Flashcards in Repro/Genetics DIT Deck (300):
layers of the penis?(6)
deep bucks fascia
tunica albuginea covers
-2 copora cavernosa
-1 corpus spongeosum
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
Nerves carrying autonomic signal for male sexual response
Parasympathetic - pelvic
Sympathetic - hypogastric
Ejaculation - pudendal
landmark for pudendal nerve block?
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
Round ligament of the uterus is a remnant of what and connects to what
remnant of gubernaculum and connects to the labia majora
What connects the ovary to the uterus
ligament of the uterus
-NOT the round ligament
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
process vaginalis becomes what in the male and female?
male tunica vaginalis - just a covering
female - nothing
Which side of the body drains the gonadal/adrenal veins into the renal vein vs the directly into the IVC
Lymphatic drainiage in repro?
proximal 2/3 vagina/uterus
distal 1/3 of vagina/scrotum
para aortic node
obterator, external iliac, hypogastric node
superficial inguinal node
SRY gene is responsible for?
production of testis determining factor and male sexual differentiation
Default path in sexual determination is ?
- need SRY - testis determination factor
What does the mesonephric duct differentiate into in a male? (4)
Needs what to stimulate ?
NOT the prostate
What cell produces the testosterone needed in early male differentiation?
What cell produces a product to stimulate the degeneration of the female parts precursor?
Sertoli cell produces mullerian inhibitory factor to degenerate the paramesenphric duct
What leads the the creation of male external genitalia
Created by what enzyme?
- lack of this causes?
5 alpha aromatase
- leads to internally a male, externally a ambiguous
No Sertoli cells in a XY male would lead to ?
- no mullerian inhibitory factor
development of both paramesenephric derivatives and mesenephric derivatives (hermaphrodite)
Adult kidney is derived from
Biconeate nucleus is due to ?
improper fusion of the paramesonephric ducts
Urogenital folds become what in males and females
Males - ventral shaft of penis
Females - labia minora
the scrotum of the male is analogous to the what on the female
- labialscrotal precursor
hypospadius us what and due to?
urethra prematurely opening on the ventral shaft due to improper folding of the urogenital folds
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
genital tubercle comes what in males and females?
paramesenephric duct gives rise to what 3 strutires
upper portion of the vagina
- (lower is derived from urogenital sinus)
indirect hernias are found (2)
lateral to inferior epigastric and through the deep inguinal canal
direct hernias are found (2)
medial to the inferior epigastric and through the inguinal triangle (tear through inguinal canal)
femoral hernias are found (2)
beneath the inguinal ligament and through the femoral canal
Leydig cells are found where and produce what
Respond to ?
found in the interstitial tissue of seminiferous tubules
Make testosterone in response to LH
Sertoli cells are found where and produce what?
Respond to ?
found in the seminiferous tubule
- maintains the Blood test barrier
- Androgen binding protein
- inhibin in response to FSH
Also responsible for antimullerian hormone
Spermatogenisis begins when?
Which cells are diploid
Which cells are haploid
Which cells lost their sister chromatid?
-made via mitsosis
-made via meiosis 1
-made via meiosis2
3 Androgens are
Testosterone - testies
Androstenedione - adrenal
Aromatase is located where and does what?
converts testosterone and androstenedione to estradiol and estrone in the adipose tissue
DHT production is inhibited by what drug?
Testosterone has what toxic effects (4)
masculiniaztion of females
lowers LH in males via neg feedback
high LDL and low HDL
Exogenous testosterone can have what disastrous effect on kids?
closes the epiphyseal plates early
Androgen insensitivity presentation?
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
Female w/ bilateral lumps in labia majora
ambiguous sex until puberty where develops male secondary sexual characteristics - internally male characteristics
auto recessive 5 alpha reductase deficieny
XY male that cant convert testosterone to DHT
Testosterone is normal
Estrogen is normal
DHT is LOW
For comparison a testosterone tumor would have high testiest-> low LH
BOTH ovaries and testicular tissue present - very rare
Female that is primary amenorrea and cannot smell
-low GnRH -> low testosterone and LH
X linked KAL chain mutation
XX female w/ internal ovaries but ambiguous/male genitalia
- congenital adrenal insufficiency
-- (21 beta hydroxylase deficiency most common)
-exogenous exposure to androgens during pregnancy
XY male w/ internal testies but ambiguous/female genitalia
-androgen receptor deficiency
Elevated AFP(alpha feto protein) w/ testicular lump? (2)
Yolk sac tumor*
Elevated bPH w/ testicular lump? (3)
Epidydimitis most commonly caused by (3)
< 35 yrs GC and chlamydia )
-Doxy and ceftriaoxne RX
> 35 yrs/ anal sex enterobacteria
- Rx floroquinolones
Sudden onset of pain in the testicle w/ no relief w/ elevation
medical emergency need to manually untwist or surgical intervention
Undecended testicles called?
High risk of?(2)
Cryptochorchidism, usually unitlaeral
increased risk of
-germ cell tumors
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
Most common testicular tumor affecting males 15-30
Fried egg appearance - large cells w/ watery cytoplasm
Yellow mucinous tumor in a 3 year old male from his testie is?
Yolk sac tumor
Schiller Duval bodies found in?
yolk sac tumors
- resemble primitive glomeruli
High hCG seen in this testicular tumor
- may also see in teratoma and embryonal carcinoma
disordered synctiotrophoblasts and cytotrophoblasts
hematogenous METS to the lung
glandular papillary morphology seen in a testicular tumor that was very painful
- worst prognosis
may secrete - hCG
NORMAL - AFP if pure (increased if mixed)
multiple tissue types seen in a testicular tumor
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
excess estrogen tumor in males
Testicular tumor in a older male
Common causes of Sexual dysfunction (3)
3 specific examples of each category except for 1
Severe drug -drug concern w/ sildenafil and what drug?
Other Side effects?(4)
Nitrates -> hypotension
blue green color blindness
Other uses of sildenafil
also primary pulmonary HTN
Bowen disease is?
grey solitary crusty plaque on the shaft of penis
Squamous cell Carcinoma
Erythroplasia of Queyrat
red velvety plaque on the glans of the penis
multiple reddish brown papules -
-No risk of Squamous cell
Due to ?
inflammation of the glans of the penis
Often due to candida
- also increased risk w/ DM and uncircumcised
BPH is most commonly found where
Hyperplastic or hyperplasia?
periurethral in the lateral and middle lobes
Not felt in DRE
modest PSA increase
Moderate increase in PSA and nodular felt on posterior lobe w/ DRE?
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
Rx for prostrate cancer
dysuris, frequency, urgency and low back pain suspect in a male
3 types of estrogen
- where are they found?
- Most potent
Estrone - males/females from peripheral aromatase
estradiol* - females from ovaries
estriol - from placenta
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
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)
Follicle -> corpus lutem
-> progesterone and estrogen suppressing LH and FSH until dies 2 weeks later
Positive effect estrogen on heart
increased HDL and decreased LDL
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)
Role of estrogen(5)
growth of follicle
secondary sex characteristics
up regulation of estrogen receptors
increases transport proteins
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
> 35 day cycles
<21 day cycles
irregular frequent periods
think of the metro
-irregular and frequent periods
brief pain felt w/ ovulation (mid cycle pelvic pain)
Usually brief 5 min
can mimic appendicitis
when does a women's basal temp go up in a cycle and due to what hormone
24 hrs after ovulation due to progesterone
Fertilization most often occurs where and when
upper end of the fallopian tube
1 day after ovulation
When does implantation of trophoblasts occurs?
Can detect beta hCG in Serum?
6 days after fertilization
blood - 1 week
urine -2 weeks (post missed period)
Beta HCG is similar to what other hormones(3)
-similar alpha units
only differs w/ the beta
Which hormones increase throughout pregnancy? (3)
beta hCG peaks at first than drops then has a later peak before tapering off and inducing labor
lactation is due to what hormone change
decrease in progesterone, need to get rid of the placenta (
Suckling increases the production of what hormones? (2)
prolactin - milk lactation and lower reproductive function
Oxytocin- bonding and milk letdown
after the corpus luteum in 6 weeks, progesterone primarily is derived from?
synctiotrophoblasts of the placenta
Hormone most directly responsible for ovulation
Due to building estrogen induced positive feedback
Contraindications for OCPs? (3)
smokers > 35
migraines w/ aura
history of estrogen dependent tumor
Why does OCP help w/ acne
increases steroid binding proteins in the liver leading to less testosterone
Complications of OCPs
Hypercoaguable state (DVT risk)
Rarely weight gain
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
Why is progesterone given w/ estrogen replacement therapy
Unopposed estrogen -> increased endometrial CA risk
Indications for Hormone replacement therapy in women (2)
Hot flashes and vaginal atrophy
Not osteoperosis - use bisphosphates
what can't a smoker over the age of 35 have
Increased FSH, also LH and GnRH
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
diffuse painless feeling of sitting on an egg or protrusion in a female?
enterocele - small intestine
spasm of the vaginal wall w/ touch leading to pain
burning at the opening of the vagina
- psych, trauma of infection may be the cause
positive desmin stain and spindle shaped cells seen in a tumor in a female less than 4
Sacroma botryoides - rhabdomyosarcoma
viral products of HPV leading to CIN and VIN (2)
E6 degrades p53
E7 -inhibits Rb suppression
enlarged dark nuclei w/ perinuclear clearing
koilocytes in HPV
lateral invasion that can block the ureters is a rare complication of this carcinoma
invasive cervical carcinoma
- usually squamous cell
most common tumor in women
Most common gynecologic malignant CA in women worldwide
Most common gynecologic malignant CA in women in the US
Pathology also found
endometriosis of the ovary
also found in the peritoneum
Symptoms of endometrious (4)
perimenopausal pain (1 week before)
pain w/ intercourse
pain w/ defication
Blood in stool or urine
danazol - historical
Perimenopausal pain w/ enlarging uterus
endometial tissue in the myometrium
Diagnosis is by Rx - hysterectomy
Highly suggestive of?
Pain w/ intercourse
Smooth muscle w/ endometrial tissue and sawtooth pattern
excess unopposed estrogen leads to these 2 issues
Gynecological cancer with the worst prognosis?
Found so late it METS
Clinical manifestation of postmenopausal bleeding or menorrhagia/metorrhagia after 35?
Increased risk w?(3)
endometrial hyperplasia -> endometrial carcinoma
Hormone replacement therapy
Risk Factors for endometrial carcinoma?
Obesity - (increased aromatase action)
late menopause/early menarche
Whorled pattern of smooth muscle that is well circumscribed
Symptoms of leiomyoma (4)
Abnormal uterine bleeding
Bulky irregularly shaped gynecological tumor w/ areas of necrosis
risk of recurrence?
HIGH, same as w/ leiomyoma but have no relation (de novo)
Mitotic spindle and desmin + tumor w/ a high rate of recurrence tumor that is very aggressive in 20-40 yr old black female
What circumstances may you see a high LH (4)
androgen insensitivity syndrome
A patient w/ PCOS is most at risk for developing what cancer?
What is the underlying cause of PCOS?
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)
Symptoms of PCOS (3 main) (4 associations)
cysts on US
->increased androgens w/ high LH
->Increased estrogen (aromitization)
->decreased FSH (neg feedback)
Test for premature ovarian failure
under 40 yrs should be normal
Most common cause of anovulation ?
Obesity ( high estrogen from aromatase)
Useful drug in infertility Rx
-partial estrogen agonists
ovarian hyperstim and enlargement
GI and Breast ∆
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
progesterone only birth control
hemorrhage of a blood vessel into a persistent corpus luteum
hemorrgagic corpus luteum cyst - usually self resolving
ovarian torsion more often in (2)
ovarian cysts -> ovary > 5 cm
Useful ovarian CA marker to follow
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
4 Main types of ovarian tumors
6 main types of epithelial ovarian cancers
SERious Menstrual ENemies CLEARly BRing MIsery
Serous (cystadenoma or cystadenocarcinoma)
Mucinous (cystadenoma or cystadenocarinoma)
Clear Cell Adenoma
4 main type of ovarian germ cell cancers
3 main type of stromal/sex cell ovarian CA
Sheets of uniform cells found in a ovarian CA that is secreting hCG and LDH
often associated w/
Ovarian tumor where chorionic villi are not present and high secretion of b hCG
risk of spread where?
to the lungs
Yellow friable mass of a ovarian tumor w/ Schiller Duval bodies (little glomeruli)
Yolk sac tumor
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
a type of mature teratoma that contains functional thyroid tissue
Ovarian tumor resembling a fallopian tube (ciliated) and is frequently bilateral
Psammoma bodies seen in this ovarian CA
benign intestine like tissue w. mucous secreting epithelium seen on pathology of a ovarian tumor
intraperitoneal accumulation of mutinous material from ovarian tumor is called?
- looks like an intestinal adenoma
ovarian tumor defined by transitional epithelium and coffee bean nuclei
looks like a bladder
Meigs syndrome is what?
Associated w what ovarian tumor that is describes as pulling sensation in the groin?
hydrothorax (pleural effusion)
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
disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions pathology term
Call exner bodies
seen in granulosa theca cells
GI METS to the ovary
mucin secreting signet cell adenocarcinoma
GI METS to the ovary
Seen on path?
mucin secreting signet cell adenocarcinoma
Rare ovarian tumor leading to viralization
Can get quite large
adenocarcinoma that is a epithelial ovarian tumor
looks like endometrium
Maternal contribution to the placenta?
stem cell precursor of the placenta vs the b HCG secreter portion
cytorophoblasts contain stem cells
Syncytiotrophoblasts are the outer layer -> b hCG
Gravida vs Parity
Gravida is number of pregnancies
Parities in # of deliveries > 20 wks
Umbilical cord is made of
2 uterine arteries from the internal iliac arteries
1 uterine vein -> ductus venosis and IVC
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
vesicourachal diverticulum is
outpouching of the bladder
Meconium discharge from the umbilicus due to?
vitilline fistula (connected the midgut to the yolk sac)
partial closure of the vitelline duct is called?
melana, periumbilcal pian and ulcer
number of chorions and amnions w/ twinning?
Dizygotic always has 2
-Split at 0-4 days: dichorionic/diamniotic
-Split 4-8 days (morula): monochorionic/diamniotic
-Split 8-12 days (blastocyst): monochorionic/monoamniotic (aka sharing everything)
Change in CO and plasma volume with pregnancy?
Other changes? (4)
CO increases 30-50%
Plasma volume increases 50%
respiratory alkalotic w/ hyperventilation
increased prolog factors
peripheral insulin resistance
human placental lactogen released in pregnancy leads to?
want to get nutrients to the baby
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
lecithin sphringomylein useful indicator of what?
lung maturity > 2.0
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
AFP can be increased in pregnancy screenings for what 3 complications
neural tube defects
abdominal wall abnormalities
improper dating also
Decreased AFP and estriol w/ increased hCG during maternal screen is indicative of
Decline in all 3 indicators ( AFP, hCG and Estriol) indicative of
Placenta previa presentation
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
fetal blood vessels cover the cervix
Risk of fetal hemmohage
Lower than expected hCG for dates and sudden lower abdominal pain
- infertility Hx
-IUD IF manages to get pregnant
Causes of polyhydraminos(3)
anecephaly - lack of swallowing reflex
Causes of olighydraminos (3)
bilateral renal agenesis (potters syndrome)
poterior urethral valves)
not enough fluid in the placenta that can be due to bilateral renal w/
Causes of miscarriage (6)
chromosomal anomalies - spontaneous trisomy16***
poor mother heath
Gestational diabetes is due to ?
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
Type I or II DM risk in addition to what normally is seen in gestational diabetes(3)
- congenital heart defects
-nerual tube defects
-caudal regression syndrome
in addition to usual stillbirth and miscarriage risk
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)
Painful bleeding in 3rd trimester
premature detachment of the placenta
- life threatening
Ischemia - Cocaine, smoking and HTN
presentation of a pregnant mother in the 3rd rimester w/ anemia, jaundice, RUQ pain and bruising
Think of HELLP, often associated w/ preeclampsia
elevated liver enzymes
Magnesium sulfate IV
Watch for low DTR, pulmonary edema, altered mental status, cardiac conduction defect
Definition of preeclampsia (3)
hypertension(>140/90 by 20 weeks)
eclampsia w/ seizures
uterus larger than expected for dates as well as very large beta hCG with HTN before 20 wks - think of
Complete hydroform mole
abnormal bleeding w/ honeycomb or snowstorm appearance on ultrasound think of
hydroform mole - complete of not
Choricarcinoma if it is a complete mole
Difference between complete and incomplete hydroform mole
-XX or XY w/ empty egg fertilized
-15-20% malignant tophoblast
- HIGH b hCG
-XXY, XXX w/ egg
- fetal parts
Common tocolytics (4)
Common meds to induce labor(3)
Misoprostol - PGE1
Dinoprostol - PGE2
Chemically induce an abortion and MOA
Mifepristone (RU 486) - competitive antagonist of progesterone
Misoprosterol - stimulate uterine contraction and expelling
Drugs given in Mothers W/ HTN (3)
Drug given to mothers w/ hyperthyroidism
1st trimester propylthiouracil
methmazole after teratogen period
Epilepsy concerns w/ a Mother and what medication changes do we consider (2)
Take of valproic acid if on it
INCREASE folic acid
atrification L ventricle of the heart is associated w/ what drug
Lithium in Mothers
Why is increased folic acid especially important w/ epilepsy patients
Taking medications that may lead to neural tube defects
Valproic acid is especially harmful
Gene linked to Fragile X syndrome and function of that gene
(X linked -> men predom)
- trinucleotide repeat disorder
cytoplasmic protein the in brain and testes -> mRNA production of axons and dendrites
Symptoms/presentation of fragile X Syndrome(5)
What cardiac feature?
Mitral valve prolapse
Lab test of Down syndrome w/ 2nd semester quad screen
AFP - Down
b hCG - UP
estriol - Down
Inhibin A - UP
Lab test of Edwards syndrome w/ 2nd semester quad screen
b hCG DOWN
inhibin A - Normal
Lab test of Patau syndrome w/ 2nd semester quad screen
1 st trimester may see decreased b hCG and PAPP A
Nuchal translucency seen in (3)
2 diseases of higher prevalence in Down Syndrome
Presentation of Down Syndrome (7)
2 specifically to look out for later complications right after birth?
prominent epicanthal folds
gap between 1st 2 toes
congenital heart disease*(endocardial cushion - VSD w/ crest cell migration failure)
Downs may be caused by (3)
Advanced maternal age -> meiotic nondisjunction
Severe mental retardation, rocker bottom feet, micrognathia, low set ears and prominent occiput
Severe mental retardation, rocker bottom feet, microcephaly, cleft lip, holoprosencephaly, polydactyl
- failure of the Sonic gene w/ holoprosencephaly
severe mental retardation, high pitched crying, and microcephaly due to?
microdeletion on chromosome 5
Cri-du chat syndrome
Williams Syndrome is characterized by?(5)
Will Farrell in ELF
microdeletion on chromosome 7
increased verbal skills
hypercalcemia w/ Vit D senstitivity
22q11 deletion characterized by
CATCH-22, failure of 3 and 4th pouch
Hypocalcemia (no parathyroids)
Digeorge most common
2 types of 22q deletion presentations
- cardiac defects
Klinefelters syndrome characterized by?(5)
XXY males w/
gynectomastia, long torso, testicular atrophy(hypogonadism), w/ infertility
Barr body (XX)
High FSH due to decreased inhibit (seminiferous tubules messed up)
Turner syndrome characterized by?
OX female that is short w/ broad chest cystic hygroma (webbed neck), streak ovaries
FSH is high
due to LOW estrogen
Cardiac concerns w/ turners syndrome (2)
Bicuspid aortic valve
Coarctation of the aorta
Also has a horseshoe kidney
biggest cause of primary amenorrhea
turner syndrome, need to R/o
Autosomal Dom Diseases(13)
Familial adenomatous polyposis
osler weber Rendu
Multiple endocrine neoplasm
von Hippel Lindau disease
advanced paternal age is associated w. this defect in FGF receptor 3 leading to
ADPKD associations beyond the kidney(3)
Which is always bilateral
mitral valve prolapse
polycystic liver disease
Adematous polyps after puberty due to ?
Familial adenomatous polyposis - AD
Chromosome 5 carrying the APC gene
Gardening polyps and masses all over
polyps in the colon, osteomas, lipomas, sebaceous cysts
Related to FAP
Familial hypercholesterolemia is due?
defective or absent LDL receptor leading to increase in LDL.
Kid in their 20s presenting w/ an MI think of
May also have xanthomas
Osler weber rendu is
disorder of blood vessels, AD
(also called hereditary hemorragic telangiectasia)
telangiectasia, recurrent epistaxis, skin discoloration (bruising), arteriovenous malformations
Spheroid lymphocytes and increased MCHC are both found in ?
Hereditary spherocytosis (AD)
hemolytic anemia in the spleen by macrophages
ankyrin and spectrin -> increased concentration of Hg relative to size
spectrin and ankyrin are defective in ?
Test for it?
osmotic fragility test
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
Huntingtons gene is located on
Chromosome 4, Auto Dom
trinucleotide repat CAG
Often presents around 40
Marfans is due to a defect in ?
Fibrillin 1 gene - Auto Dom
tall and lanky
cystic medial necrosis of aorta -> aneurysm or dissection
floppy mitral valve
subluxation of the lens
subluxation of the lens w/ cardiac abnormalities especially the aortic root?
Marfans - Auto Dom
MEN 1 tumors
Medullary thyroid carcinoma
RET mutation - Auto Dom
Medullary thyroid carcinoma
RET mutation - Auto Dom
Neurofibromatosis 1 is found on chromosome?
Presentation of NF1 (4)
cafe au lair spots
Lisch nodules (pigments iris hamatomas)
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
NF2 mutations is found on chromosome?
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
Tuberous sclerosis inheritance
incomplete penetrance -> variable presentation
Von hippel lindeau findings? (3)
Associated w/ 50% of the time w?
bilateral renal cell carcinomas
Auto dom disease
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
Trinucleotide repeat diseases(4)
Anticipation means (2)
in future generations either have:
decreased age of onset
Auto Recessive disease(10)
glycogen storage diseases
mucopolysacharidosis (except hunters)
sickle cell anemia
sphingolipdoses (except Fabrys)
X linked disorders
Oblivious Female Will Give Her Boys xLinked Disorders
Lesch Nyhann syndrome
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
Presentation of CF in an infant(3)
fatty stools/ FTT (pancreatic def)
Complications of CF
infertility in males
Fat soluble deficiencies (FTT)
Rx for CF(3)
Floroquinolones for Pseudomonas
Defect in alpha galactosidase will lead to?
2 X linked storage diseases
Fabrys and Hunters
Defect in glucocerebrosidase will lead to?
Defect in Sphingomyleinase will lead to?
Niemann Pick Disease
Defect in Hexoaminidase A will lead to ?
Defect in Galactocerebrosidase will lead to?
Defect in arylsulfatase A will lead to ?
Defect in alpha L iduronidase will lead to?
Heparan sulfate and dermatan sulfate (same as Hunters)
Defect in iduronate sulfatase will lead to ?
Hunters Syndrome (X Linked)
Accumulate Heparan sulfate and dermatan (Same as Hurlers)
Fabrys disease presents w?(3)
Pain and peripheral neuropathy
-Alpha galactosidase def
Gauchers disease presents w?(3)
*aplastic necrosis of femur
*macrophages look like tissue paper(Gaucher cells)
Niemann Picks Disease presents w?(4)
Hepatosplenomegaly ** (tay sachs)
Cherry spot on macula
Tay Sachs disease presents w?(3)
NO hepatosplenomegaly (Nieman PicK)*
death by 4
defect in hexosamindase A
Krabbe Disease presentation?(4)
Similar to ?
(Myelin sheath disorder ->)
defect in galactocerebrosidase
Metachromic leukodystrophy presentation? (5)
progressive vision loss
Arylsulfatase A defect
Similar to Krabbe Disease
Hurlers syndrome Presentation? (4)
Same class as?
Gargoylsm (short/coarse facial features)
corneal clouding* (not in hurlers)
defect in alpha L iduronidase
Hunters syndrome presentation
Same class as?
Mild hurler's syndrome +
NO corneal clouding* (Hurlers)
Defect in iduronate sulfatase
Same class as Hurlers
Causal agent of mastitis
Causes of gynecomastia?((4)
hyper estrogen periods - old age, puberty
Benign epithelial lesions of the breast
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
Benign breast tumors (3)
most common tumor under the age of 35
small mobile firm mass
∆size and tenderness perimenstration
Most common cause of breast discharge in a female
Bloody or straw colored, unilateral.
Large bulky mass w/ leaf like projections in the breast
Risk of CA?
Risk factors for breast CA (3)
increased estrogen exposure
-lack of breast feeding
-older 1st child
Common location of breast CA and biggest indicator of prognosis
Upper outer quadrant
lymph node involvement
Erb2 codes for?
HER 2 receptor
an EGF growth factor the is over expressed on some Breast CA
Targeted w/ Trastuzunab
Most common breast mass in post menopausal women
invasive ductal carcinoma
most common breast mass in pre menopausal women
Most common form of breast cancer
invasibe ductal carcinoma
Signet ring cells (2)
lobular breast CA
Kruckenberg tumor (GI-> ovary)
Loss of e cadherin adhesion on chromosome 16 is seen in
always ER + and PR positive breast CA
Risk of Tamoxifen use?(2)
Blue dome cyst in breast
Subtype of DCIS w/ caseous necrosis
Also - solid, cribiform, papillary, micropapillary
Invasive ductal carcinoma characterized by?
firm fibrous, rock hard mass that is immobile,
Most common invasive breast tumor to become bilateral?
ER + and PR +
signet cell ring
INflammatory changes in a breast means what is going on?
Dermal lymph involvement of invasive CA
pleu d' orange(dimpling), nipple inversion,
Eczematous patch on the areola and breast?
Concern of Pagets disease and underlying DCIS
large cells in the epidermis w/ clear ahlo
Fleshy, cellular lymphocytic infiltrate of the breast?
SERMS used in breast CA? (2)
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