Reproductive Pathology Flashcards
What are the findings in Klinefelter syndrome? chrom abnorm? Lab findings? Mechanism?
47 XXY
Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution
Maybe developmental delay
Inactivated X chromosome (Barr body)
Dygenesis of semniferous tubules leads to decr. inhibin and incr. FSH
Abnormal leydig cell function leads to decr. testosterone, incr. LH, and thus incr. estrogen.
What is the chrom. abnorm in Turner syndrome? Findings? Lab findings? How does it come about? Is pregnancy possible?
45, XO or 45, XO/46, XX
Short stature Ovarian dysgenesis shield chest bicuspid aortic valve preductal coarctation Lymphatic defects (webbed neck or cystic hygroma) horseshoe kidney menopause before menarche
No barr body
decr. estrogen leads to incr. LH, FSH
Mitotic or meiotic error
pregnancy possible in some cases (oocyte donation, exogenous estradiol and progesterone
Phenotype of double Y males? Cause? Associations?
Phenotypically normal, very tall
Normal fertility
Random non disjunction even (paternal meiosis II)
severe acne, learning disability, autism spectrum disorders.
What is true hermaphroditism?
AKA Ovotesticular disorder of sex development
46, XX or 47 XXY
Both ovarian and testicular tissue present
Ambiguous genitalia
What is a female pseudohermaphrodite like? Pathophys? Male?
Ovaries present
External genitalia virilized or ambiguous
Excessive and inappropriate exposure to androgenic steroids during early gestatio (CAH or exogenous admin of androgens during early pregnancy)
Testes present, but external genitalia are female or ambiguous.
Androgen insensitivity syndrome is most common cause.
What is pathophys of aromatase defic? Phenotype? How can it also present?
Inability to synthesize estrogens from androgens
Masculinization of female infants (ambiguous genitalia)
Incr. serum testosterone and androstenedione
Maternal virilization during pregnancy (fetal androgens cross placenta)
What is the phenotype of androgen insensitivity syndrome? Pathophys? Treatment? Lab findings?
Defect in androgen receptor resulting in normal appearing female (46, XY)
Female external genitalia with scant sexual hair rudimentary vagina
uterus and fallopian absent
Pts develop testes, often in labia majora which must be removed
Incr. testosterone, estrogen, LH
What is the pathophys of 5 alpha reductase defic? Phenotype? Lab findings?
Inability to convert testosterone to DHT
Ambiguous genitalia until puberty, when incr. testosterone causes masculinization/incr. growth of external genitalia
Internal genitalia are normal
Testosterone/estrogen levels normal
LH is normal or incr.
What is the pathophys of kallmann syndrome? Presentation? Lab findings?
Defective migration of GnRH cells and formation of olfactory bulb
Decr. synth of GnRH in hypothal
Infertility
Anosmia
Failure to complete puberty; hypogonadotropic hypogonadism
Decr. GnRH, FSH, LH, testosterone
Concerning diagnosing disorders of sex hormones, test and LH levels:
Incr; incr:
incr; decr:
decr; incr:
decr; decr:
Incr; incr: defective androgen receptor
incr; decr: testosterone secreting tumor, exog steroids
decr; incr: primary hypogonadism
decr; decr: hypogonadotropic hypogonadism
What is a hydatiform mole? Associations? Treatment? Compare and contrast complete mole and partial mole concerning karyotype pathophys, hCG levels, uterine size, choriocarcinoma risk? presence of fetal parts? Symptoms? Imaging findings?
Cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblast)
Theca-lutein cysts, hyperemesis gravidarum, hyperthyroidism
D&C + methotrexate; monitor beta hCG
COMPLETE
Karyo: 46, XX; 46, XY
pathophys: sperm enters enucleated egg then replicates
hCG level: heavily increased
Uterine size: incr.
ChorioCA: 2% risk
fetal parts: no
symptoms: first tri bleeding, enlarged uterus, hyperemesis, pre-eclampsia, hyperthyroidism
Imaging: Honeyocombed uterus or clusters of grapes; snowstorm on U/S
PARTIAL Karyo: 69 pathophys: 2 sperm + 1 egg hCG level: slightly incr. Uterine size: normal ChorioCA: rare fetal parts: yes symptoms: vaginal bleeding, abdominal pain Imaging: fetal parts
Definition of gestational pregnancy? Treatment?
BP>140/90, after 20th week of gestation
No preexisting hypertension
no proteinuria or end organ damage
Antihypertensives (alpha methyl dopa, labetalol, hydralazine, nifedipine)
Deliver at 37-39 weeks
What is definition of preeclampsia? Progression? Complications? Pathophys? epid? Treatment?
New onset hypertension with either proteinuria or end organ dysfunction after 20th week of gestation (
What is eclampsia? Compications? Treatment?
Preeclampsia + maternal seizures
Maternal death due to stroke, ICH, or ARDS
IV magnesium sulfate
Antihypertensives
Immediate delivery
What is HELLP syndrome? Pathophys? Lab findings? Complications? Treatment?
Hemolysis
Elevated Liver enzymes
Low Platelets
Severe preeclampsia
Schistocytes
Hepatic subcapsular hematomas which rupture leading to severe hypotension
Immediate delivery
Pathophys of placental abruption? risk factors? Presntation?
Premature separation of placenta from uterine wall before delivery.
Trama, smoking, hypertension, preeclampsia, cocaine abuse
Presentation: abrupt, painful bleeding in third trimester, possible DIC, maternal shock, fetal distress. Life threatening for both.
Pathophys of placenta accreta/increta/percreta? Risk factors? How are they different? Presentation?
Defective decidual layer leads to abnormal attachment and spearation after delivery
Prior c-section
inflammation
placenta previa
Accreta; attaches to myoetrium
increta: penetrates myometrium
percreta: goes through myometrium, attaches elsewhere
U/S prior to delivery
No separation after delivery leads to postpartum bleeding (sheehan)
What is placenta previa? Risk factors? Presentation?
ATtachment of placenta to lower uterine segment internal os.
Multipartiy, prior c section
painless 3rd tri bleeding.
What is pathophys of vasa previa? Complications? Presentation? Treatment? Assocations?
Fetal vessels run over, or in close proximity to, cervical os.
Membrane rupture
painless vaginal bleeding
fetal bradycardia (no wharton jelly protection in travel to placenta
What are the risks of retained placental tissue?
Postpartum hemorrhage
Incr. risk of infection
Most common location of ectopic pregnancy? When should it be suspected? How is it confirmed? Risk factors?
Ampulla of fallopian tube
Amenorrhea, lower than expected rise in hCG based on dates, and sudden lower abdominal pain
U/S
History of infertility
PID (salingitis)
Ruptured appendix
Prior tubal surgery
What is polyhydramnios? Associations? Oligohydramnios? Assocations? Results?
too much amniotic fluid Fetal malformations (duodenal atresia, anencephaly), maternal diabetes, fetal anemia, multiple gestations
Too little AF
Placental insufficiency, bilateral renal agenesis, posterior urethral valves (in males)
Potter sequence
Incidence is u.s. of endometrial vs. ovarian vs. cervical tumors? prognosis?
endometrial, ovarian, cervical
Ovarian, cervical, endometrial
What are 3 vaginal tumors?
squamous cell carcinoma, clear cell adenoCA, sarcoma botryoides
What is etiology of vaginal SCC? Clear cell adenoCA? Epid of sarcoma botryoides? Histo? STaining? Presentation?
Secondary to cervical SCC
Exposure to DES in utero
Girls
What is cervical dysplasia? Where does it occur? How does it progress? What are the 3 types? What are they like? Pathophys? Progression? Presentation? Risk factors?
Disordered epithelial growth.
Transition Zone
Basal layer and extends outward
CIN 1=mainly basal
CIN 2=close to outer layer
CIN3=CA in situ, all layers
HPV 16 and 18: E6=p53, E7=RB.
May progress to invasive CA.
Typically asymptomatic (see at pap smear) Abnormal vaginal bleeding (often postcoital)
Multiple sex partners
smoking
starting sex at young age
HIV infection
What type of cancer is invasive cervical CA usually? How can it be prevented? How is it diagnosed? Complications?
Squamous cell CA
Pap smear to catch dysplasia (koilocytes) before it becomes invasive
Colposcopy and biopsy
Lateral invasion can block ureters (renal failure)
What is premature ovarian failure? Presentation? Lab findings?
Premature atresia of ovarian follicles in women of repro age.
Menopause before 40.
Decr. estrogen
incr. LH and FSH
What are the most common causes of anovulation?
pregnancy, PCOS, obesity, HPO axis abnormal, premature ovarian failure, hyperprolactinemia, eating disorders, competitive athletes, cushing syndrome, adrenal insufficiency
What is the pathophys of PCOS? Presentation? Associations? Risks? Treatment?
hyperinsulinemia and/or insulin resistance hypothesized to alter hypothalamic hormonal feedback response
Incr. LH/FSH ratio leads to incr. androgens from theca interna cells, decr. rate of follicular maturation, unruptured follicles (cysts) and anovulation. Subfertility
Enlarged, bilateral cystic ovaries Amenorrhea/oligomenorrhea Hirsuitism acne subfertility
Obesity
Incr. risk of endometrial cancer (unopposed estrogen from anovulatory cycles)
Weight reduction OCPs Clomiphene citrate ketoconazole spironolactone
What is a follicular cyst? Associations? Epid? What is a theca-lutein cyst? Cause? Association?
Distention of unrupture graafian follicle.
Hyperestrogenism, endometrial hyperplasia
Most common ovarian mass in young women
Often bilateral/multiple
Gonadotropin stimulation
ChorioCA and hydatiform moles
Epid of ovarian neoplasms? What cells do they arise from? What do the majority arise from? Which is most common? Risk factors? Types of genetic predisposition? What decreases risk? How does it present? How is it diagnosed? How is progression monitored?
Most common adnexal mass in women > 55
Benign or malignant
Surface epithelium (most common; serous cystadenoCA most common subtype), germ cells, or sex cord stromal tissue.
Risk incr. with age, infertility, endometriosis, PCOS, genetic predisposition (BRCA1 or BRCA2, HNPCC, strong family history)
Risk decr. with previous pregnancy, history of breastfeeding, OCPs, tubal ligation.
Adnexal mass, abdominal distention, bowel obstruction, pleural effusion.
Diagnose surgically
CA 125 levels
Epid of ovarian neoplasms? What cells do they arise from? What do the majority of malignant tumors arise from? Which is most common? Risk factors? Types of genetic predisposition? What decreases risk? How does it present? How is it diagnosed? How is progression monitored?
Most common adnexal mass in women > 55
Benign or malignant
Surface epithelium (most common; serous cystadenoCA most common subtype), germ cells, or sex cord stromal tissue.
Risk incr. with age, infertility, endometriosis, PCOS, genetic predisposition (BRCA1 or BRCA2, HNPCC, strong family history)
Risk decr. with previous pregnancy, history of breastfeeding, OCPs, tubal ligation.
Adnexal mass, abdominal distention, bowel obstruction, pleural effusion.
Diagnose surgically
CA 125 levelscyst
What is a serous cystadenoma like? Epid?
Lined with fallopian tube-like epithelium.
Often bilateral
Most common ovarian tumor.
What is a mucinous cystadenoma like?
multiloculated, large. Lined by mucus secreting epithelium.
What is an endometrioma like? Presentation? What is a chocolate cyst?
Endometriosis within ovary with cyst formation. Presents with pelvic pain, dysmenorrhea, dyspareunia; symptoms vary with cycle.
Chocolate cyst=endometrioma filled with dark, reddish-brown blood.
Complex mass on U/S
What is a mature cystic teratoma like? Origin? Epid? Presentation? What is struma ovarii?
Cystic mass containing elements from all 3 germ layers
Germ cell tumor
most common ovarian tumor in women 20-30
Pain secondary to ovarian enlargment or torsion
Tumor contains functional thyroid tissue leading to hyperthyroidism
What is Brenner tumor? Histo?
Looks like bladder
Solid tumor that is pale yellow-tan and appears encapsulated
Coffee bean nuclei on h&e stain
