Reproductive - FA Patho p624 - 639 Flashcards
tall, long extremities, gynecomastia, female hair distribution
Klinefelter syndrome
Which sex chr disorder will have presence of inactive Barr body?
Klinefelter syndrome
Which hormones are inc in both Klinefelter’s and Turners?
Both FSH and LH
Klinefelter -
Dysgenesis of seminiferous tubules --\> dec inhibin B --\> inc FSH Abnormal leydig (dec testosterone = inc LH, inc estrogen)
Turners - dec estrogen –> inc LH, FSH
What are sx of Turners?
- Short stature (if untreated; preventable with growth hormone therapy)
- ovarian dysgenesis (streak ovary),
- shield chest
- bicuspid aortic valve, coarctation (femoral < brachial pulse),
- lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feet, hands),
- horseshoe kidney,
- high-arched palate,
- shortened 4th metacarpals.
How is the sex chromosome lost in Turner?
nondisjunction during meiosis or mitosis.
Explain the meiosis and mitosis errors that can happen in Turner
Meiosis errors usually occur in paternal gametes –> sperm missing the sex chromosome.
Mitosis errors occur after zygote formation –> loss of sex chromosome in some but not all cells –> mosaic karyotype (eg. 45,X/46XX). (45,X/46,XY)
How is pregnancy possible in Turners?
Pregnancy is possible in some cases (IVF, exogenous estradiol-17β and progesterone).
Which disease is assoc with cystic hygroma?
Turner’s (lymph defects)
What sexual chr disorder can present with dec femoral pulse vs brachial?
Turners - due to coractation.
May be associated with severe acne, learning disability, autism spectrum disorders.
Double Y males
Both ovarian and testicular tissue present (ovotestis); More likely to be xx or xy?
46,XX > 46,XY.
in primary hypogonadism what will be the testosterone, LH level?
low test, high LH
in testosterone secreting tumor, what will be the testosterone, LH lever?
high testosterone, low LH
in defective androgen receptor, what will be testosterone, LH level?
high test, high LH
Sx of 46, XX DSD and cause?
Ovaries present, but external genitalia are virilized or ambiguous.
Due to excessive and inappropriate exposure to androgenic steroids during early gestation (eg, congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy).
46, XY DSD sx and most common cause?
Testes present, but external genitalia are female or ambiguous.
Most common form is androgen insensitivity syndrome (testicular feminization).
dx? masculinized female infant (46, XX), mother had inc serum testosterone and hirsutism
Placental aromatase def
Why does pregnant mother with placental aromatase def present with virilization?
Fetal androgens cross the placenta
Normal appearing female, female ext genetalia but minimal axillary and pubic hair, blind sac vagina with no uterus and fallopian tubes
Androgen insensitivity syndrome, defect in androgen receptor.
In Androgen Insensitivity syndrome, if some one has normal functioning testes, where found and what to do?
labia majora, removed surgically to (-) malignancy
dx? no prostate, normal testosterone/estrogen, internal genitalia normal, but ambiguous external genitalia, 46 XY
5 alpha reductase def
in 5 alpha reductase def, why do you see ambiguous external genitalia and no prostate?
b/c DHT made from testosterone by 5 alpha reductase converts genital tubercle, urogenital sinus into male external genitalia, prostate
Hormone levels in 5α-reductase deficiency
Testosterone/estrogen levels are normal; LH is normal or inc.
Kallman syndrome - underlying defect
Defective migration of GnRH-releasing neurons and subsequent failure of olfactory bulbs to develop –> dec synthesis of GnRH in the hypothalamus; hyposmia/anosmia;
Hormone levels in Kallman
DEC GnRH, FSH, LH, testosterone.
Sudden painful bleeding in 3rd trimester
Premature seperation of placenta (partial or complete) from uterine wall before delivery - Abruptio placentae
Causes of Abruptio Placentae
trauma (eg, motor vehicle accident), smoking, hypertension, preeclampsia, cocaine abuse.
pathology associated with defective decidual layer? types?
Morbidly adherent placenta - abnormal attachment and separation after delivery.
placenta Accreta (Attaches to myometrium w/o penetrating)
placenta Increta - placenta penetrates into myometrium.
placenta Percreta - placenta penetrates (“perforates”) through myometrium and into uterine serosa (invades entire uterine wall
complication of placenta accreta/increta/percreta?
Sheehan syndrome
presentations of placenta accreta/increta/percreta?
often detected on ultrasound prior to delivery no separation of placenta after delivery –> postpartum bleeding
Where does placenta normally form and attach?
upper pole of uterus
attachment of placenta to lower uterine segment?
placenta previa
What is placenta previa? major sx?
Attachment of placenta to lower uterine segment over (or < 2 cm from) internal cervical os.
Sx/ painless 2rd trimester bleeding
dx? membrane rupture, painless vaginal bleeding, fetal bradycardia (less than 110/min),
Vasa previa
Vasa previa often assoc with velamentous umbilical cord insertion - what is that?
cord inserts in chorioamniotic membrane rather than placenta –> fetal vessels travel to placenta unprotected by Wharton jelly
Most common causes of post partum hemorrhage
Tone (uterine atony; most common), Trauma (lacerations, incisions, uterine rupture), Thrombin (coagulopathy), Tissue (retained products of conception).
most common location of the ectopic preg?
ampulla of fallopian tube
level of hCG in ectopic preg?
lower than expected rise based on dates
Risk factors for ectopic preg?
- Prior ectopic pregnancy
- History of infertility
- Salpingitis (PID)
- Ruptured appendix
- Prior tubal surgery
- Smoking
- Advanced maternal age
Causes of polyhydramnios
associated with fetal malformations (eg, esophageal/duodenal atresia, anencephaly; both result in inability to swallow amniotic fluid), maternal diabetes, fetal anemia, multiple gestations.
3 causes for oligohydromnios
placental insufficiency, bilateral renal agenesis, post urethral valves
dx? honeycombed uterus, hyperemesis, hyperthyroidism, pre-eclampsia before 24 weeks
complete hydatidiform mole
Which type of hydatidiform mole is maternal vs paternal ? Components?
Complete - paternal. Enucleated egg and 1 single sperm that duplicates paternal DNA
Partial - maternal expressed, 2 sperm + 1 egg
hcg levels and p57 protein staining for complete vs partial mole
Hcg VERY high for complete mole, inc for partial mole
No P57 protein in complete mole
which tumor has inc beta hCG?
choriocarcinoma
2 diagnosis criteria for gestational hypertension?
BP>140/90 after 20th wk of gestation
Tx of Gestational hypertension?
alpha methyl dopa, labetalol, hydralazine, nifedipine
diagnosis criteria for preeclampsia
new onset of HTN with either proteinuria or end organ dysfunction after 20th wk of gestation
pathophysio of preeclampsia?
abnormal placental spiral arteries –> endothelial dysfunction –> vasoconstriction, ichemia
6 complications of preeclampsia?
- placental abruption,
- coagulopathy,
- renal failure,
- pulmonary edema,
- uteroplacental insufficiency;
- may lead to eclampsia (+ seizures) and/or HELLP syndrome.
Tx of Preeclampsia?
Same anti-HTN as gest. HTN,
IV magnesium sulfate to prevent seizure
deliver the fetus
definition of eclampsia?
preeclampsia + maternal seizures
what is the manifestation of severe preeclampsia?
HELLP syndrome = Hemolysis + Elevated Liver enzymes + Low Platelets
what is the complication of HELLP?
DIC and hepatic subcapsular hematomas –> rupture –> severe hypotension
thin off white discharge, fishy odor, no vaginal inflammation? Clue cells POS whiff test?
Bact Vaginosis - give Metro
thin yellow green discharge, mal odor, frothy discharge w. vaginal inflammation
Trichomoniasis - give Metro
thick white cottage cheese like discharge, Norm pH, pseudohyphae
Candida vaginitis - give Fluconazole
Bartholin cyst, what is it? - assoc w. which infection
Due to blockage of Bartholin gland duct causing accumulation of gland fluid. May lead to abscess 2° to obstruction and inflammation - N. gonorrhoeae
porcelain white plaques on vulva with red/violet border - what is it? inc risk for what malignancy?
Lichen sclerosus, thinning of epidermis with fibrosis of dermis. Inc risk for SCC
Lichen simplex chronicus - what is it? cause?
Hyperplasia of vulvar squamous epithelium. Presents with leathery, thick vulvar skin with enhanced skin markings due to chronic rubbing or scratching
clear grape like polypoid mass emerging from vagina, spidle shaped cells, desmin pos - what is it? pt pop’n?
Sarcoma botryoides - girls <4 yrs old. Embryonal rhabdomyosarcoma variant
Two types of vulvar carcinoma - source? age of pt pop’n?
HPV-related vulvar carcinoma—associated with high-risk HPV types 16, 18. Risk factors: multiple partners, early coitarche. Usually in reproductive-age females.
Non-HPV vulvar carcinoma—usually from long-standing lichen sclerosus. Females > 70 years old
Where does cervical dysplasia begin?
basal layer of squamocolumnar junction (transformation zone) and extends outward.
Cervical dysplasia is associated with which virus and what are its gene products.
Associated with HPV-16 and HPV-18, which produce both the E6 gene product (inhibits TP53) and E7 gene product (inhibits pRb) (6 before 7; P before R).
What types of cells are seen with HPV
Koilocytes
Presentation and risk factors of CIN
either asymp and seen on Pap smear, or as post coital vaginal bleeding
Risk factors: multiple sexual partners (#1), smoking, early coitarche, DES exposure, immunocompromise (eg, HIV, transplant).
what is the consequence of invasive carcinoma of the cervical cancer?
lateral invasion can block ureters –> hydronephrosis –> renal failure
define Primary ovarian insufficiency
premature atresia of ovarian follicles in women of reproductive age. pts present with signs of menopause after puberty but before age 40
12 most common causes of anovulation
- pregnancy
- polycystic ovarian syndrome
- obesity
- HPO axis abnormalities
- premature ovarian failure
- hyperprolactinemia
- thyroid disorders
- eating disorders
- competitive athletics
- cushing
- adrenal insufficiency
- chromosomal abnormalities
what malignancy is associated with PCOS?
inc risk for 2’ endometrial cancer due to unopposed estrogen from repeated anovulatory cycles
6 treatments for PCOS?
- weight loss 2. OCPs 3. clomiphene citrate (GnRH agonist) 4. spironolactone 5. finasteride 6. flutamide
what cyst is due to distention of unruptured graafian follicle?
follicular cyst
most common ovarian mass in women?
follicular cyst
what kind of cyst is associated with gonadotropine stimulation?
theca lutein cyst
Follicular cyst is associated wtih
hyperestrogenism, endometrial hyperplasia
Theca Lutein cysts forms due to ? Assoc w/ which pathologies?
Due to gonadotropin stimulation. Associated with choriocarcinoma and hydatidiform moles.
what two paths are associated with theca lutein cyst?
choriocarcinoma, hydatidiform moles
is CA 125 good for screening ovarian cancer?
No, it is just good for monitoring process.
name 4 conditions that dec ovarian cancer risk?
- previous pregnancy 2. hx of brestfeeding 3. OCPs 4. tubal ligation
Most common ovarian neoplasm
Serous cystadenoma - benign, bilateral with fallopian like epith
another name for mature cystic teratoma?
dermoid cyst
Most common ovarian tumors in females 10-30 yrs old - describe it?
Mature cystic teratoma, dermoid cyst
has all 3 germ cell layers, - teeth, hair sebum.
What type of benign reproductive tumor is seen in females with hypothyroidism ( rare)
Struma ovarii - monodermal form of dermoid cyst, has thyroid tissue
what is Meigs syndrome and what tumor is associated with it?
—triad of ovarian fibroma, ascites, pleural effusion
Benign tumor that resembles bladder epith? histological sign?
Brenner tumor, solid tumor that is pale yellow-tan and appears encapsulated. Coffee bean nuclei on H&E stain
what is like a granulosa cell tumor that presents as abnormal uterine bleeding in post menopausal woman,
thecoma - may produce estrogen,
What do you see histologically with the most common ovarian neoplasm?
Serous cystadenocarcinoma - psammoma bodies
Adolescent patient, sheets of fried egg cells - what tumor and which markers?
Dysgerminoma; hcg and LDH
what tumor is associated with sacrococcygeal area in young child?
Yolk sac (endodermal tumor)
what path is associated with Schiller Duval bodies?
Yolk sac (endodermal sinus) tumor
Malignant female reproductive tumor with Call Exner bodies - what are they?
Call-Exner bodies (granulosa cells arranged haphazardly around collections of eosinophilic fluid, resembling primordial follicles - Granulosa Cell tumor
most common malignant stromal tumor in female?
granulosa cell tumor
Presentation of Granulosa Cell tumor?
Predominantly women in their 50s. Often produces estrogen and/or progesterone and presents with postmenopausal bleeding, endometrial hyperplasia, sexual precocity (in pre-adolescents), breast tenderness
most common ovarian tumors?
serous cystadenocarcinoma
what is struma ovarri?
functional thyroid tissue with hyperthyrodism from mature cystic teratoma
GI malignancy that metastasizes to ovaries - what type ?
Krukenberg tumor - mucin secreting signet cell adenocarcinoma
tumor dx? dysmenorrhea, menorrhagia, uniformly enlarged soft globular uterus
adenomyosis
What is adenomyosis?
Extension of endometrial tissue (glandular) into uterine myometrium. Caused by hyperplasia of basal layer of endometrium
treatment for adenomyosis?
GnRH agonist, hysterectomy
Adhesion or fibrosis of endometrium is called ? assoc w.?
Asherman syndrome, assoc with D&C of intrauterine cavity.
Leiomyoma - what pt population? affected by what hormone?
benign smooth m tumor, sensitive to estrogen (inc size in pregnancy and dec with menopause) Inc in African americans, and peak occurence in women 20-40 yrs old
How does leiomyoma present? look like histologically?
Could be asymp, cause AUB, or result in miscarriage
Severe bleeding –> Fe def anemia
Whorled pattern of smooth muscle bundles with well-demarcated borders B.
Endometrial hyperplasia cause by? when is risk for cancer inc?
excess estrogen stimulation
inc risk for endometrial carcinoma, esp when nuclear atypia.
Two types of endometrial carcinoma? - which is more common? histo of each?
Endometrioid—most common. Associated with unopposed estrogen exposure and endometrial hyperplasia, usually in perimenopausal women. Histology shows abnormally arranged endometrial glands.
Serous—associated with endometrial atrophy in postmenopausal women. Aggressive. Characterized by formation of papillae and tufts. .
The two types of endometrial carcinoma are assoc with which gene issues?
Endometrioid - loss of PTEN or mismatch repair genes
Serous - TP53 mutations common
Tx for Endometritis
Gentamicin + Clindamycin +/- Ampicillin
what is endometrioma?
endometriosis (ectopic endometrial tissue)
what endometrial condition is associated with dyschezia (pain with defecation)?
endometriosis
2 female paths associated with chocolate cyst
endometrioma, endometriosis
6 treatments for endometriosis?
- NSAIDs 2. OCPs 3. progestins 4. GnRH agonist 5. danazol 6. laparoscopic removal
the order of the worst prognosis of obgyn tumors
ovarian > cervical > endometrial
Which lobes are involved in BPH?
periurethral (lateral and middle) lobes, which compress the urethra into a vertical slit
Pt with hx of MI presents with dysuria and found to have smooth, elastic, firm nodular enlargement of the periurethral area. What medication is C/I in this pt for his BPH? why?
tadalafil –> MI pt might use nitroglycerin –> sever hypotention
Pt with HTN and BPH can benefit from which tx?
α1-antagonists —> -zosin
Diff. btw prostatitis and BPH?
prostatitis has low back pain, prostate feels warm, tender, and enlarged. (hypertrophy)
Location of prostate ca?
posterior lobe, peripheral zone
definite dx of prostate ca?
needle core biopsies
Male Pt is his 70s presents with lower back pain. Looking at the x-ray, physician finds this: (look at x-ray). Which lab values do u expect to be elevated?
total PSA, with dcr fraction of free PSA serum ALP and PSA.
Which GnRH analog can tx prostate ca and infertility? How is it administered in each case?
Leuprolide continuous fashion –> p. ca pulsatile –> infertility
Prostate ca spreads to which plexus?
batson’s plexus
2 conditions associated with female pseudo hermaphrodite?
congenital adrenal hyperplasia, exogenous administration of androgens during pregnancy
