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180 Cards in this Set
- Front
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XXY
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Klinefelter's syndrome
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What are the labs seen in Klinefleter's syndrome?
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low testosterone (leydig cell dysfunction), increased FSH (because of dysgenesis of seminiferous tubules (decreases inhibin) so increased FSH), increased LH (because of leydig cell dysfunction (decreased testosterone) so increased LH), increased estrogen (from increased LH)
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What are some characterisitics of someone with Klinefelter's syndrome?
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XXY, testricular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution, may have developmental delay - common cause of hypogoadism in infertility workup
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What is present in Klinefelter's?
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Presence of inactivated X chromosome (barr body)
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What is a common cause of hypogonadism seen in infertility work-up?
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Klinefelter's syndrome (XXY) 1:850 births
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What is the problem in Klinefelter's syndrome?
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XXY
- dysgenesis of seminiferous tubules - decreased inhibin (which normally inhibits FSH) - so high FSH - abnormal leydig cells - no testosterone production - so high LH (causing increased estrogen) |
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What are characterisitcs of turner's syndrome?
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XO - short stature (if left untreated < 5 feet), ovarian dysgenesis (streak ovary), shield chest, bicuspid aortic valve, webbing of neck (cystic hygroma), preductal coarctation of the aorta, most common cause of primary amenorrhea, no barr body
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What are the heart conditions associated with turners syndrome?
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Bicuspid aortic valve, coarctation of the aorta
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What is the most common cause of primary amenorrhea?
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turner's syndrome (XO), no barr body present
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What are the labs on someone with turner's syndrome?
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decreased estrogen levels (streak ovaries), so increased FSH and LH levels
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What happens for turners syndrome to develop? What is the incidence?
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1:3000, from mitotic error after fertilization - mosiacism
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What is the genotype of double Y males? What are characteristics of them?
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XYY, phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1-2% of XYY males), normal fertility!
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What is wrong if there is a high LH level and a high testosterone level?
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defective androgen receptor
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What is wrong if there is a low LH level but a high testosterone level?
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testosterone secreting tumor or steroid use
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What if there is increased LH levels but decreased testosterone level?
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primary hypogonadism (defect with the gonad itself)
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What if there is a decrease in LH levels and a decrease in testosterone level?
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hypogonadotrophic hypogonadism (absent or decreased function of male testes or female ovaries) or problem with pituitary or hypothalamus
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What is psuedohermaphroditism?
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disagreement between the phenotypic (external genitalia) and gonadal (testes vs. ovaries) sex
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What is female pseudohermaphrodite?
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XX
ovaries are present, but external genitalia are virilized or ambiguous. due to excessive and inappropriate exposure to androgenic steroids during early gestation (CAH or exogenous administration of androgens during pregnancy) |
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What is male pseudohermaphrodite?
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XY
testes present but external genitalia are female or ambigous. most common form is androgen insensitivity syndrome (testicular feminization) |
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True hermaphrodite
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46,XX or 47,XXY: both ovary and testicular tissue present; ambiguous genitalia. Very rare
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What is androgen insensitivity disorder?
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defective androgen receptor - individuals are phenotypically female but are 46,XY - have female external genitalia with rudimentry vagina - no uterus, cervix, fallopian tubes or upper 1/3 of vagina (because of anti-mullerian hormone release from sertoli cells of testes), no pubic or under arm hair (because DHT is needed for that), develops testes (has SRY gene on Y chromosome). Has increased testosterone, estrogen, and LH
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What are the labs in someone with androgen insensitivty disorder?
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increased testosterone, estrogen and LH - because the problem is with the androgen receptor
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What are the characteristics of 5a-reductase deficiency?
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"penis at 12"
inability of males to convert testosterone to DHT. ambiguous genitalia until puberty, when increased testosterone causes masculinization/increased growth of external genitalia. Normal levels of testosorone/estrogen; LH is normal or increased. Internal genitalia is normal |
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What are the labs with someone that has 5a-reductase deficiency?
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testosterone/estrogen levels are normal; LH is normal or increased
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What is a hydatidiform mole? What are the 2 types?
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Cystic swellings of chorionic villi and proliferation of chorinoic epithelium (trophoblast) that presents with abnormal vaginal bleeding - most common precursor for choriocarcinoma
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How does hydatiform mole usually present?
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vaginal bleeding - most common precursor for choriocarcinoma
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What is the most common precursor for choriocarcinoma?
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hydatiform mole
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What labs do you see with a hydatiform mole?
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increased hCG - for a complete mole only
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What are some terms used to describe a hydatiform mole?
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honeycomb uterus, cluster of grapes appearance, abnormally enlarged uterus
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What can moles lead to?
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choriocarcinoma or uterine rupture
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How do you treat hydatiform mole?
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dilatation and curettage and methotrexate - monitor B-hCG
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What do complete hydatidiform moles look like?
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snowstorm appearnce with no fetus during 1st sonogram
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What are the 2 hydatidiform moles?
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complete and partial
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What are the characteristics of an complete hydatidiform mole?
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karyotype: 46,XX (46,XY)
hCG: very increased uterine size: increased convert to choriocarcnioma: 2% Fetal parts: NO Components: 2 sperm + empty egg Risk of complication: 15-20% malignant trophoblastic disease |
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What are the characteristics of a partial hydatidiform mole?
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karyotype: 69XXY
hCG: slightly increased uterine size: no change covert to choriocarcinoma: rare Fetal parts: yes (partial = fetal parts) Components: 2 sperm + 1 egg Risk of complications: low risk of malignancy (<5%) |
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What is a common cause of miscarriages that occur during the 1st weeks of pregnancy?
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low progesterone levels (no response to B-hCG
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What is a common cause of miscarriage during the first trimester?
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chromosomal abnormalities (e.g. robertsonian translocation)
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What is a common cause of miscarriage during the second trimester?
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bicornuate uterus (incomplete fusion of paramesonephric ducts)
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What is pregnancy induced hypertension called?
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Pre-eclampsia/eclampsia
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What are signs of Preeclampsia? What is eclampsia?
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hypertension, proteinuria, edema: preeclampsia
Preeclampsia + seizures = eclampsia |
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When does preeclampsia/eclampsia occur?
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Any time between 20 weeks gestation and 6 weeks postpartum (before 20 weeks suggests molar pregnancy)
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Who has an increased risk of developing preclampsia/eclampsia?
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patients with preexisting hypertension, diabetes, chronic renal disease, and autoimmune disorders
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What causes preclampsia/eclampsia?
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placental ischemia due to impaired vasodilatation of spiral arteries, resulting in increased vascular tone
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What can preclampsia/eclampsia be associated with (another condition)?
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HELLP syndrome (hemolysis, elevated LFT's, low platelets)
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What causes mortality in patients with preeclampsia/eclampsia?
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cerebral hemorrhage and ARDS
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What are clinical features of preelampsia/eclampsia?
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headaches, blurred vision, abdominal pain, edema of face and extremities, altered mentation, hyperreflexia; lab findings may include thrombocytopenia and hyperuricemia
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How do you treat preeclampsia/eclampsia?
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delivery of fetus ASAP. Otherwise bed rest, salt restriction, monitoring and treatment of hypertension
treatment: IV magnesium sulfate, diazepam to prevent and treat seizures of eclampsia |
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What drugs are used to treat preeclampsia/eclampsia?
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IV magnesium sulfate and diazepam (to prevent/stop seizures)
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What lab findings might you find in preeclampsia/eclampsia?
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thrombocytopenia, hyperuricemia
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hypertension, proteinuria, edema
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preelampsia (eclampsia if seizures too)
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Abruptio placentae
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premature detachment of placenta from implantation site - fetal death. May be associated with DIC, increased risk if smoker, hypertension or cocaine use
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What puts a person at increased risk of Abruptio placentae?
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smoking, hypertension, cocaine use
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Painful bleeding in third trimester
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abrupt detachment of placenta causing death of fetus
abruptio placentae |
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Placenta accreta
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defective decidual layer allows placenta to attach to myometrium (muscle layer). No separation of placenta after birth. Prior C-section, inflammation, placenta previa predispose
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What predisposes someone to having a placenta accreta?
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Prior C-section, inflammation, placenta previa
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Massive bleeding after delivery
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placenta accreta - placenta is encased in myometrium
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Placenta previa
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attachment of placenta to lower uterine segment. May occlude internal os. Multiparity and prior C-section predispose
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What predisposes someone to a placenta previa?
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multiparity and prior C-section
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Ectopic pregnancy
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fertilization occuring in fallopian tubes - suspect with increased hCG, abdominal pain, confirm with ultrasound. often mistaken for appendicitis
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What gynecologic problem is commonly associated with appendicitis?
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ectopic pregnancy
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painless bleeding at any trimester
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placenta previa
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retained placental tissue
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may cause postpartum hemorrhage
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What are risk factors for ectopic pregnancy?
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history of infertility, salpingitis (PID), ruptured appendix, prior tubal surgery
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Pain with or without vaginal bleeding
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ectopic pregnancy
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polyhydramnios
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problem with baby swallowing - esophageal or duodenal atresia or anencephaly. >1.5-2L of amniotic fluid
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Oligohydramnios
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problem with babies kidneys - placental insufficiency, bilateral renal agensis, posterior urethral valvues (in males). <0.5 L of amniotic fluid
can give rise to potter's syndrome |
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Cells that make up the cervix
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simple squamous epithelium (vagina is made of columnar epithelium)
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dysplasia and carcinoma in situ
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disordered epithelial growth; begins at the squamo-columnar junction and extends outward. Classified as CIN 1, CIN 2, or CIn 3 (carcinoma insitu), depending on extent of dysplsia, associated with HPV 16 and 18. Vaccine available. may progress slowly into invasive carcnioma if left untreated
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How is carcnioma insitu /dysplasia of the cervix classified? What is it caused by?
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CIN 1, CIN 2, CIN 3 - caused by HPV 16 and 18
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What are risk factors for developing dysplasia/carcinoma insitu of the cervix?
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multiple sexual partners, smoking, early sexual intercourse, HIV infection
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koilocytic change can be seen with what?
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HPV infection
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invasive carcinoma of the cervix
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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
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How can kidneys be involved with cervical cancer?
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invasive carcinoma insitu can laterally invade and can block the ureters causing renal failure
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What does HPV viral proteins do to cause disease?
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E6 inhibits p53 and E7 inhibits Rb
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Endometriosis
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non-neoplastic endometrial glands/stroma in abnormal locations outside the uterus - cyclic bleeding (menstrual type) from ectopic endometrial tissue resulting in blood filled "chocolate cysts". in ovary or on peritoneum. maifests as severe menstrual related pain - oftren results in infertility - can be due to retrograde menstrual flow or ascending infection
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cyclic bleeding with "chocolate cysts"
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Endometriosis: chocolate cysts are filled with blood
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Adenomyosis
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endometrium within the myometrium
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What can endometriosis result in?
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clinically severe menstrual related cramps - infertility
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Is endometriosis neoplastic?
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NO!
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Endometrial proliferation 2 types
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Endometrial hyperplasia and endometrial carcinoma
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Endometrial hyperplasia
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Abnormal endometrial gland proliferation usually caused by excess estrogen stimulation. increased risk for endometrial carcinoma - clinically manifests as postmenopausal vaginal bleeding.
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How does endometrial hyperplasia manifest?
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post menopausal vaginal bleeding
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What are the risk factors for developing endometrial hyperplasia?
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onovulatory cycles, hormone replacement therapy, polycystic ovarian syndrome, granulosa cell tumor
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Endometrial carcinoma
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most common gynecologic malignancy. peak occurrence at 55-65 years of age. Clinically presents with vaginal bleeding - preceeded by endometrial hyperplasia
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What are risk factors for endometrial carcinoma?
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prolonged use of estrogen without progestins, obesity, diabetes, hypertension, nulliparity, late menopause. increased myometrial invasion - worse prognosis
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What predicts poor prognosis for endometrial carcinoma?
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increased myometrial invasion
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What is the most common tumor in females?
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leiomyoma (fibroid) - often present with multiple tumors with well-demarcated borders - increased incident in blacks
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What group of women have an increased risk of leiomyomas?
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black women
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What type of tumor is a leiomyoma?
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benign smooth muscle tumor; malignant transformation is rare
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What are leiomyomas senstive to?
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estrogen - tumor size increases with pregnancy and decreases with menopause
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When do leiomyomas usually occur?
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in women 20-40 years of age
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What are symptoms of leiomyomas?
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can be asymptomatic, cause abnormal uterine bleeding, or result in miscarriage (severe bleeding can lead to iron deficiency anemia)
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whorled pattern of smooth muscle bundles
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leiomyoma (fibroid) - cannot progress into leiomyosarcoma!!!
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estrogen sensitive tumor that cannot become malignant
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leiomyoma (fibroid), whorled pattern of smooth muscle bundles!
Increased fibroids during pregnancy - decreased during menopause |
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leiomyosarcoma
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bulky, irregular shaped tumor with areas of necrosis and hemorrhage, typically arising de novo (not from leiomyoma). Increased incidence in blacks. Highly aggressive tumor with tendency to recurr. May protrud e cervix and bleed. Most commonly seen in middle aged women
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Who has an increased risk of developing a leiomyosarcoma?
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black women
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What age group are leiomyosarcomas most commonly seen in?
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middle aged women - the tumors are highly aggressive
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What 3 gynecological tumors occur at the greatest incidence?
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endometrial>ovarian>cervical (in US - worldwide cervical cancer is the most common)
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What 3 gyneocological tumors have the worse prognosis?
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ovarian>cervical>endometrial
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Premature ovarian failure
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premature atresia in ovarian follicles in women of reproductive age. Patients present with signs of menopause after puberty but before age 40
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What are the labs seen in premature ovarian failure?
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decreased estrogen, increase LH and increased FSH
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most common causes of anovulation?
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polycystic ovarian syndrome, obesity, Asherman's syndrome (adhesions), HPO axis abnormalities, permature ovarian failure, hyperprolactinemia, thyroid disorders, eating disorders, Cushing's syndrome, adrenal insufficiency
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polycystic ovarian syndrome (Stein leventhal syndrome)
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increased LH production leads to anovulation - hyperandorgenism due to deranged steroid synthesis by theca cells
enlarged, bilateral cystic ovaries manifest clinically with amenorrhea, infertility, obesity, and hirsutism. Associated with insulin resistance. increased risk of endometrial cancer |
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How do you treat polycystic ovarian syndrome?
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weight loss, OCP's, gonadotropin analogs, clomiphene, or surgery
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People with polycystic ovarian syndrome have an increased risk of what cancer?
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endometrial cancer
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What are the lab values you see in polycystic ovarian syndrome?
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increased testostone, increased LH, decreased FSH
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follicular cyst of the ovary
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distention of unruptured graafian follicle - may be associated with hyperestrinism and endometrial hyperplasia
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corpus luteum cyst of the ovary
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hemorrhage into persistant corpus luteum - usually spontaneously regresses
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theca-lutein cyst of the ovary
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often bilateral/multiple - due to gonadotropin stimulation. associated with choriocarcinoma and hydatidiform mole
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Chocolate cyst of the ovary
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blood containing cyst from ovarian endometriosis - varies with menstrual cycle
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increased LH and androgens - disorder?
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polycystic ovarian syndrome
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cyst that is associated with choriocarcinoma and hydatiform moles?
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theca-lutein cyst of ovary
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What population are ovarian germ cell tumors most common? What are the types?
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adolescents
teratoma, choriocarcinoma, Yolk sac tumor, dysgerminoma |
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Dysgerminoma
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maligant, equlavent to male seminoma but rarer (1% of germ cell tumors in females vs. 30% in males) Sheets of uniform cells
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What is the female ovarian germ cell tumor that is equilavent to the male seminoma?
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Dysgerminoma
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What is the tumor markers for dyserminoma's?
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hCG, LDH
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Choricarcinoma
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rare but malignant; can develop during pregnancy in mother or baby - large hyperchromatic syncytitorphoblastic cells. increasd frequency of theca-lutein cysts - along with moles, compromise spectrum of gestational trophoblastic neoplasm
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large hyperchromatic syncytiotrophoblstic cells tumor marker
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hCG - choriocarcnimoa (ovarian germ cell tumor)
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AFP is a marker for what cancer?
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yolk sac (edodermal sinus) tumor
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Yolk sac (endodermal sinus) tumor
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aggressive malignancy in ovaries (testes in boys) and sacrococcyeal area of young children. Yellow, friable, solid masses. 50% have schiller-duval bodies (resemble glomeruli)
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tumor with yellow, friable, solid masses
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yolk sac (endodermal sinus) tumor
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tumor that 50% of people have Schiller-duval bodies (resemble glomeruli)
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Yolk sac (endodermal sinus) tumor
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What are 90% of ovarian germ cell tumors?
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teratomas - contain cells from 2 or 3 germ layers
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most frequent benign tumor of the ovary
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mature teratoma (dermoid cyst)
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dermoid cyst
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mature teratoma - most common mature tumor of the ovaries
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immature teratoma
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aggressively malignant
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Struma ovarii
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contains functional thyroid tissue. Can present as hyperthyroidism - an ovarian germ cell tumor (teratoma)
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types of ovarian non-germ cell tumors
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Serous (serous cystadenoma, serous cystadenocarcinoma), Mucinous (mucinous cystadenoma, mucinous cystdencarcinoma), Endometroid (brenner tumor), fibromas, granulosa cell tumor, Krukenberg tumor
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Serous cystadenoma
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ovarian non-germ cell tumors
20% of ovarian tumors. frequently bilateral, lined with fallopian tube like epithelium. Benign. |
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CA-125
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increased is a general ovarian cancer marker
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Serous cystadenocarcinoma
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50% of ovarian tumors, malignant and frequently bilateral - risk factors BRCA-1, HNPCC
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what are the risk factors for ovarian tumors?
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BRCA-1, HNPCC
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mucinous cystadenoma
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mulitlocular cyst lined by mucus secreting epithelium. benign. intestine like tumor
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What gyn tumor is intestine like?
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mucinous cystadenoma
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What is the most important risk factor for ovarian cancer?
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family history! Significant genetic predisposition
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mucinous cystadenocarcinoma
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malignant. pseudomyxoma peritonei - intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor
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pseudomyxoma peritonei
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mucinous cystadenocarcinoma of the ovary
Get intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor |
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brenner tumor
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benign... looks like bladder
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fibromas
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bundles of spindle shaped fibroblasts - meigs' syndrome - triad of ovarian fibroma, ascites, hydothroax
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ovarian fibroma, ascites, hydothroax
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meigs' syndrome
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pulling sensation in the groin
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fibromas
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granulosa cell tumor
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secretes estrogen - precocious puberty (kids). can cause endometrial hyperplasia or carcinoma in adults. Call-Exner bodies - small follicles filled with eosinophilic secretions - abnormal uterine bleeding
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Call-Exner bodies
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granulosa cell tumor (small follicles filled with eosinophilic secretions)
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Krukenberg tumor
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GI malignancy that metastasizes to ovaries, causing a mucin secreting signet cell adenocarcinoma
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GI malignancy that spreads to the ovaries - signet cell adenocarcinoma
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Krukenberg tumor
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What are the 4 vaginal cell carcinomas?
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1. Squamous cell carcinoma
2. Clear cell adenocarcinoma 3. Sarcoma bottyoides (rhabdomysarcoma variant) 4. Bartholin's gland cyst |
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Squamous cell carcinoma of the vagina
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secondary to cervical squamous cell carcinoma
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Clear cell adenocarcinoma
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affects women who had exposure to DES in utero
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Sarcoma botryoides (rhabdomyosarcoma varaint)
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affects girls <4 years of age; spindle shaped tumor cells that are desmin positive
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spindle shaped tumor cells that are desmin positive
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sarcoma botryoides (rhabdomyosarcoma variant) - affects girls <4 years of age
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bartholin's gland cyst
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rare - pain in labia majora; can result from previous infection
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fibroadenoma
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benign breast tumor - small mobile, firm mass with sharp edges - most common tumor in those <25, increased size and tenderness with increased estrogen (pregnancy and menstruation) - NOT a precursor to breast cancer
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Intraductal papilloma
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benign breast tumor - small tumor that grows in lactiferous ducts. typically beneath areola - serous or bloody nipple discharge. Slight (1.5-2x) increased risk in carcinoma
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serous or bloody nipple discharge benign tumor
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intraductal papilloma - small tumor that grows in lactiferous ducts
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Phyllodes tumor
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large, bulky mass of connective tissue and cysts. leaf like projections - most common in 6th decade - some may become maligant
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"leaf like" projects of benign tumor
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phyllodes - may become malignant - most common in 6th decade of life
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common breast conditions
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fibrocystic disease, acute mastitis, fat necrosis, gynecomastia
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Fibrocystic disease
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most common cause of breast lumps in women age 25 - menopause. Presents with premenstrual breast pain and multiple lesions, often bilateral - fluctation in size of mass - usually no increase in risk of carcinoma - 4 histologic types
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premenstrual breast pain and multiple lesions - often bilateral - fluctuation in size of mass
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fibrocystic disease of the breast
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What are the 4 histologically different fibrocystic diseases of the breast?
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1) Fibrosis - hyperplasia of breast stroma
2) Cystic - fluid filled, blue dome. ductal dilitation 3) Sclerosing adenosis - increased acni and intralobar fibrosis. associated with calicifications 4) Epithelial hyperplasia - increase in number of epithelial cell layers in terminal duct lobule. increased risk of carcinoma with atypical cells. Occurs in women > 30 years of age |
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fluid filled blue dome
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cystic fibrocystic disease of breast
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Acute mastitis
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Breast abscess; during breast feeing, increased risk of bacterial infection through cracks in the nipple; S. aureus is most common pathogen
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most common pathogen for acute mastitis?
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S. aureus
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fat necrosis of breast
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a benign painless lump; forms as a result to injury to breast tissue. Up to 50% of patients might not report trauma
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benign painless lump; forms as a result to injury to the breast tissue
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fat necrosis of the breast
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gynecomastia
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from hyperestrogenism (cirrhosis, testicular tumor, puberty, old age), Kleinefelter's syndrome, or drugs (estrogen, marijuana, heroin, psychoactive drugs, Spironolactone, Digitalis, Cimetidine, Alcohol, Ketoconazole)
"Some Drugs Create Awesome Knockers" |
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malignant tumors of the breast are most common when?
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postmenopause - arise from mammary duct epithelium or lobular glands - overexpression of estrogen/progesterone receptors or erb-B2 (HER-2 and EGF receptor) is common; affects therapy and prognosis. Axillary lymph node involvement is the single most important prognostic factor
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What is the single best prognostic factor for a woman with breast cancer?
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axillary lymph node involvement
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risk factors for breast cancer
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increased estrogen exposure, increased total number of menstrual cycles, older age at 1st live birth, obesity (adiopose tissue is major source of transforming androstenedione to estrone), women, age, breast cancer in 1st degree relative
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What are the types of breast cancer?
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DCIS (ductal carcinoma insitu), invasive ductal, invasive lobular, medullary, comedocarcinoma, inflammatory, paget's disease
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DCIS
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ductal carcinoma insitu - fills ductal lumen. arises from ductal hyperplasia (early malignancy without basement membrane penetration)
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Invasive ductal
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Firm, fibrous, rock hard mass with sharp margins and small glandular duct like cellls - WORSE and most invasive (most common - 76% breast cancer)
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What is the worst and most invasive breast cancer?
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invasive ductal - most common too 76% of breast cancers
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invasive lobular breast cancer
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orderly row of cells - often multiple, bilateral
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medullary breast cancer
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fleshy, cellular, lymphatic infiltrate - good prognosis
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comedocarcinoma
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ductal, caseous necrosis, subtype of DCIS
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What breast cancer is a subtype of DCIS?
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comedocarcinoma
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Inflammatory breast cancer
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dermal lymphatic invasion by breast carcinoma, Peau d'orange (breast skin resembles orange peel)
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Paget's disease of breast
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eczematous patches on nipple - paget cells = large cells in epdermis with clear halo
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large cells in epidermis with clear halo
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Paget's disease of breast
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