Female patho 0514FA Flashcards
1
Q
Klinefelter XXY
A
testicular atrophy, small and firm. eunuchoid body shape. TALL with long extremities. gynecomastia. female hair distribution. decreased muscle mass.
*Barr body (inactivated X chromo).
2
Q
when does Klinefelter present?
A
in puberty…
common cause of hypogonadism in infertility workup.
3
Q
is there developmental delay assoc with Klinefelter?
A
maybe…. most have normal intelligence.
increased risk and severity of MR with each additional X chromo.
4
Q
cause of Klinefelter
A
meiotic nondisjunction in gametogenesis
5
Q
hormones in Klinefelter
A
dysgenesis of seminiferous tubules = decreased inhibin = INCREASED FSH.
abnormal Leydig function = decreased testosterone = INCREASED LH = INCREASED ESTROGEN.
6
Q
Turner XO
A
short stature. ovarian dysgenesis (streak ovary). infertility. broad shield chest. widely spaced nipples.
7
Q
heart findings in Turner
A
bicuspid aortic valve.
preductal coarctation of aorta.
aortic dissection (adults).
8
Q
lymphatic defects in Turner
A
webbing of neck (cystic hygroma).
lymphedema in feet, hands.
low posterior hairline.
9
Q
what renal anomaly is common in Turner?
A
horseshoe kidney
10
Q
what ovarian tumor is common in Turner?
A
dysgerminoma
11
Q
Turner is the most common cause of…?
A
primary amenorrhea - due to ovarian failure.
menopause before menarche. no breast development.
12
Q
hormones in Turner
A
decreased estrogen = increased LH, FSH
13
Q
double Y males XYY
A
phenotypically normal. very TALL. severe acne. antisocial behavior. normal fertility. small % diagnosed with autism spectrum d/o.
14
Q
hormone levels when androgen receptor is defective
A
increase T. increase LH (sense low T).
15
Q
hormone levels with testosterone-secreting tumor or exogenous steroids
A
increase T.
decrease LH.
16
Q
hormone levels with primary hypogonadism
A
decrease T.
increase LH.
17
Q
hormone levels with hypogonadotropic hypogonadism
A
decrease T.
decrease LH.
18
Q
female pseudohermaphrodite XX
A
ovaries present.
external genitalia virilized or ambiguous.
due to:
excessive and inappropriate exposure to androgenic steroids during early gestation, i.e. CAH or exogenous androgens
19
Q
male pseudohermaphrodite XY
A
testes present.
external genitalia are female or ambiguous.
most commonly due to:
androgen insensitivity syndrome (testicular feminization)
20
Q
true hermaphroditism
A
46XX or 47XXY.
both ovary and testicular tissue present (ovotestis).
ambiguous external genitalia.
very rare.
21
Q
androgen insensitivity syndrome
A
46XY.
defect in androgen receptor results in normal-appearing female…. female external genitalia. rudimentary vagina. no sexual hair.
22
Q
why are uterus and uterine tubes absent in AIS?
A
AMH is still present
23
Q
development of testes in AIS?
A
yes - often found in labia majora. surgically remove to prevent malignancy.
24
Q
hormones in AIS
A
increased testosterone, estrogen, LH.
25
5 alpha reductase deficiency
auto recessive.
limited to genetic males.
inability to convert testosterone to DHT.
normal internal genitalia.
26
presentation of 5 alpha reductase deficiency
ambiguous genitalia until puberty (increased T causes masculinization and growth of external genitalia) - "penis at 12"
27
hormones in 5 alpha reductase deficiency
normal testosterone/estrogen.
| normal or increased LH.
28
why is internal genitalia normal in 5 alpha reductase deficiency?
internal genitalia depends on testosterone, which is normal.
*external genitalia depends on DHT.
29
Kallmann syndrome
defective development of GnRH cells and olfactory placode - failure of GnRH secreting neurons to migrate from olfactory lobes to hypothalamus
30
presentation of Kallmann syndrome
AUTO DOM.
anosmia.
lack of secondary sex characteristics.
31
hormones in Kallmann syndrome
decreased synthesis of GnRH in hypothalamus.......
decrease GnRH.
decrease FSH, LH.
decrease testosterone.
decrease sperm count.
32
hydatidiform mole
growth of abnormal placental tissue.
| cystic swelling of chorionic villi and proliferation of chorionic epithelium (trophoblast).
33
presentation of hydatidiform mole
abnormal vag bleeding.
abnormally enlarged, honey comb uterus.
CLUSTER OF GRAPES.
may lead to uterine rupture.
34
what hormone is elevated in hydatidiform mole?
beta-hCG
35
what is the common complication of hydatidiform mole, even after removal?
choriocarcinoma - monitor beta-hCG.
36
appearance of complete hydatidiform mole on 1st sonogram
SNOWSTORM with no fetus
37
TX of hydatidiform mole
dilatation and curettage.
| methotrexate.
38
complete hydatidiform mole
1. empty ovum with 2 sperm (46 chromos, all from dad).
2. no fetal parts, completely molar.
3. most villi are hydropic (edematous).
4. trophoblast proliferation is diffuse and around entire villi.
5. more significant risk for choriocarcinoma (2-3%).
6. huge increase in beta-hCG.
39
partial hydatidiform mole
1. normal ovum with 2 sperm (69 chromos).
2. fetal parts present.
3. only some villi are hydropic, others normal.
4. focal proliferation of trophoblasts on villi.
5. rare risk for choriocarcinoma.
6. moderate increase in beta-hCG.
40
components of preeclampsia
1. HTN
2. proteinuria
3. edema
41
eclampsia
preeclampsia + seizures
42
preeclampsia before 20 wks suggests?
molar preg
43
increased incidence of preeclampsia in...
pts with preexisting HTN.
diabetes.
chronic renal disease.
autoimmune d/o.
44
cause of preeclampsia
PLACENTAL ISCHEMIA due to impaired vasodilation of spiral aa, resulting in increased vascular tone
45
HELLP syndrome
hepatic thrombotic microangiopathy assoc with preeclampsia.
Hemolysis.
Elevated LFTs.
Low Platelets.
46
cause of mortality in preeclampsia
cerebral hemorrhage and ARDS
47
SX of preeclampsia
```
headache, blurred vision (severe HTN).
abd pain.
edema of face, extremities.
altered mentation.
hyperreflexia.
```
48
LABS in preeclampsia
thrombocytopenia.
| hyperuricemia.
49
TX of preeclampsia
deliver fetus ASAP.
until then, bed rest, salt restriction, monitor/treat HTN.
50
TX of eclampsia seizures
IV magnesium sulfate + diazepam (prevention AND treatment)
51
abruptio placentae (placental abruption)
premature detachment of placenta from implantation site (decidua).
results in fetal demise.
52
abruptio placentae is assoc with...?
DIC
53
increased risk of abruptio placentae with...?
smoking.
HTN.
cocaine use.
(poor placental perfusion)
54
presentation of abruptio placentae
PAINFUL bleeding in 3rd tri.
| abrupt detachment and death.
55
placenta accreta
Accreta = Abn Attachment.
defective decidual layer allows placenta to attach to MYOMETRIUM.
56
increased risk of placenta accreta with...?
prior C-section.
inflammation.
placenta previa.
57
presentation of placenta accreta
massive bleeding after delivery.
| placenta is STUCK - no separation after birth.
58
placenta previa
attachment of placenta to lower uterine segment. may occlude internal os.
59
increased risk of placenta previa with...?
prior C-section.
| multiparity.
60
presentation of placenta previa
PAINLESS bleeding in any tri.
61
where is ectopic pregnancy most often located?
fallopian tube
62
suspect ectopic pregnancy when...?
hx of amenorrhea.
sudden lower abd pain.
increased hCG.
with or without bleeding.
63
ectopic pregnancy often mistaken for?
appendicitis
64
confirm ectopic pregnancy with?
ultrasound
65
endometrial bx of ectopic pregnancy
decidualized endometrium
but no chorionic villi.
*chorionic villi only develop in intrauterine preg
66
RF for ectopic pregnancy
```
*scarring*
h/o of infertility.
salpingitis (PID).
ruptured appendix.
prior tubal surgery.
```
67
what can retained placental tissue cause?
postpartum hemorrhage
68
polyhydramnios
> 1.5-2 L amn fluid.
1. anencephaly.
2. esophageal/duodenal atresia: inability to swallow amn fluid.
69
oligohydramnios
< 0.5 L amn fluid.
1. placental insuff.
2. bilateral renal agenesis.
3. posterior urethral valves (males).
* due to fetal inability to excrete urine.
* can give rise to Potter syndrome.
70
cervical dysplasia and CIN
disordered epith growth.
begins at basal layer of squamo-columnar junction and extends outward.
classified as CIN 1-3.
CIN 3 = CIS.
may slowly progress to invasive carcinoma if left untreated.
71
HPV and cervical dyplasia
HPV 16, 18.
| vaccine available.
72
E6 of HPV 16
E6 gene product inhibits p53 suppressor gene
73
E7 of HPV 18
E7 gene product inhibits RB suppressor gene
74
RFs for cervical dysplasia
1. multiple sex partners*
2. smoking
3. early sexual intercourse
4. HIV infx
75
invasive cervical carcinoma
often SQUAMOUS CELL.
| lateral invasion can block ureters (hydronephrosis) and cause renal failure.
76
what can catch cervical dysplasia before it progresses to invasive carcinoma?
PAP SMEAR - koilocytes
77
koilocytes
dense, irregularly staining cytoplasm with perinuclear halo.
wrinkled RAISINOID nucleus.
sign of HPV infx.
78
endometritis
inflamm of endometrium due to retained products of conception OR foreign body (ex: IUD)
79
how do retained products cause endometritis?
promote infection by bacterial flora from vagina or intestinal tract
80
presentation of endometritis
```
abd pain.
fever.
uterine tenderness.
menstrual abn.
infertility.
```
81
TX of endometritis
cefoxitin.
ticarcillin-clavulanate.
ampicillin-sulbactam.
82
endometriosis
non-neoplastic endometrial glands/stroma in abn locations outside of uterus
83
endometriosis SX
```
CYCLIC bleeding (menstrual-like).
blood-filled CHOCOLATE CYSTS (ovary or peritoneum).
```
```
menorrhagia.
dysmenorrhea: severe menstrual-related pain.
dyspareunia: painful intercourse.
infertility.
NORMAL SIZED uterus.
```
84
cause of endometriosis
retrograde menstrual flow
85
TX of endometriosis
danazol (synthetic androgen)
86
adenomyosis
endometrium within myometrium
87
TX of adenomyosis
hysterectomy
88
SX of adenomyosis
menorrhagia.
dysmenorrhea.
pelvic pain.
ENLARGED UTERUS.
89
endometrial hyperplasia
abn gland proliferation caused by EXCESS ESTROGEN stimulation.
increased risk for endometrial carcinoma.
90
endometrial hyperplasia manifests as...?
postmenopausal vag bleeding
91
RF for endometrial hyperplasia
anovulatory cycles.
hormone replacement.
polycystic ovarian syndrome.
granulosa cell tumor.
92
endometrial carcinoma
preceded by endometrial hyperplasia.
| peak years 55-65 yo.
93
what is the most common gynecologic malignancy?
endometrial carcinoma
94
presentation of endometrial carcinoma
vag bleeding
95
RF for endometrial carcinoma
```
prolonged use of estrogens w/out progestins.
obesity.
diabetes.
HTN.
nulliparity.
late menopause.
```
96
what worsens prognosis of endometrial carcinoma?
myometrial invasion
97
leiomyoma (fibroid)
myometrial tumor.
benign smooth muscle.
often presents with multiple tumors.
well-demarcated borders.
98
what is the most common tumor in all females?
leiomyoma (fibroid)
99
what population has increased leiomyoma (fibroid)?
blacks
100
peak occurrence of leiomyoma (fibroid)
age 20-40
101
leiomyoma (fibroid) sensitive to what hormone?
estrogen - increased tumor size with pregnancy, decreased with menopause
102
presentation of leiomyoma (fibroid)
asymptomatic.
or abn uterine bleeding.
or result in miscarriage.
103
severe bleeding with leiomyoma (fibroid) can result in...?
iron deficiency anemia
104
histo of leiomyoma (fibroid)
whorled pattern of smooth muscle bundles
105
prognosis with leiomyoma (fibroid)
rare malignant transformation.
| does not progress to leiomyosarcoma.
106
leiomyosarcoma
bulky, irregular tumor with areas of necrosis and hemorrhage.
highly aggressive.
tend to recur.
can protrude from cervix and BLEED.
107
where does leiomyosarcoma arise from?
DE NOVO
108
what population has increased leiomyosarcoma??
blacks.
| middle-aged women.
109
gyn tumor incidence
endo > ovarian > cervical.
BUT, prognosis:
ovarian > cervical > endo
110
premature ovarian failure
premature atresia of ovarian follicles in women of repro age.
present with signs of menopause after puberty but before age 40.
111
hormones in premature ovarian failure
decrease estrogen.
| increase LH, FSH.
112
polycystic ovarian syndrome (POS)
enlarged, bilateral cystic ovaries.
| increased LH prod leads to anovulation.
113
what causes hyperandrogenism in POS?
deranged (increased) steroid synthesis by theca cells
114
POS presentation
```
amenorrhea.
infertility.
obesity.
hirsutism.
acne.
```
115
POS has increased risk for which cancer?
ENDOMETRIAL, secondary to increased estrogens from aromatization of testosterone in FAT CELLS
116
RF for POS
insulin resistance.
DM type 2.
abn lipid profile with CAD, atherosclerosis.
117
hormones in POS
increased LH.
decreased FSH.
increased testosterone.
increased estrogen (from aromatization).
118
TX of POS
weight reduction.
low dose OCP or medroxyprogesterone to decrease LH and androgenesis.
spironolactone to treat acne, hirsutism.
clomiphene for women who want to get pregnant.
119
follicular cyst
ovarian cyst.
distention of unruptured graafian follicle.
assoc with hyperestrinism and endometrial hyperplasia.
120
corpus luteum cyst
ovarian cyst.
hemorrhage into persistent corpus.
regress spontaneously.
121
theca-lutein cyst
ovarian cyst.
often bilateral, multiple.
due to gonadotropin stim.
assoc with choriocarcinoma and moles.
122
hemorrhagic cyst
ovarian cyst.
blood vessel rupture in cyst wall.
cyst grows with blood retention.
usually self-resolves.
123
dermoid cyst
ovarian cyst.
mature teratoma.
cystic growths filled with various types of tissue - hair, teeth, fat, bone, cartilage.
124
endometrioid cyst
ovarian cyst.
endometriosis w/in ovary with cyst formation.
varies with menstrual cycle.
"chocolate cyst" if filled with dark, reddish-brown blood.
125
most common ovarian mass in young women
follicular cyst
126
ovarian germ cell tumors
1. dysgerminoma.
2. choriocarcinoma.
3. yolk sac (endodermal sinus) tumor.
4. teratoma.
127
what population are ovarian germ cell tumors most common in?
adolescents
128
dysgerminoma
ovarian germ cell tumor.
malignant.
sheets of uniform cells.
129
male equivalent of dysgerminoma
seminoma
*but dysgerminoma is more rare
130
dysgerminoma is assoc. with what disorder?
Turner syndrome
131
tumor markers of dysgerminoma
hCG.
| LDH.
132
choriocarcinoma
```
ovarian germ cell tumor.
rare but malignant.
TROPHOBLASTIC TISSUE.
no chorionic villi present.
can develop during preg in MOM or BABY.
```
133
which tumors are considered part of gestational trophoblastic neoplasia?
choriocarcinoma.
| moles.
134
choriocarcinoma assoc. with increased freq of what kind of cysts?
theca-lutein
135
choriocarcinoma spreads where?
early hematogenous spread to LUNGS
136
tumor markers of choriocarcinoma
hCG
137
yolk sac (endodermal sinus) tumor
ovarian germ cell tumor.
| aggressive malignancy in ovaries and sacrococcygeal area of young kids.
138
appearance of yolk sac tumor
yellow friable solid mass.
| 50% have SCHILLER-DUVAL BODIES (resemble glomeruli)
139
where are yolk sac tumors in boys?
testes
140
tumor markers in yolk sac tumor
AFP
141
teratoma
90% of ovarian germ cell tumors.
mostly benign.
contains cells from 2-3 germ layers.
142
mature teratoma
aka DERMOID CYST.
| most frequent benign ovarian germ cell tumor.
143
immature teratoma
aggressively malignant
144
struma ovarii
contains functional THYROID tissue - may present as hyperthyroidism
145
components of teratoma
```
skin
hair
bone
cartilage
gut
thyroid
```
146
serous cystadenoma
surface epithelial tumor.
ovarian non-germ cell tumor.
benign. often bilateral.
lined with fallopian tubey cells.
147
serous cystadenocarcinoma
surface epithelial tumor.
ovarian non-germ cell tumor.
malignant. often bilateral.
PSAMMOMA BODIES.
148
mucinous cystadenoma
surface epithelial tumor.
ovarian non-germ cell tumor.
benign multilocular cyst lined by mucus-secreting epith.
INTESTINE-LIKE TISSUE.
149
mucinous cystadenocarcinoma
surface epithelial tumor.
ovarian non-germ cell tumor.
malignant.
150
pseudomyxoma peritonei
intraperitoneal accum of mucinous material from ovarian (mucinous cystadenocarcinoma) or appendiceal tumor
151
Brenner tumor
```
surface epithelial tumor.
ovarian non-germ cell tumor.
benign. UNILATERAL.
looks like BLADDER.
pale yellow-tan solid tumor.
looks encapsulated.
COFFEE BEAN NUCLEI.
```
152
fibroma
sex cord stromal tumor.
ovarian non-germ cell tumor.
bundles of SPINDLE-SHAPED FIBROBLASTS.
153
Meig's syndrome
TRIAD
1. ovarian fibroma.
2. ascites.
3. hydrothorax.
*pulling sensation in groin
154
granulosa cell tumor
```
sex cord stromal tumor.
ovarian non-germ cell tumor.
secretes ESTROGEN (precocious puberty in kids).
```
155
what can granulosa cell tumor cause in adults?
endometrial hyperplasia or carcinoma (due to estrogen secretion)
156
findings in granulosa cell tumor
CALL-EXNER bodies: small follicles filled with eosinophilic secretions.
abn uterine bleeding.
157
Krukenberg tumor
GI malignancy that mets to ovaries, causing a mucin-secreting signet cell adenocarcinoma
158
ovarian cancer marker
CA-125: good for monitoring progress but NOT FOR SCREENING
159
RF for ovarian cancer
BRCA 1.
BRCA 2.
HNPCC.
family hx*** significant genetic predisposition
160
vaginal carcinoma: SCC
secondary to cervical SCC - thus assoc with HPV 16, 18
161
vaginal carcinoma: clear cell adenocarcinoma
affect women who were exposed to DES in utero
162
vaginal carcinoma: sarcoma botryoides
rhabdomyosarcoma variant.
affects girls < 4 yo.
spindle-shaped tumor cells with cross striations.
DESMIN POS.
