Repro/Genetics DIT Flashcards Preview

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Flashcards in Repro/Genetics DIT Deck (300):
1

layers of the penis?(6)

outer dermis
dartos fascia
deep bucks fascia
tunica albuginea covers
-2 copora cavernosa
-1 corpus spongeosum
urethra

2

Autonomic stimulation of male sex response
- Associated pathway w/ errection
- Increased what moleculy?

Point and shoot
Parasympathetic -> errection
- NO is release -> increased cGMP-> smooth muscle relaxation -> vasodilatation

Sympathetic -> emission
-move seamen to testes to prostate

Ejactulation - visceral and somatic nerves

3

Nerves carrying autonomic signal for male sexual response
(3)

Parasympathetic - pelvic

Sympathetic - hypogastric

Ejaculation - pudendal

4

landmark for pudendal nerve block?

ischial spine

5

3 ligaments connecting the the female reproduction to the pelvic wall
- connect specifically to?

cardinal ligament -> cervix (uterine artery)
suspensatory ligament -> ovary (ovarian artery)
broad ligament -> fallopian tube, uterus, ovary

6

Round ligament of the uterus is a remnant of what and connects to what

remnant of gubernaculum and connects to the labia majora

7

What connects the ovary to the uterus

ligament of the uterus
-NOT the round ligament

8

transition zone of the cervix composed of what histology

stratified squamous epithelial -> simple columnar epithelial

does not change much till cilia in the fallopian tube and cuboidal in the ovary

9

process vaginalis becomes what in the male and female?

male tunica vaginalis - just a covering

female - nothing

10

Which side of the body drains the gonadal/adrenal veins into the renal vein vs the directly into the IVC

Left

11

Lymphatic drainiage in repro?

Ovary/testes
proximal 2/3 vagina/uterus
distal 1/3 of vagina/scrotum

para aortic node

obterator, external iliac, hypogastric node

superficial inguinal node

12

SRY gene is responsible for?

production of testis determining factor and male sexual differentiation

13

Default path in sexual determination is ?

Female
- need SRY - testis determination factor

14

What does the mesonephric duct differentiate into in a male? (4)

Needs what to stimulate ?

Seminal vesicles
Epidydimis
vasdeferens
Ejactuatory Duct

NOT the prostate

Need testosterone

15

What cell produces the testosterone needed in early male differentiation?

What cell produces a product to stimulate the degeneration of the female parts precursor?

Leydig cell

Sertoli cell produces mullerian inhibitory factor to degenerate the paramesenphric duct

16

What leads the the creation of male external genitalia

Created by what enzyme?
- lack of this causes?

DHT

5 alpha aromatase
- leads to internally a male, externally a ambiguous

17

No Sertoli cells in a XY male would lead to ?

- no mullerian inhibitory factor

development of both paramesenephric derivatives and mesenephric derivatives (hermaphrodite)

18

Adult kidney is derived from

metanephros

19

Biconeate nucleus is due to ?

improper fusion of the paramesonephric ducts

20

Urogenital folds become what in males and females

Males - ventral shaft of penis

Females - labia minora

21

the scrotum of the male is analogous to the what on the female

labia majora

- labialscrotal precursor

22

hypospadius us what and due to?

urethra prematurely opening on the ventral shaft due to improper folding of the urogenital folds

23

Epispadius is often associated w/

extrophy of the bladder

Urethra is pointed up and the bladder wall can be exposed

due to faulty genital tubercle positioning

24

genital tubercle comes what in males and females?

clitoris
penis

25

paramesenephric duct gives rise to what 3 strutires

uterus
fallopian tube
upper portion of the vagina
- (lower is derived from urogenital sinus)

26

indirect hernias are found (2)

lateral to inferior epigastric and through the deep inguinal canal

27

direct hernias are found (2)

medial to the inferior epigastric and through the inguinal triangle (tear through inguinal canal)

28

femoral hernias are found (2)

beneath the inguinal ligament and through the femoral canal

29

Leydig cells are found where and produce what

Respond to ?

found in the interstitial tissue of seminiferous tubules

Make testosterone in response to LH

30

Sertoli cells are found where and produce what?

Respond to ?

found in the seminiferous tubule

- maintains the Blood test barrier

Make
- Androgen binding protein
- inhibin in response to FSH

Also responsible for antimullerian hormone

31

Spermatogenisis begins when?

Which cells are diploid

Which cells are haploid

Which cells lost their sister chromatid?

puberty

primary spermatocytes
-made via mitsosis

secondary spermatocytes
-made via meiosis 1

spermatid
-made via meiosis2

32

3 Androgens are

Testosterone - testies
DHT -testies
Androstenedione - adrenal

33

Aromatase is located where and does what?

converts testosterone and androstenedione to estradiol and estrone in the adipose tissue

34

DHT production is inhibited by what drug?

Finasteride

35

Testosterone has what toxic effects (4)

masculiniaztion of females
lowers LH in males via neg feedback
gonadal atrophy
high LDL and low HDL

36

Exogenous testosterone can have what disastrous effect on kids?

closes the epiphyseal plates early

37

Androgen insensitivity presentation?

Labs?
LH
Testosterone
Estrogen

XY female w/ short vagina - (antimullerian still working so no upper 2/3, but no testosterone -> DHT)

normal looking female otherwise other than testies in the labia majora

Testosterone is HIGH - receptors don't notice
LH is HIGH
Estrogen is HIGH - being converted by aromatase

38

Female w/ bilateral lumps in labia majora

androgen insensitivity

39

ambiguous sex until puberty where develops male secondary sexual characteristics - internally male characteristics

Lab values
LH
Testosterone
Estrogen

auto recessive 5 alpha reductase deficieny

XY male that cant convert testosterone to DHT

LH normal
Testosterone is normal
Estrogen is normal
DHT is LOW


For comparison a testosterone tumor would have high testiest-> low LH

40

True hermaphoditism

BOTH ovaries and testicular tissue present - very rare

41

Female that is primary amenorrea and cannot smell

Genetic default?

Kallman syndrome
-low GnRH -> low testosterone and LH

X linked KAL chain mutation

42

Female pseudohermaphrodite

examples?

XX female w/ internal ovaries but ambiguous/male genitalia

- congenital adrenal insufficiency
-- (21 beta hydroxylase deficiency most common)
-exogenous exposure to androgens during pregnancy

43

Male pseudohermaphrodite

examples?

XY male w/ internal testies but ambiguous/female genitalia

-androgen receptor deficiency

44

Elevated AFP(alpha feto protein) w/ testicular lump? (2)

Yolk sac tumor*

Teratoma 50%

45

Elevated bPH w/ testicular lump? (3)

Choriocarcinoma*

Teratoma
embryonal carcinoma

46

Epidydimitis most commonly caused by (3)

< 35 yrs GC and chlamydia )
-Doxy and ceftriaoxne RX

> 35 yrs/ anal sex enterobacteria
- Rx floroquinolones

47

Sudden onset of pain in the testicle w/ no relief w/ elevation


Rx?

testicular torsion

medical emergency need to manually untwist or surgical intervention

-absent cremaster

48

Undecended testicles called?

High risk of?(2)

Cryptochorchidism, usually unitlaeral

increased risk of
-germ cell tumors
-infertility

49

Bag of worms upon palpation of pampiform plexus? due to?

Not to be confused w/

Varicocele - patent tunica vaginalis

Hydrocele which transluminates
-spermatocele if dilated epidydymal duct

50

Most common testicular tumor affecting males 15-30

Prognosis?

Histology?

Seminoma

Excellent

Fried egg appearance - large cells w/ watery cytoplasm

51

Yellow mucinous tumor in a 3 year old male from his testie is?

Secreting?

Yolk sac tumor

Secreting AFP

52

Schiller Duval bodies found in?

yolk sac tumors

- resemble primitive glomeruli

53

High hCG seen in this testicular tumor

due to?

Concern of?

choriocarcinoma
- may also see in teratoma and embryonal carcinoma

disordered synctiotrophoblasts and cytotrophoblasts

hematogenous METS to the lung

54

glandular papillary morphology seen in a testicular tumor that was very painful

secretes?

embryonal carcinoma
- worst prognosis

may secrete - hCG
NORMAL - AFP if pure (increased if mixed)

55

multiple tissue types seen in a testicular tumor

teratoma

56

Tumor containing Reinke Crystals and male patient may present w/ gynecomastia

associated w/ (3)

Leydig cell tumor
- crystals are lipofusion pigment and rod shaped

exess testosterone being made
golden brown color
precoious puberty in boys

57

excess estrogen tumor in males

Sertoli tumor

58

Testicular tumor in a older male

Testicular lymphoma

METS

59

Common causes of Sexual dysfunction (3)

3 specific examples of each category except for 1

Drugs*
-Antihypertensives
-nuerolptics
-SSRIs
-ethanol

Disease
-DM*
-depression*
-atherosclerosis*

Psychogenic
-performance

*=80%

60

Severe drug -drug concern w/ sildenafil and what drug?

Other Side effects?(4)

Nitrates -> hypotension

Flushing
dyspepsia -
blue green color blindness
HA

61

Other uses of sildenafil

ED

also primary pulmonary HTN
Reynaulds

62

Bowen disease is?

risk of?

grey solitary crusty plaque on the shaft of penis

Squamous cell Carcinoma

63

Erythroplasia of Queyrat

red velvety plaque on the glans of the penis

64

Bowenoid disease

multiple reddish brown papules -
-No risk of Squamous cell

65

Balanitis

Due to ?

inflammation of the glans of the penis

Often due to candida
- also increased risk w/ DM and uncircumcised

66

BPH is most commonly found where

Hyperplastic or hyperplasia?

periurethral in the lateral and middle lobes

hyperplasia

Not felt in DRE
modest PSA increase

67

Moderate increase in PSA and nodular felt on posterior lobe w/ DRE?

prostatic adenocarcinoma

68

New onset of lower back pain, nontarumati in a male greater than 60

Check what labs(2)

Osteoblastic METS of prostate

PSA and alkaline phos

69

Rx for prostrate cancer

flutamid

70

dysuris, frequency, urgency and low back pain suspect in a male

prostiatis

Rx w/
-floroquinolones
-TMP-SMX

71

3 types of estrogen
- where are they found?
- Most potent

Estrone - males/females from peripheral aromatase

estradiol* - females from ovaries

estriol - from placenta

72

2 cell theory in estrogen production

Which gonadotropin is responsible for each?

theca cells responding to LH make androstenedione from cholesterol

Converted by granulosa cells w/ FSH stimulation to estradiol using aromatase

73

Ovulation is due to?

FSH matures a follicle ->
-> Estrogen being slowly made
-> positive feedback on GnRH and anterior pit
-> LH production and surge (inhibin blocks FSH)
-> ovulation

Follicle -> corpus lutem
-> progesterone and estrogen suppressing LH and FSH until dies 2 weeks later

74

Positive effect estrogen on heart

increased HDL and decreased LDL

75

Progesterones functions(5)

maintains pregnancy

decreases myocyte contractibility/ smooth muscle relaxation

produces thick cervical mucus to protect from infection and sperm

inhibits LH and FSH

withdrawal leads to menstration (w/out beta hCG)

76

Role of estrogen(5)

growth of follicle
endometrial profliferation
secondary sex characteristics
up regulation of estrogen receptors
increases transport proteins

77

Which stage of menstrual cycle is steady and what is the length

The luteal/secretory stage is always 14 days

the follicular/proliferative is more variable

78

Oligomenorrhea

> 35 day cycles

79

polymenorrhea

<21 day cycles

80

Menorrhagia

heavy periods

81

metrorrhagia

irregular frequent periods

think of the metro

82

menometrorrhagia

combination
-heavy periods
-irregular and frequent periods

83

Mittelschmerz

brief pain felt w/ ovulation (mid cycle pelvic pain)

Usually brief 5 min

can mimic appendicitis

84

when does a women's basal temp go up in a cycle and due to what hormone

24 hrs after ovulation due to progesterone

85

Fertilization most often occurs where and when

upper end of the fallopian tube
1 day after ovulation

86

When does implantation of trophoblasts occurs?

Can detect beta hCG in Serum?
in Urine?

6 days after fertilization

blood - 1 week

urine -2 weeks (post missed period)

87

Beta HCG is similar to what other hormones(3)

LH
FSH
TSH
-similar alpha units


only differs w/ the beta

88

Which hormones increase throughout pregnancy? (3)

prolactin
progesterone
estriol

beta hCG peaks at first than drops then has a later peak before tapering off and inducing labor

89

lactation is due to what hormone change

decrease in progesterone, need to get rid of the placenta (

90

Suckling increases the production of what hormones? (2)

prolactin - milk lactation and lower reproductive function

Oxytocin- bonding and milk letdown

91

after the corpus luteum in 6 weeks, progesterone primarily is derived from?

synctiotrophoblasts of the placenta

92

Hormone most directly responsible for ovulation

LH surge

Due to building estrogen induced positive feedback

93

Contraindications for OCPs? (3)

smokers > 35
migraines w/ aura
history of estrogen dependent tumor

94

Why does OCP help w/ acne

increases steroid binding proteins in the liver leading to less testosterone

95

Complications of OCPs

Hypercoaguable state (DVT risk)
increased triglycerides
Gi/ Nausea
Mood changes
HTN
Rarely weight gain

96

2 biggest concern w/ depo-provera shot

Bone mineral density loss - use less than 2 yrs

Irregularity on length of action (3-12 months)

Good when unknown reliability of taking medications (OCP) and mental retardation

97

Why is progesterone given w/ estrogen replacement therapy

Unopposed estrogen -> increased endometrial CA risk

98

Indications for Hormone replacement therapy in women (2)

Hot flashes and vaginal atrophy

Not osteoperosis - use bisphosphates

99

what can't a smoker over the age of 35 have

OCPs

100

Menopause symptoms

Lab test?

HHVAOC

Hirsituism
Hot flashes
Vaginal Atrophy
Osteroperosis
Cardiovascular risk

Increased FSH, also LH and GnRH

101

rifampin is given to a girl who is on OCPs and she gets pregnant. Why?

Inducing Cyp 450

Coronas, Guiness and PBRS induces Chronic Alcoholism

102

diffuse painless feeling of sitting on an egg or protrusion in a female?

prolapsed organ

cystocele- bladder
rectocele- rectum
enterocele - small intestine

103

Vaginismus

spasm of the vaginal wall w/ touch leading to pain

104

vestibulitis

burning at the opening of the vagina
- psych, trauma of infection may be the cause

105

positive desmin stain and spindle shaped cells seen in a tumor in a female less than 4

Sacroma botryoides - rhabdomyosarcoma

106

viral products of HPV leading to CIN and VIN (2)

E6 degrades p53

E7 -inhibits Rb suppression

107

enlarged dark nuclei w/ perinuclear clearing

koilocytes in HPV

108

lateral invasion that can block the ureters is a rare complication of this carcinoma

invasive cervical carcinoma
- usually squamous cell

10% adenocarcinoma

109

most common tumor in women

Leiomyoma

110

Most common gynecologic malignant CA in women worldwide

Cervical Cancer

111

Most common gynecologic malignant CA in women in the US

Endometrial Cancer

112

Chocolate cysts

Pathology also found

endometriosis of the ovary

also found in the peritoneum

113

Symptoms of endometrious (4)

Rx?

perimenopausal pain (1 week before)
pain w/ intercourse
pain w/ defication
Blood in stool or urine

OCPs
Leuprolide
danazol - historical

114

Perimenopausal pain w/ enlarging uterus

Pathology?

Diagnosis by?

Adrenomyosis

endometial tissue in the myometrium

Diagnosis is by Rx - hysterectomy

115

Dysparuneia

Highly suggestive of?

Pain w/ intercourse

endometriosus
adenomyosis*

116

Smooth muscle w/ endometrial tissue and sawtooth pattern

adenomyosis

117

excess unopposed estrogen leads to these 2 issues

endometerial hyperplasia

endometrial carcinoma

118

Gynecological cancer with the worst prognosis?

Ovarian

Found so late it METS

119

Clinical manifestation of postmenopausal bleeding or menorrhagia/metorrhagia after 35?

Increased risk w?(3)

endometrial hyperplasia -> endometrial carcinoma

anovulatory cycles
Hormone replacement therapy
polycystic syndrome

120

Risk Factors for endometrial carcinoma?

Hyperplasia
HTN
Obesity - (increased aromatase action)
Nullparity
Diabetes
Annovulatory cycles

late menopause/early menarche

121

Whorled pattern of smooth muscle that is well circumscribed

leiomyoma

122

Symptoms of leiomyoma (4)

Asymptomatic *
Abnormal uterine bleeding

bulk symptoms
rarely pain

123

Bulky irregularly shaped gynecological tumor w/ areas of necrosis

risk of recurrence?

leiomyosarcoma

HIGH, same as w/ leiomyoma but have no relation (de novo)

124

Mitotic spindle and desmin + tumor w/ a high rate of recurrence tumor that is very aggressive in 20-40 yr old black female

leiomyosarcoma

125

What circumstances may you see a high LH (4)

PCOS
periovulation
menopause
androgen insensitivity syndrome

126

A patient w/ PCOS is most at risk for developing what cancer?

endometrial cancer

127

What is the underlying cause of PCOS?

Increased LH

128

Treatment of PCOS and why?(6)

Spiranolactone - Hirsutism
Clomiphene - pregnancy
Leuprolide - pregnancy
Weight lose - for less aromatase
Metformin - for insulin resistance
medroxyprogesterone - for CA risk and feedback on LH -> lower androgens-> increased SBGH (acne)

129

Symptoms of PCOS (3 main) (4 associations)

Lab Tests?(4)
LH
FSH
Testosterone/androgen
Insulin

amenorrhea
Hirsutism
cysts on US

Acne
Obesity
Insulin resistance
Infertility

Increased LH:FSH
->increased androgens w/ high LH
->Increased estrogen (aromitization)
->decreased FSH (neg feedback)
Increased insulin

130

Test for premature ovarian failure

HIGH FSH

under 40 yrs should be normal

131

Most common cause of anovulation ?

Also (4)

pregnancy

PCOS
Obesity ( high estrogen from aromatase)
Starving/stress
Endocrine
-Cushing
-thyroid
-hyperprolactemia
-adrenal insufficiency

132

Chemical menopause

leuprolide

133

Useful drug in infertility Rx

Symptoms?

clomiphene
-partial estrogen agonists


hot flashes
ovarian hyperstim and enlargement
twins
visual disturbances
GI and Breast ∆

134

distention of unruptered graafian follicle is?

More often seen in?

follicular cyst, failure of dominant follicle to release egg

very common in young women - especially
-smokers,
tomoxifen
progesterone only birth control

135

hemorrhage of a blood vessel into a persistent corpus luteum

hemorrgagic corpus luteum cyst - usually self resolving

136

ovarian torsion more often in (2)

congenital abnormalities

ovarian cysts -> ovary > 5 cm

137

CA- 125

Useful ovarian CA marker to follow

138

Risk factors of ovarian CA (2)

pronged uninterrupted cycles
- null parity, late menopause, early Menarche,

Brease feeding protective

Family risk - HNPCC/Lynch and BRCA 1 and 2


139

4 Main types of ovarian tumors

Epithelial
Germ Cells
Stroma
Metastatic

140

6 main types of epithelial ovarian cancers

SERious Menstrual ENemies CLEARly BRing MIsery

Serous (cystadenoma or cystadenocarcinoma)
Mucinous (cystadenoma or cystadenocarinoma)
Endometroid
Clear Cell Adenoma
Brenner
Mixed

141

4 main type of ovarian germ cell cancers

Dysgerminoma
Teratoma
Endodermal Sinus
Choriocarcinoma

142

3 main type of stromal/sex cell ovarian CA

Granululosa Theca
Leydig Sertoli
Fibroma

143

Sheets of uniform cells found in a ovarian CA that is secreting hCG and LDH

often associated w/

Dysgerminoma

Turner syndrome

144

Ovarian tumor where chorionic villi are not present and high secretion of b hCG

risk of spread where?

Choriocarcinoma

to the lungs

145

Yellow friable mass of a ovarian tumor w/ Schiller Duval bodies (little glomeruli)

Secretes what?

Yolk sac tumor

Secretes AFP

146

Difference between an Immature and Mature Teratoma in ovarian CA

Mature also called a dermoid cyst, more common and is benign

Immature is aggressively malignant w/ immature neural elements

147

Struma ovarii

a type of mature teratoma that contains functional thyroid tissue
-> hypeerthyroidism

148

Ovarian tumor resembling a fallopian tube (ciliated) and is frequently bilateral

serous cystadenoma

Most common

149

Psammoma bodies seen in this ovarian CA

serous cystadenocarcinoma

malignant

150

benign intestine like tissue w. mucous secreting epithelium seen on pathology of a ovarian tumor

mucinous cystadenoma

151

intraperitoneal accumulation of mutinous material from ovarian tumor is called?

Which tumor?

pseudomyxoma peritonei

mucinous cystadenocarcinoma
- looks like an intestinal adenoma

152

ovarian tumor defined by transitional epithelium and coffee bean nuclei

Brenner tumor

looks like a bladder

153

Meigs syndrome is what?

Associated w what ovarian tumor that is describes as pulling sensation in the groin?

Ovarian fibroma
ascitis
hydrothorax (pleural effusion)

Fibroma

154

Ovarian tumor that leads to precious puberty in females?

Seen on pathology?

Granulosa theca tumor

call exner bodies - disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions

155

disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions pathology term

Seen in?

Call exner bodies

seen in granulosa theca cells

156

Kruckenberg tumor

GI METS to the ovary

mucin secreting signet cell adenocarcinoma

157

GI METS to the ovary

Seen on path?

Kruckenberg tumor

mucin secreting signet cell adenocarcinoma

158

Rare ovarian tumor leading to viralization

Sertoli leydig

Can get quite large

159

Endometroid tumor

adenocarcinoma that is a epithelial ovarian tumor
looks like endometrium

160

Maternal contribution to the placenta?

decidua basalis

161

stem cell precursor of the placenta vs the b HCG secreter portion

cytorophoblasts contain stem cells

Syncytiotrophoblasts are the outer layer -> b hCG

162

Gravida vs Parity

Gravida is number of pregnancies

Parities in # of deliveries > 20 wks

163

Umbilical cord is made of
-go to

2 uterine arteries from the internal iliac arteries

1 uterine vein -> ductus venosis and IVC

164

Urine discharge around the umbilicus is due to what defect?

suppose to become?

patent urachus (connects the bladder to the yolk sac)

Urachus -> median umbilical ligament

165

vesicourachal diverticulum is

outpouching of the bladder

166

Meconium discharge from the umbilicus due to?

vitilline fistula (connected the midgut to the yolk sac)

167

partial closure of the vitelline duct is called?

Symptoms?

meckels diverticulum

melana, periumbilcal pian and ulcer

168

number of chorions and amnions w/ twinning?

Monozygotic timeline

Dizygotic timeline

Dizygotic always has 2

Monozygotic
-Split at 0-4 days: dichorionic/diamniotic

-Split 4-8 days (morula): monochorionic/diamniotic

-Split 8-12 days (blastocyst): monochorionic/monoamniotic (aka sharing everything)

169

Change in CO and plasma volume with pregnancy?

Other changes? (4)

CO increases 30-50%
Plasma volume increases 50%

respiratory alkalotic w/ hyperventilation
increased GFR
increased prolog factors
peripheral insulin resistance

170

human placental lactogen released in pregnancy leads to?

hyperinsulemia
hyperglycemia
hyperlypidemia

want to get nutrients to the baby

171

What is RhoGAM?

anti Rh IgG to prevent mom(Rho -) from forming Antibodies to Rh factor

next kid is screwed if IgG antibodies are made

172

lecithin sphringomylein useful indicator of what?

lung maturity > 2.0

173

Chorionic sampling va amniocentesis

CVS is direct sampling of fetal chromosome from the placenta - more risk

amniocentesis- quad and triple screen looking for trysomy - definitive vs mother serum

174

AFP can be increased in pregnancy screenings for what 3 complications

neural tube defects
multigravida(twins)
abdominal wall abnormalities

improper dating also

175

Decreased AFP and estriol w/ increased hCG during maternal screen is indicative of

Trisomy 21

176

Decline in all 3 indicators ( AFP, hCG and Estriol) indicative of

Trisomy 18

177

Placenta previa presentation

Rx?

attachment of placenta that covers the cervical os or near

presents as painless bleeding in 3rd trimester
- Use and US not your fingers

Rx is c section

178

Vasa previa

fetal blood vessels cover the cervix

Risk of fetal hemmohage

179

Lower than expected hCG for dates and sudden lower abdominal pain

Risk Factors

Ectopic pregnancy

Risk factors
- infertility Hx
-PID
-prior surgery
-endometriosis
-IUD IF manages to get pregnant

180

Causes of polyhydraminos(3)

esophageal atresia
duodenal atresia
anecephaly - lack of swallowing reflex

181

Causes of olighydraminos (3)

placental insufficiency
bilateral renal agenesis (potters syndrome)
poterior urethral valves)

182

Potters syndrome(3)

not enough fluid in the placenta that can be due to bilateral renal w/
-oligohydraminos
-facial/limb abnormalities
-pulmonary hypoplasia

183

Causes of miscarriage (6)

low progesterone
chromosomal anomalies - spontaneous trisomy16***
uterine abnormalities
infection
poor mother heath
Autoimmune/clotting disorder

184

Gestational diabetes is due to ?

leads to?

RX?

human placental lactogen -> increased insulin resistance and hyperglycemia after 20 weeks

high risk of DMII later on

Macrosomia - big baby
still birth w/ toxicity to the placenta

Rs - insulin tight control

185

Type I or II DM risk in addition to what normally is seen in gestational diabetes(3)

fetal anomalies
- congenital heart defects
-nerual tube defects
-caudal regression syndrome


in addition to usual stillbirth and miscarriage risk

186

Placenta accreta is?

Increased risk w?

defective attachment of placenta to the myometrium and leads to retained placenta

Increased risk w/ c section ( which also has an increased risk in placenta previa)

187

Painful bleeding in 3rd trimester

Risk factors?

premature detachment of the placenta
- life threatening

Risk w?
Trauma/abuse/MVA
Ischemia - Cocaine, smoking and HTN

188

presentation of a pregnant mother in the 3rd rimester w/ anemia, jaundice, RUQ pain and bruising

Due to

Think of HELLP, often associated w/ preeclampsia

Hemolysis
elevated liver enzymes
Low platelets

189

Eclampsia treatment

Magnesium sulfate IV

Watch for low DTR, pulmonary edema, altered mental status, cardiac conduction defect

190

Definition of preeclampsia (3)

hypertension(>140/90 by 20 weeks)
proteinuria (>300mg/24hrs
edema

eclampsia w/ seizures

191

uterus larger than expected for dates as well as very large beta hCG with HTN before 20 wks - think of

Complete hydroform mole

192

abnormal bleeding w/ honeycomb or snowstorm appearance on ultrasound think of

Concern w?

hydroform mole - complete of not

Choricarcinoma if it is a complete mole

193

Difference between complete and incomplete hydroform mole

Complete
-XX or XY w/ empty egg fertilized
-15-20% malignant tophoblast
- HIGH b hCG

PArtial
-XXY, XXX w/ egg
- fetal parts

194

Common tocolytics (4)

Indomethacin
Magnesium sulfate
Tobutamine
Nefedipine

195

Common meds to induce labor(3)

Misoprostol - PGE1
Dinoprostol - PGE2
Pitocin/Ocytocin

196

Chemically induce an abortion and MOA

Mifepristone (RU 486) - competitive antagonist of progesterone

Misoprosterol - stimulate uterine contraction and expelling

197

Drugs given in Mothers W/ HTN (3)

Meythyldopa
Hydralazine
lobetalol

198

Drug given to mothers w/ hyperthyroidism

1st trimester propylthiouracil
methmazole after teratogen period

199

Epilepsy concerns w/ a Mother and what medication changes do we consider (2)

Take of valproic acid if on it

INCREASE folic acid

200

atrification L ventricle of the heart is associated w/ what drug

Lithium in Mothers

Ebsteins Anomaly

201

Why is increased folic acid especially important w/ epilepsy patients

Taking medications that may lead to neural tube defects

Valproic acid is especially harmful

202

Gene linked to Fragile X syndrome and function of that gene

FMR1
(X linked -> men predom)
- trinucleotide repeat disorder

cytoplasmic protein the in brain and testes -> mRNA production of axons and dendrites

203

Symptoms/presentation of fragile X Syndrome(5)

What cardiac feature?

macro-orchadism
long face
large jaw
everted ears
autism

Mitral valve prolapse

204

Lab test of Down syndrome w/ 2nd semester quad screen

AFP
beta hCG
estriol
inhibin A

AFP - Down
b hCG - UP
estriol - Down
Inhibin A - UP

205

Lab test of Edwards syndrome w/ 2nd semester quad screen

AFP
beta hCG
estriol
inhibin A

AFP Down
b hCG DOWN
estriol DOWN
inhibin A - Normal

206

Lab test of Patau syndrome w/ 2nd semester quad screen

AFP
beta hCG
estriol
inhibin A

NOT DONE

1 st trimester may see decreased b hCG and PAPP A

207

Nuchal translucency seen in (3)

Down Syndrome
Turner Syndrome
Patau Syndrome

208

2 diseases of higher prevalence in Down Syndrome

ALL
Alzheimers

209

Presentation of Down Syndrome (7)

2 specifically to look out for later complications right after birth?

mental retardation
flat facies
prominent epicanthal folds
simian crease
gap between 1st 2 toes
duodenal atresia*
congenital heart disease*(endocardial cushion - VSD w/ crest cell migration failure)

210

Downs may be caused by (3)

Advanced maternal age -> meiotic nondisjunction
Robertsonian translocation
Mosaic

211

Severe mental retardation, rocker bottom feet, micrognathia, low set ears and prominent occiput

Edwards Syndrome

212

Severe mental retardation, rocker bottom feet, microcephaly, cleft lip, holoprosencephaly, polydactyl

Platau

- failure of the Sonic gene w/ holoprosencephaly

213

severe mental retardation, high pitched crying, and microcephaly due to?

Cardiac abnormality?

microdeletion on chromosome 5

Cri-du chat syndrome

VSD

214

Williams Syndrome is characterized by?(5)

Will Farrell in ELF

microdeletion on chromosome 7

elfin face
intelectual disability
increased verbal skills
extreme friendliness
hypercalcemia w/ Vit D senstitivity

215

22q11 deletion characterized by

CATCH-22, failure of 3 and 4th pouch

Cleft lip
Abnormal Facies
Thymic dysplasia
Cardiac defects
Hypocalcemia (no parathyroids)

Digeorge most common

216

2 types of 22q deletion presentations

Digeorge Syndrome
- thymic,
-parathyroid
- cardiac defects

Velocardiofacial syndrome
-palate
-facial
-cardiac defects

217

Klinefelters syndrome characterized by?(5)

Labs?
FSH
testosterone
estrogen

XXY males w/
gynectomastia, long torso, testicular atrophy(hypogonadism), w/ infertility

Barr body (XX)

High FSH due to decreased inhibit (seminiferous tubules messed up)

low testosterone

estrogen high

218

Turner syndrome characterized by?

Labs?
FSH
testosterone
estrogen

OX female that is short w/ broad chest cystic hygroma (webbed neck), streak ovaries

FSH is high
due to LOW estrogen

219

Cardiac concerns w/ turners syndrome (2)

Bicuspid aortic valve
Coarctation of the aorta

Also has a horseshoe kidney

220

biggest cause of primary amenorrhea

turner syndrome, need to R/o

221

Autosomal Dom Diseases(13)

achondroplasia
ADPKD
Familial adenomatous polyposis
Familial hypercholesterolemia
osler weber Rendu
Hereditary spherocytosis
Huntingtons
Marfans
Multiple endocrine neoplasm
Neurofibromatosis 1
neurofibromatosis 2
Tuberous Sclerosis
von Hippel Lindau disease

222

advanced paternal age is associated w. this defect in FGF receptor 3 leading to

Achondroplasia

AD

223

ADPKD associations beyond the kidney(3)

Affects chromosome?

Which is always bilateral

berry aneurisms
mitral valve prolapse
polycystic liver disease

Chromosome 16

224

Adematous polyps after puberty due to ?

Which chromosome?

Familial adenomatous polyposis - AD
-

Chromosome 5 carrying the APC gene

225

Gardners disease?

Gardening polyps and masses all over

polyps in the colon, osteomas, lipomas, sebaceous cysts

Related to FAP

226

Familial hypercholesterolemia is due?

defective or absent LDL receptor leading to increase in LDL.

Auto Dom

227

Kid in their 20s presenting w/ an MI think of

Familial hypercholeserolemia

May also have xanthomas

228

Osler weber rendu is

Presentation(4)

disorder of blood vessels, AD
(also called hereditary hemorragic telangiectasia)

telangiectasia, recurrent epistaxis, skin discoloration (bruising), arteriovenous malformations

229

Spheroid lymphocytes and increased MCHC are both found in ?

Defect in(2)

Rx?

Hereditary spherocytosis (AD)
hemolytic anemia in the spleen by macrophages

ankyrin and spectrin -> increased concentration of Hg relative to size

Rx -splenectomy

230

spectrin and ankyrin are defective in ?

Test for it?

Hereditary spherocytosis

Increased MCHC
osmotic fragility test

231

Huntingtons presentation is characterized by (3)

lesion in the?

deficit in what neurotransmitters

depression, progressive dementia, choreiform movement

Lesion in caudate nucleus

Deficit in ACh and GABA

232

Huntingtons gene is located on

Due to?

Chromosome 4, Auto Dom

trinucleotide repat CAG

Often presents around 40

233

Marfans is due to a defect in ?

Presentation (3)

Path concerns(3)

Fibrillin 1 gene - Auto Dom

pectus excavatum
tall and lanky
hypermobile joints

cystic medial necrosis of aorta -> aneurysm or dissection
floppy mitral valve
subluxation of the lens


234

subluxation of the lens w/ cardiac abnormalities especially the aortic root?

Marfans - Auto Dom

235

MEN 1 tumors

Pituitary adenoma
Parathyroids adenoma
Pancreatic

(diamond)
p53 mutation
auto dom

236

MEN2A tumors

Medullary thyroid carcinoma
Pheochromocytoma
Parathyroids

RET mutation - Auto Dom

237

MEN2B tumors

Medullary thyroid carcinoma
Mucosal tumors
Pheochromocytoma

RET mutation - Auto Dom

238

Neurofibromatosis 1 is found on chromosome?

17
Auto dominant

239

Presentation of NF1 (4)

cafe au lair spots
neuronal tumors
Lisch nodules (pigments iris hamatomas)

scoliosis also

240

Person somes in w/ bilateral hearing loss and juvenile cataracts think of?

what also may they have?

Neurofibromatosis type 2

tinitus, vision changes, hyper pigmentation, balance problems

Chromosome 22 - Auto dominant

241

NF2 mutations is found on chromosome?

22

Auto dominant

242

Adenoma sebaceum (facial lesions), and seizures, hypo pigmented spots of skin and mental retardation has?

is at increased risk for?(3)

Tuberous sclerosis - Auto dom

seizures are due to cortical harmatomas, also retinal harmatomas

Increased risk of astocytomas, renal angiomyolipomas, cardiac rhabdomyomomas

243

Tuberous sclerosis inheritance

Auto dominent
incomplete penetrance -> variable presentation

244

Von hippel lindeau findings? (3)

Associated w/ 50% of the time w?

hemangioblastomas of
-retina
-cerebellum
-medulla

bilateral renal cell carcinomas

Auto dom disease

245

VHL gene deletion of Chromosome 3 leads to

constitutive expression of HIF - transcription factor -> angiogenic growth facts and hemangioblastomas of retina, cerebellum and medulla

auto dom disease
von hippel lindeau - 3 words - chromosome 3

246

Trinucleotide repeat diseases(4)

Fragile X
Friedreichs ataxia
Huntingtons
Myotonic dystrophy

247

CGC

fragile X

248

GAA

friedreichs ataxia

249

CAG

Huntingtons

250

CTG

Myotonic Dystrophy

251

Anticipation means (2)

in future generations either have:
increased severity
decreased age of onset

252

Auto Recessive disease(10)

Albinism
ARPKD
cystic fibrosis
glycogen storage diseases
hemochromatosis
mucopolysacharidosis (except hunters)
PKU
sickle cell anemia
sphingolipdoses (except Fabrys)
thalassemia

253

X linked disorders


Oblivious Female Will Give Her Boys xLinked Disorders

Ocular albinism
Fabrys
Wiskott Aldrich
G6PD deficiency
Hunters/Hemophila
Brutons Agammaglobulinemia
Lesch Nyhann syndrome
Dystrophy (Beckers/Duchene)

254

Cystic fibrososis is caused by a defect where

What does the gene do?

CFTR gene on chromosome 7

Reabsorbs Cl from sweat
Secretes Cl into the lumens of GI tract and lungs -> loosen up

255

Presentation of CF in an infant(3)

meconium ileus
fatty stools/ FTT (pancreatic def)
chronic bronchitis

256

Complications of CF

infertility in males
Fat soluble deficiencies (FTT)
-pancreatic insufficiency
chronic bronchitis
-bronchiectasis
Pseudomonal infections
meconium ilieus

257

Rx for CF(3)

N acytylcysteine

Pancreatic enzymes

Floroquinolones for Pseudomonas

258

Defect in alpha galactosidase will lead to?

Accumulate what?

Fabrys(X linked)

ceramide trihexoside

259

2 X linked storage diseases

Fabrys and Hunters

260

Defect in glucocerebrosidase will lead to?

Accumulate what?

Gauchers Disease

Accumulate Glucocerebroside

261

Defect in Sphingomyleinase will lead to?

Accumulate?

Niemann Pick Disease

Sphingomylin

262

Defect in Hexoaminidase A will lead to ?

Accumulate?

Tay Sachs

GM2 ganglioside

263

Defect in Galactocerebrosidase will lead to?

Accumulate

Krabbe disease

Galactocerebroside

264

Defect in arylsulfatase A will lead to ?

Accumulate

Metachromic leukodystrophy

Cerebroside sulfate

265

Defect in alpha L iduronidase will lead to?

Accumulate

Hurlers Syndrome

Heparan sulfate and dermatan sulfate (same as Hunters)

266

Defect in iduronate sulfatase will lead to ?

Accumulate?

Hunters Syndrome (X Linked)

Accumulate Heparan sulfate and dermatan (Same as Hurlers)

267

Fabrys disease presents w?(3)

Pain and peripheral neuropathy
angiokeratomas*
cardiovascular/renal disease

-Alpha galactosidase def

268

Gauchers disease presents w?(3)

Hepatosplenomegaly
*aplastic necrosis of femur
-(Pancytopenia)
*macrophages look like tissue paper(Gaucher cells)

-glucocerebrosidase deficiency

269

Niemann Picks Disease presents w?(4)

progressive neurodegeneration
Hepatosplenomegaly ** (tay sachs)
Cherry spot on macula
Foam cells*

Spingomyelinase deficiency

270

Tay Sachs disease presents w?(3)

progressive neurodegeneration
NO hepatosplenomegaly (Nieman PicK)*
developmental delay

death by 4
defect in hexosamindase A

271

Krabbe Disease presentation?(4)

Similar to ?

(Myelin sheath disorder ->)
Peripheral neuropathy
Developmental delay
Optic atrophy

defect in galactocerebrosidase

Metachromic leukodytrophy

272

Metachromic leukodystrophy presentation? (5)

Similar to

(myelin sheath)
peripheral demyination
ataxia
dementia
progressive vision loss

Arylsulfatase A defect

Similar to Krabbe Disease

273

Hurlers syndrome Presentation? (4)

Same class as?

Developmental delay
Gargoylsm (short/coarse facial features)
corneal clouding* (not in hurlers)
hepatosplenomegaly

defect in alpha L iduronidase

Hunters(X linked)

274

Hunters syndrome presentation

Same class as?

Mild hurler's syndrome +
aggressive behavior
NO corneal clouding* (Hurlers)

Defect in iduronate sulfatase


Same class as Hurlers

275

Causal agent of mastitis

Staph aureus

276

Causes of gynecomastia?((4)

Drugs
Cirrosis
Klinfelters syndrome
hyper estrogen periods - old age, puberty

277

Benign epithelial lesions of the breast

Proliferative (2)

Nonproliferative atypia(3)

Fibrosis- hyperplasia
Cysts - fluid filled cavities (blue domes)

Sclerosing adenosis - increased glandular tissue (may be Ca)
Epithelial hyperplasia - increase cell layer
Complexing sclerosisng lesion - scar of irregular shape

278

Benign breast tumors (3)

fibroadenoma
intraductal papilloma
phyllodes tumor

279

most common tumor under the age of 35

Characterized by?

Fibroadenoma

small mobile firm mass
∆size and tenderness perimenstration

280

Most common cause of breast discharge in a female

intraductal papilloma.

Bloody or straw colored, unilateral.

281

Large bulky mass w/ leaf like projections in the breast

Risk of CA?

Phollodes tumor

small

282

Risk factors for breast CA (3)

increased estrogen exposure
-null parity,
-lack of breast feeding
-older 1st child
Family history
- BRCA
Obesity
-peripheral

283

Common location of breast CA and biggest indicator of prognosis

Upper outer quadrant

lymph node involvement

284

Erb2 codes for?

HER 2 receptor
an EGF growth factor the is over expressed on some Breast CA

Targeted w/ Trastuzunab

285

Most common breast mass in post menopausal women

invasive ductal carcinoma

286

most common breast mass in pre menopausal women

fibrocystic changes

287

Most common form of breast cancer

invasibe ductal carcinoma

288

Signet ring cells (2)

lobular breast CA
Kruckenberg tumor (GI-> ovary)

289

Loss of e cadherin adhesion on chromosome 16 is seen in

Lobular CA
-invassive
-in-situ

290

always ER + and PR positive breast CA

Lobular CA

291

Risk of Tamoxifen use?(2)

endometrial CA
osteoperosis

292

Blue dome cyst in breast

fibrocytic changes

293

Comedocarcinoma?

Subtype of DCIS w/ caseous necrosis

Also - solid, cribiform, papillary, micropapillary

294

Invasive ductal carcinoma characterized by?

firm fibrous, rock hard mass that is immobile,

Stellate appearance

most common

295

Most common invasive breast tumor to become bilateral?

invaslive lobular

ER + and PR +
signet cell ring

296

INflammatory changes in a breast means what is going on?

See?

Dermal lymph involvement of invasive CA

pleu d' orange(dimpling), nipple inversion,

297

Eczematous patch on the areola and breast?

Histology

Concern of Pagets disease and underlying DCIS

large cells in the epidermis w/ clear ahlo

298

Fleshy, cellular lymphocytic infiltrate of the breast?

Medullary tumor

299

SERMS used in breast CA? (2)

Risks?

tomoxifen - prevent and treat ER + breast CA, risk of endometrial CA and bone

Raloxifene- used more for osteoporosis but can work w/ breast CA, NO endometrial risk

300

Breast CA drug used post menopause

Aromatase inhibitors
-Anastrozole