal pain; confirm with ultrasound.

Endometrial biopsy shows decidualized endometrium but no chorionic villi (develops only in intrauterine pregnancy).

Presents as pain with out without bleeding.

Risk factors are history of infertility, salpingitis, PID, ruptured appendix, prior tubal surgery.

Front 29

Retained Placental Tissue

Back 29

May cause postpartum hemorrhage.

Front 30

Polyhydramnios

Back 30

> 1.5-2 L of amniotic fluid; associated with esophageal/duodenal atresia, causing inability to swallow amniotic fluid, and with anencephaly.

Front 31

Oligohydramnios

Back 31

< 0.5 L of amniotic fluid; associated with placental insufficiency, bilateral renal agenesis, or posterior urethral valves (in males) and resultant inability to excrete urine.

Can give rise to Potter's syndrome.

Front 32

Cervical Dysplasia and Carcinoma In Situ

Back 32

Disordered epithelial growth; begins at basal layer of squamo-columnar junction and extends outward. Classified as CIN 1, CIN 2, or CIN 3 depending on extent of dysplasia. May progress to invasive carcinoma if left untreated.

Associated with HPV 16 and 18.

Risk factors: multiple sex partners, smoking, early sexual intercourse, HIV infection.

Front 33

Cervical Invasive Carcinoma

Back 33

Often squamous cell carcinoma.

Pap smear can catch cervical dysplasia (koilocytes) before it progresses to invasive carcinoma.

Lateral invasion can block ureters, causing renal failure.

Front 34

Endometritis

Back 34

Inflammation of the endometrium associated with retained products of conception following delivery (vaginal, C-section), miscarriage, abortion, foreign body, IUD.

Retained material in uterus promotes infection by bacterial flora from vagina or intestinal tract.

Presents as abdominal pain, fever, uterine tenderness, menstrual abnormalities, infertility.

Treatment: Cefoxitin, ticarcillin-clavulanate, ampicillin-sulbactam.

Front 35

Endometriosis

Back 35

Non-neoplastic endometrial glands/stroma in abnormal locations outside the uterus.

Characterized by cyclic bleeding from ectopic endometrial tissue resulting in blood-filled "chocolate cysts" in ovary or peritoneum.

Manifests clinically as severe menstrual-related pain. Menorrhagia, dysmenorrhea, dyspareunia. Often results in pain intercourse and infertility. Can be due to retrograde menstrual flow.

Uterus is normal-sized.

Front 36

Adenomyosis

Back 36

Endometrium within the myometrium.

Menorrhagia, dysmenorrhea, pelvic pain, uterus is enlarged.

Treatment is hysterectomy.

Front 37

Endometrial Hyperplasia

Back 37

Abnormal endometrial gland proliferation usually caused by excess estrogen stimulation.

Increase risk for endometrial carcinoma.

Manifests as postmenopausal vaginal bleeding.

Risk factors include anovulatory cycles, HRT, PCOS, and granulosa cell tumor.

Front 38

Endometrial Carcinoma

Back 38

Most common gynecologic malignancy typically preceded by endometrial hyperplasia. Presents with vaginal bleeding.

Peak occurence at 55-65 years old.

Risk factors include prolonged use of estrogen without progestins, obesity, diabetes, HTN, nulliparity, and late menopause.

Increased myometrial invasion ---> decreased prognosis

Front 39

Leiomyoma

Back 39

Whorled pattern of smooth muscle bundles - myometrial fibroid tumor; most common female tumor.

Often presents with multiple tumors with well-demarcated borders. Benign smooth muscle tumor; malignant transformation is RARE.

Estrogen-sensitive; tumor size increases in pregnancy and decreases in menopause.

Peak occurrence at 20-40 years of age; increased incidence in black.

May be asymptomatic, causes abnormal uterine bleeding, or results in miscarriage. Severe bleeding may lead to iron deficiency anemia.

Front 40

Leiomyosarcoma

Back 40

Bulky, irregularly shaped tumor with areas of necrosis and hemorrhage; typically arising de novo (not from Leiomyoma).

Highly aggressive tumor with tendency to recur. May protrude into cervix and bleed.

Most commonly seen in middle-aged women and increased incidence in blacks.

Front 41

Gynecologic Tumor Epidemiology

Back 41

Incidence: endometrial > ovarian > cervical (US); cervical cancer is most common worldwide.

Worst prognosis: ovarian > cervical > endometrial.

Front 42

Premature Ovarian Failure

Back 42

Premature atresia of ovarian follicles in women of reproductive age.

Patient presents with signs of menopause after puberty but before age 40.

Decreased estrogen, increased LH and FSH.

Front 43

Most Common Causes of Anovulation

Back 43

PCOS
Obesity
Asherman's Syndrome (adhesions)
HPO Axis abnormalities
Eating disorders
Cushing's Syndrome
Adrenal Insufficiency

Front 44

PCOS

Back 44

Increased LH, decreased FSH, increased testosterone and estrogen.

Increased LH leads to anovulation, hyperandrogenism due to deranged steroid synthesis by Theca cells. Enlarged, bilateral cystic ovaries.

Manifests as amenorrhea, infertility, obesity, hirsutism, acne. Associated with insulin resistance.

Increase risk of endometrial cancer.

Front 45

Treatment for PCOS

Back 45

Weight reduction, low-dose OCPS, medroxyprogesterone (decreases LH and androgenesis), spironolactone (acne and hirsutism), clomiphene for women who want to get pregnant.

Front 46

US of PCOS

Back 46

Front 47

Follicular Ovarian Cyst

Back 47

Distention of unruptured graafian follicle.

May be associated with hyperestrinism and endometrial hyperplasia.

Most common ovarian mass in young women.

Front 48

Corpus Luteum Cyst

Back 48

Hemorrhage into persistent corpus luteum.

Commonly regresses spontaneously.

Front 49

Theca-Lutein Cyst

Back 49

Often bilateral/multiple.

Due to gonadotropin stimulation. Associated with choriocarcinoma and moles.

Front 50

Hemorrhagic Cyst

Back 50

Blood vessel rupture in cyst wall. Cyst grows with increased blood retention; usually self-resolves.

Front 51

Dermoid Cyst

Back 51

Mature teratoma.

Cystic growths filled with various types of tissues such as fat, hair, teeth, bits of bone, cartilage.

Front 52

Endometrioid Cyst

Back 52

Endometriosis within ovary with cyst formation.

Varies with menstrual cycle. When filled with dark, reddish-brown blood it is called a "chocolate cyst".

Front 53

Ovarian Germ Cell Tumors

Back 53

Most common in adolescents.

Front 54

Ovarian Germ Cell Tumor: Dysgerminoma

Back 54

Tumor markers: hCG, LDH

Malignant, equivalent to male seminoma but rare (1% of germ cell tumors in females vs. 30% in males). Sheets of uniform cells; associated with Turner Syndrome.

Front 55

Ovarian Germ Cell Tumor: Choriocarcinoma

Back 55

Tumor marker: hCG

Rare but malignant, malignancy of trophoblastic tissue and absence of chorionic villi; can develop during pregnancy in mother or baby, increased frequency of theca-lutein cysts.

Early hematogenous spread to lungs.

Front 56

Ovarian Germ Cell Tumor: Yolk Sac Tumor (Endodermal Sinus)

Back 56

Tumor marker: AFP

Aggressive malignancy in ovaries (testes in boys) and sacrococcygeal area of young children. Yellow, friable, solid masses.

50% had Schiller-Duval bodies that resemble glomeruli.

Front 57

Ovarian Germ Cell Tumor: Teratoma

Back 57

90% of ovarian germ cell tumors that contain cells from 2 or 3 germ layers.

Mature teratoma (dermoid cyst) is most common frequent benign ovarian tumor.

Immature teratoma is aggressively malignant.

Struma ovarii contains functional thyroid tissue and can present as hyperthyroidism.

Front 58

Ovarian Non-Germ Cell Tumor: Serous Cystadenoma

Back 58

20% of ovarian tumors; benign, frequently bilateral, lined with fallopian tube-like epithelium.

Increased CA-125 is a general ovarian cancer marker used for progression but not screening.

Front 59

Ovarian Non-Germ Cell Tumor: Serous Cystadenocarcinoma

Back 59

45% of ovarian tumors; malignant and frequently bilateral. Psammoma bodes seen in histology.

Risk factors: BRCA-1,2, HNPCC, family history.

Front 60

Ovarian Non-Germ Cell Tumor: Mucinous Cystadenoma

Back 60

Multilocular cyst lined by mucus-secreting epithelium. Benign, intestine-like tissue.

Front 61

Ovarian Non-Germ Cell Tumor: Mucinous Cystadenocarcinoma

Back 61

Malignant, Pseudomyxoma peritonei - intraperitoneal accumulation of mucinous materinal from ovarian or appendical tumor.

Front 62

Ovarian Non-Germ Cell Tumor: Brenner Tumor

Back 62

Benign and unilateral; looks like Bladder.

Solid tumor that is pale yellow-tan color and appears encapsulated. "Coffee bean" nuclei on H&E.

Front 63

Ovarian Non-Germ Cell Tumor: Fibromas

Back 63

Bundles of spindle-shaped fibroblasts.

Meigs' syndrome - triad of ovarian fibroma, ascites, and hyrdothorax. Pulling sensation in groin.

Front 64

Ovarian Non-Germ Cell Tumor: Granulosa Cell Tumor

Back 64

Secretes estrogne ---> precocious puberty (kids). Can cause endometrial hyperplasia or carcinoma in adults.

Call-Exner bodies - small follicles filled with eosinophilic secretions.

Abnormal uterine bleeding.

Front 65

Ovarian Non-Germ Cell Tumor: Krukenberg Tumor

Back 65

GI malignancy that metastasizes to ovaries, causing a mucin-secreting signet cell adenocarcinoma.

Front 66

Vaginal Carcinoma

Back 66

1. Squamous cell carcinoma (SCC) secondary to cervical SCC.

2. Clear cell adenocarcinoma - affects women who had exposure to DES in utero.

3. Sarcoma botryoides (rhabdomyosarcoma variant) - affects girls < 4 years of age; spindle shaped tumor cels that are desmin positive.

Front 67

Benign Breast Tumor: Fibroadenoma

Back 67

Small, mobile, firm mass with sharp edges.

Most common tumor in those < 35 years of age.

Increase in size and tenderness with increased estrogen (pregnancy, menstruation). Found in stroma.

NOT a precursor to breast cancer.

Front 68

Benign Breast Tumor: Intraductal Papilloma

Back 68

Small tumor that grows in lactiferous ducts, typically beneath areola.

Serious or blood nipple discharge, slight risk for carcinoma.

Front 69

Benign Breast Tumor: Phyllodes Tumor

Back 69

Large bulky mass of connective tissue and cysts, "leaf-like" projectins found in the stroma.

Most common in 60s, some may become malignant.

Front 70

Malignant Breast Tumors

Back 70

Common postmenopause and arise from mammary duct epithelium or lobular glands most often located in upper-outer quadrant of breast.

Overexpression of estrogen/progesterone receptors or erb-B2 is common and affects therapy and prognosis.

Axillary lymph node involvement is the most important prognostic factor.

Front 71

Risk Factors for Malignant Breast Tumors

Back 71

Increased estrogen exposure

Increased total number of menstrual cycles

Older age at first live birth

Obesity

Front 72

Noninvasive Malignant Breast Tumor:

Ductal Carcinoma In Situ (DCIS)

Back 72

Fills ductal lumen, arises from ductal hyperplasia.

Early malignancy without basement membrane.

Front 73

Noninvasive Malignant Breast Tumor:

Comedocarcinoma

Back 73

Ductal, caseous necrosis, subtype of DCIS.

Front 74

Invasive Malignant Breast Tumor:

Invasive Ductal

Back 74

Firm, fibrous, rock-hard mass with sharp margins and small, glandular, duct-like cells.

Classic "stellate" morphology.

Worst and most invasive, most common (76% of all breast cancers).

Front 75

Invasive Malignant Breast Tumor:

Invasive Lobular

Back 75

Orderly row of cells.

Often multiple and bilateral.

Front 76

Invasive Malignant Breast Tumor:

Medullary

Back 76

Fleshy, cellular, lymphocytic infiltrate.

Good prognosis.

Front 77

Invasive Malignant Breast Tumor:

Inflammatory

Back 77

Dermal lymphatic invasion by breast carcinoma.

P'eau d'orange (breast skin resembles orange peel); neoplastic cells block lymphatic drainage.

50% survival at 5 years.

Front 78

Invasive Malignant Breast Tumor:

Paget's Disease

Back 78

Eczematous patches on nipple. Paget cells = large cells with epidermis with clear halo.

Suggests underlying carcinoma, also found on vulva.

Front 79

Fibrocystic Disease

Back 79

Most common cause of "breast lumps" from age 25 to menopause.

Presents with premenstrual pain and multiple lesions, often bilateral and fluctuation in size of mass.

Usually does not indicate increase risk of carcinoma.

Front 80

Fibrosis Fibrocystic Disease

Back 80

Hyperplasia of breast stroma.

Front 81

Cystic Fibrocystic Disease

Back 81

Fluid filled, blue dome. Ductal dilation.

Front 82

Sclerosing Adenosis Fibrocystic Disease

Back 82

Increased acini and intralobular fibrosis associated with calcifications.

Front 83

Epithelial Hyperplasia Fibrocystic Disease

Back 83

Increase in number of epithelial cell layers in terminal duct lobule.

Increase risk of carcinoma with atypical cells.

Occurs in women > 30 years of age.

Front 84

Acute Mastitis

Back 84

Breast abscess during breast-feeding.

Increase risk of bacterial infection through cracks in the nipple; S. aureus is most common pathogen.

Front 85

Fat Necrosis

Back 85

A benign painless lump that forms as a result of breast tissue trauma.

Front 86

Gynecomastia

Back 86

Results from:

1. Hyperestrogenism - cirrhosis, testicular tumor, puberty, old age.

2. Klinefelter's Syndrome

3. Drugs - estrogen, marijuana, heroin, psychoactive drugs, Spironolactone, Digitalis, Cimetidine, Alcohol, Ketoconazole (Some Drugs Create Awesome Knockers).

Front 87

Prostate Pathology: Prostatitis

Back 87

Dysuria, frequency, urgency, low back pain.

Acute: bacterial (e. coli)

Chronic: abacterial

Front 88

Benign Prostatic Hyperplasia (BPH)

Back 88

Common in men > 50. Hyperplasia of the prostate gland that may be due to an age-related increase in estradiol with possible sensitization of the prostate to growth-promoting effects of DHT.

Nodular enlargement of periurethral (lateral and middle) lobes which compress the urethra into a vertical slit.

Not considered a premalignant lesion. Increased PSA is marker.

Front 89

Clinical Features of BPH

Back 89

Increased frequency of urination, nocturia, difficulty startin and stopping stream of urination, and dysuria.

May lead to distention and hypertrophy of the bladder, hydronephrosis, and UTIs.

Tx: alpha 1-antagonists (terazosin, tamsuloin), finasteride.

Front 90

Prostatic Adenocarcinoma

Back 90

Common in men > 50.

Arises most often from the posterior lobe (peripheral zone) of the prostate gland and is most frequently diagnosed by digital rectal exam (hard nodule) and prostate biopsy.

PAP and PSA are useful tumor markers.

Osteoblastic metastases in bone may develop in late stages.

Front 91

Cryptorchidism

Back 91

Undescended testis (one or both); impaired spermatogenesis (since sperm develop best at temps < 37 C); normal testosterone levels.

Associated with increase risk of germ cell tumors, prematurity increases risk of cryptorchidism.

Decreased inhibin, increased FSH, normal LH and testosterone.

Front 92

Variocele

Back 92

Dilated veins in pampiniform plexus due to increased venous pressure; most common cause of scrotal enlargement in adult males. "Bag of worms" appearance, dx by US.

Most often on left side because of increased resistance to flow from left spermatic vein drainage into the left renal vein.

Can cause infertility. Tx: variocelectomy, embolization.

Front 93

Testicular Germ Cell Tumors

Back 93

95% of all testicular tumors; most often malignant; can present as mixed germ cell tumor.

DDx for testicular mass that does not transilluminate: cancer.

Front 94

Testicular Germ Cell Tumor:

Seminoma

Back 94

Malignant; painless, homogenous testicular enlargement; most common testicular tumor mostly affecting males 15-35.

Large cells in lobules with watery cytoplasm an a "fried egg" appearance. Radiosensitive.

Late metastasis, excellent prognosis.

Front 95

Testicular Germ Cell Tumor:

Embryonal Carcinoma

Back 95

Malignant; painful; worse prognosis that seminoma.

Often glandular/papillary morphology. "Pure" embryonal carcinoma is rare; most commonly mixed with other tumor types.

May be associated with increased hCG and normal AFP when pure (AFP increased when mixed).

Front 96

Testicular Germ Cell Tumor:

Yolk Sac Tumor (Endodermal Sac)

Back 96

Yellow, mucinous. Schiller-Duval bodies resemble primitive glomeruli.

Increased AFP.

Front 97

Testicular Germ Cell Tumor:

Choriocarcinoma

Back 97

Malignant with increased hCG; disordered syncytiotrophoblastic and cytotrophoblastic elements.

Hematogenous metastases to lungs; may produce gynecomastia because hCG is a LH analog.

Front 98

Testicular Germ Cell Tumor:

Teratoma

Back 98

Mature teratoma in males in malignant.

Increased hCG and/or AFP in 50% of cases.

Front 99

Testicular Non-Germ Cell Tumor:

Leydig Cell

Back 99

Contains Reinke crystals; usually androgen producing, gynecomastia in men; precocious puberty in boys; golden brown color.

Front 100

Testicular Non-Germ Cell Tumor:

Sertoli Cell

Back 100

Androblastoma from sex cord stroma.

Front 101

Testicular Non-Germ Cell Tumor:

Testicular Lymphoma

Back 101

Most common testicular cancer in older men; not a primary cancer; arises from lymphoma metastases to testes.

Front 102

Tunica Vaginalis Lesions

Back 102

Lesions in the serous covering of tesis - presents as testicular mass that can be transilluminated.

1. Hydrocele - increased fluid due to incomplete fusion of processus vaginalis.
2. Spermatocele - dilated epididymal tract.

Front 103

Penile Pathology:

SCC

Back 103

More common in Asia, Africa, and South America. Commonly associated with HPV, lack of circumcision.

Front 104

Penile Pathology:

Peyronie's Disease

Back 104

Bent penis due to acquired fibrous tissue formation.

Front 105

Penile Pathology:

Priapism

Back 105

Painful sustained erection not associated with sexual stimulation or desire.

Associated with trauma, sickle cell disease (block vascular channels), medications (anticoagulants, PDE5 inhibitors, antidepressants, alpha-blockers, cocaine).