repro/embryo Flashcards
what embryonic function of these genes + specific malformations from mutations if applicable SHH Wnt-7 FGF gene HOX gene
SHH = AP-axis growth + CNS -holoprosencephaly Wnt-7 = ectoderm growth at distal end of limbs + dorso-lat growth FGF-gene= fetus grow fingers x–> short limbs HOX= craniocaudal growth x= appendages in the wrong location
what are the highlights of activity that happen in wk 1-8+wk 10 of embryogenesis
wk 1= blasto’cyst’ ‘sticks’ at day ‘six’ -blastocyst implats and begins secreting hCG, pregnancy is detectable at day 6 wk 2= bilaminar disk (2 layers) wk 3= gastrulation (3 layers form) -form primitive streak (which will give rise to all 3 layers) -mesoderm -> notochord (music=mess of notes and chords) -ectoderm= neural plate (plate for eggs) -neural tube formed by neuroectoderm (future CNS), closes by wk 4 wk 4= 4 limb buds, heart begins to beat (bc have 4 heart chambers) wk 6= fetal cardiac activity visible by transvaginal US wk 10= genitalia have M/F characteristics -TENitalia
derivatives of
- ectoderm
- (3) types
- mesoderm
- +mnemonic for defects
- endoderm
- ectoderm
- surface ectoderm = rathke puch, lens, ear sensory organs, parotid+sweat+mammary glands, hair, skin, and nails
- neural tube –> neuroectoderm = SC+brain
- neural crest – MMOtEL PPASS
- Melanocytes, Myeteric plexus, Odontoblasts (teeth cells make dentin), Endocardial cushions (septums of heart), Laryengeal cartilage, Parafollicular C cells in thyroid, PNS (dorsal root ganglia, CNs, autonomic ganglia), Adrenal medulla, Spiral membrane (x–>TOF, TGA, tricuspid atresia, abn pulm venous connections), Schwann cels,
- +pia, arachnoid, endocraniam bones + facial bones
- Mesodern
- CV structures, lymphatics, blood, spleen
- adrenal cortex+kidneys
- upper vagina, testes, ovary
- perotineum, pleura, percardium, dermis
- (notochord–>) nucleus pulposus
- defects –> VACTERL
- Vertebral defects, Anal atresia, Cardac defects, Tracho-Esophageal fistula, Renal defects, Limb (bone and M) defects
- endoderm
- digestive tract (esophagus, stomach, SI+LI), most of urethra and ENd of vagina
- ENside luminal (epithelial) lining of lungs, liver, GB, pancreas, eustachian tube, thymus, parathyroid, thyroid follicles
what are the contents +purpuse of the umbilical cord
umbilical cord connects fetus to placenta (aka nutrient and blood supply)
contains wharton jelly, allantoic duct, ONE umbilical V, and TWO umbilical As
POV=fetus
- 2 As: 2 leave the fetus to placenta, take away deox
- 1 V: enter fetus w ox
branchial cleft derivatives
defects –> ?
1st= external auditory meatus
- defect= pre-auricular cyst/fistula
2-4th= obliterated
- persist = cervical cyst/fistula along anterior SCM border
branchial arches w associated deived CN /function
1st arch = CNV3 –> chew
2nd arch= CN VII –> smile
3rd arch= CN IX –> stylopharyngeus for swallow
4th arch= CN X superior laryngeal branch = swallow Ms
6th arch = CN X recurrent laryngeal branch = speak
what teratogenic effects can be seen w
- ace-inhibitors/ ARBs
- warfarin
- lithium
- isotretinoin
- thalidomide
- diethystilbestrol
- methimazole
- ace-inhibitors/ ARBs
- if taken in Tri2/3 –> oligohydramnios –> renal failure, Potter’s syndrome w pulm/limb/skeletal ab
- warfarin
- classic= stippled epiphyses @ x-ray
- vision loss, nose/limb hypoplasia
- fetal hemorrahge or abortion
- lithium
- Ebstein’s anomaly = apical dsiplacement of the tricuspid valve
- isotretinoin
- (Vit A derivative- used to treat acne) : need to give with birth control
- 20%–> SAB: low wars, wide eyes, hydrocephalus
- thalidomide
- old drug: –> flipper limbs (small, abn shape)
- diethystilbestrol
- “DES” used in 50s
- cause genital defects in F babies: hypoplastic uterus/cervix, infertility, persstant mullerian tissue, vaginal clear cell adenocarcinoma
- methimazole= used for hypothyroid
- aplasia cutis congenita= patches of no epithelium (skin or hair growth) on the fetal head : hypothyroid in baby
- used in TRi 2/3 bc so effective (use PTU in Tri 1 bc safer)
which drugs are teratogenic because of their effect on folate/folic acid levels
what are the effects seen
neural tube defects : give folate supplements (high dose if mom on these meds)
–antiepileptics
- valproic acid (esp ^^ levels of neural tube defects)
- carbamezapine, phenobarbital
- phenytoin –> fetal hydantoine syndrome ==> microcephaly + cleft lip/palate (+broad/short nose, wide spread eyes, malformed ears)
–folate antagonists
- trimethoprim (an abx)
- methotrexate = x folate metabolism, induceses abortion, used in RA and anti-CA
what chemo drugs are especially teratogenic: what CA is known to arise during pregnancy
Hodgkin lymphoma is known to appear during pregnancy- defer chemo trx till after birth if can, at least Tri 2/3
highest risk =
- alkylating agents (cyclophosphamide, ifosfamide, busulifan) –> classically present as missing digits
- antimetabolites
- methotrxate, 5-FU, hydroxyurea, azathioprine, 6-mercaptopurine, cyterabine, gemicitibine
which abx have teratogenic effects
- aminoglycosides (gentamycin, tobramycin, plazomicin)
- ototoxicity (A mean guy heat the baby in the ear)
- tetracycline= doxycycline, tetracycline
- discolored teeth (teethracycline)
- flouroquinolones (-floxacin)
- fetal cartilage damage
- trimethoprime
- folate defieincy –> neural tube defects
- sulfanomides = sulfasalazine, sulfasoxazole, sulfadiazile, zonisamide, trimethprim/sulfamethazole
- kernicterus (displace bilirubin–> permanent brain damage secondary to bilirubin build up post-birth
describe the teratogenic effect of
- alcohol
- cocaine
- smoking
- mercury
- iodine (lack or excess)
- vit a excess
- x-rays
- maternal PKU
- maternal DM
- alcohol –> failure of cell migration
- tri 1= abn face/brain/heart structure : tri 3= small baby/brain
- intellectual disability
- fetal alcohol syndrome= leading cause of intellectual disability in US
- `small brain structures (abn reflexes, hypotonia, CN deficits, dec IQ) –severe–> holoprosencephaly
- face: short palpebral fissures (eye openings), smooth philltrum (nose to lip spot): thin vermillon (upper lip)
- heart-lung fistula; ASD, VSD, ToF
- cocaine
- vasoconstriction –> low birth weight/IUGR/preterm : placental abruption
- smoking –> low O2 delivery to baby
- nicotine–> constriction –> xplacental BF
- carbon monoxide –> dec mom (Hgb-O)
- ==> IUGR, inc risk SIDS, ADHD, placental abruption/previa/premature rupture
- mercury
- found in fish, king mackeral shark not cooked
- –> neurotoxicity w delayed milestones, rarely lead to blindness/deafness/cerebral palsy
- iodine (lack or excess)
- congenital goiter/hypothyroid
- vit a excess (w megadose)
- high risk SAB,
- cleft palate
- microcephaly,
- x-rays
- minimize w lead shielding: microcephaly, inc risk between wk 8-15
- maternal PKU
- if mom takes phenylalanine, check serum levels
- too much = teratogenic –> IUGR, microcephaly, intellectual retardation, coarctation of aorta, hypoplastic L heart defect
- maternal DM
- macrocephaly (shoulder dystocia): hypoglycemia of neonate (frst 24 hours)
- transposition of great vessels (classic) >>> VSD
- insulin dependent moms ∝ caudal regression syndrome = anal atresia, incompetent sacral development, sirenomelia (mermaid syndrome)
what cells in Ms and Fs are stimulated by LH and FSH and what is the effect/purpose?
MALES
- LH–> Leydig Cells –> make Testosterone
- FSH –> sertolie cells –> make inhibin to negatively regulate the further relase of FSH
- Temp sensitive: dec sperm production and inhbin B release with inc Temp
FEMALES
- LH–> Theca cells–> trigger ovulation (luteal phase) and formation of corpus luteum
- corpus luteum will make progesterone
- FSH–> Granulosa cells–> activate aromatase in granulosa cells to make estrogen = end MENSES, and begin proliferation of endometrial lining
- stimulate devevloping follicle to make estrogen throughout uterine cycle –> endometrial proliferation
what is the role of progesterone?
when are low levels of progesterone seen?
progesterone= pro-gestation
- remain elevated during pregnancy
(prolactin= pro-lactatin)
inc progesterone during ovulation (formation of corpus luteum)
all in progesterione =
- failure of fertilization and corpus luteum death –> menses
- after delivery: falls in progesterone = disinhibition of prolactin –> lactation can occur
outline the phases of the ovarian cycle and how those phases effect the uterine cycle
be specific about which hormones are doing what when
(at what point does hCG come into play)
- ovarian cycle
- –> uterine cycle
- start at follicular phase: inc in FSH>LH stimulates developing follicle to make estrogen
- –> end menses, estrogen boost starts endometrial proliferation
- during follicular phase, estrogen positively feedbacks self: inc estrogen levels –> inc proliferation
-
estrogen surge causes surge in LH>FSH –> set off ovulation, formation of corpus luteum (also slight inc in estrogen bc of FSH) = thus, LH surge directly causes surge in hCG
- –> more endometrial proliferation: corpus luteum produces progesterone–>more estrogen
- the endometrium is ready for implantation
- failure of fertilization –> corpus luteum death
- –> fall in progesterione (+–> fall in estrogen) sets off menses
- endometrial lining is shed
- repeat
*
twins of dif sexes are always dizygotic and mostly __chorionic/__amniotic
for monozygotic same sex twins, division in
0-4 days
4-8 days
8-12 days
13+ days
results in what
dichorionic/diamniotic
0-4 days = dichorionic, diamniotic
4-8 days = monochorionic, diamniotic
8-12 days = monochorionic, monoamniotic
13+ days = conjoined
DiGeorge’s syndrome
CATCH22 =?
which pharyngeal pouches are messed up? what does than mean for LN anatomy
- what other disease will cause hypoplasia of a specific part of the LN? what is the difference?
CATCH 22
- congenital heart ds (esp truncus arteriosis, ToF)
- abn facies
- thymic hypoplasia
- hypoparathyroid –> hypocalcemia
- 22q11 deletion
pharyngeal puches 3+4
- x T cell and dendritic cell formation = hypoplastic paracortex formation (where T cells and DC are)
- –> recurrent sinus infections
vs- agammaglobulinemia ( no B cell formation) –> no primary lymphoid follicle and germinal center formation
what is adenomyosis
- etiology
- population associated w
- sx
- vs endometrial hyperplasia
- PE findings?
- vs PE findings of leiomyomas
- vs PE of endometrial hyperplasia
- = endometrial glandular tissue within the myometrium
- uterine enlargement bc the endometrial glands will continue to respond to hormonal stimulation
- middle aged, parous women
- heavy menstrual bleeding, dysmenorrhea,
- vs endometrial hyperplasia, which shows up w irregular but NOT painful bleeding
- uniformally enlarged uterus: biopsy shows secreatory endometrial glands
- leiomyomas= irregular uterus
- endometrial hyperplasia will cause polyp growth, but NO increase in uterus size
what are the greatest risk factors associated with cervical CA
- HPV 16/18 (immunosupp)
- hx of STD
- early onset sexual activity
- multiple / high risk sex partners
- immunosuppression
- oral contraceptive use
- low SES
- tobacco use
what drugs are known to cause gynecomastia
“Some Hormones Create Funny Knockers”
Spironolactone
Hormones
Cimetidine (antihistamine/ antacid)
Finasteride (trx of enlarged prostate/hair loss)
Kenoconazole
what is the umbilical cord derived from
what does it contain
from yolk sac and allantois (a hindgut outpouching)
contents
- 2 umbilical As (deox)
- 1 umbilical V (ox)
- allantoid duct (connect fetal bladder to umbilical cord)
- wharton’s jelly
what is the urachus?
what does it become post-utero? what are the consequences of the failure of this transformation?
from allantois: = a duct between the eal bladder and umbilicus
urachus will obliterated and get covered by peritoneum fold –> median umbilical L
- total failure of obliteration = patent urachus = urine discharge from umbilicus
- partial failure to obliterate = urachal cyst= fluid filled cavity lined with uroepithelium between umbilicus and bladder, can become infected
- sight failure of obliteration= outpouching/diverticulum of bladder = vesiourachal diverticulum
what develops from the paramesonephric and mesonephric ducts? what is the other name for each?
-
paramesonephric= Müllerian (patriarchy try to control female structures= to make mom mills)
- internal female structures = EXCEPT OVARIES
- fallopian tubes, uterus, upper portian of vagina
- (lower vaginal comes from the urogenital sinus)
- male remnant= appendix testis
-
mesonephric= wolffians (men are wolves)
- male internal structures EXCEPT PROSTATE
- SEED= seminal vesicles, e*_pididymis, _*e*_jaculatory duct, _*Ductus deferens
- female remnant = gartner duct
what is mayer-rokitansky-kuster-hauser syndrome?
= mullerian agenesis
-can present as primary amenorrhea (lack of uterine develeopment) with fully developed secondary secual characteristics (functional ovaries)
what is the function and structures contained in the follow ligaments
- surgical ligation puts what other structures at rish?
- which are derivatives of the gubernaculum
- suspensory lig
- ovarian Lig
- cardinal Lig
- Round Lig of the uterus
- Broad Lig
- suspensory lig
- ovaries to pelvic wall
- contain ovarial vessels
- **need to ligate the vessels during an ophorectomy to avoid bleeding**
- **at risk of ligating retroperotineal ureter, passing nearby**
- ovarian Lig
- ovary to uterus
- derivative of gubernaculum
- cardinal Lig
- cervix to pelvis
- contain uterine vessels
- ureter at risk of injury when you ligate the uterine vessels for a hysterectomy
- Round Lig of the uterus
- uterine to labia majora
- travels through the inguinal canal
- derived from gubernaculum
- uterine to labia majora
- Broad Lig
- contain uterus, fallopian tubes, round ligaments, and ovaries, will connect to pelvic wall
- =made up of mesosalpinx, mesometrium, and mesovarium
what are the hormonal changes associated with menopause
what are the complications caused by menopause
↑ GnRH –> ↑↑FSH (surge), ↑LH
↓ estrogen
complications: HAVOC
- Hot flashes
- Atrophy of the vagina
- Osteoporosis
- Coronary Artery Dsease
- Sleep Disturbances
what will be the hormonal changes and sex seen in each of the following
- 21 β hydroxylase deficiency
- 11 β hydroxylase deficiency
- 17 ∝ hydroxylase deficiency
- 5 ∝ reductase deficiency
- 21 β hydroxylase deficiency
- ↓ALD, ↓ cortisol, ↑ sex hormones
- salt wasting infant, precocious puberty + virilization
- 11 β hydroxylase deficiency
- ↓ cortisol, ↑ sex hormones
- virilization
- 17 ∝ hydroxylase deficiency
- ↑ ALD, ↓ cortisol, ↓ sex hormones
- XY –> undescended testes : XX = no secondary sexual development
- 5 ∝ reductase deficiency
- low DHT, with incr T (will be peripherally converted to estrogen)
- XY –>ambiguous genitals until puberty (@ which point the T will inc to the point where it can effectively carry out male development)
what are the roles of Testosterone and DHT
T=
- differentiate internal genitalia, growth spurt, voice, epiphyseal plates (via estrogen), libido
DHT=
- early: differentiate penis, prostate, + scrotum
- late: prostate growth, balding, sebaccous gland activity
Klinefelter Syndrome and Turner Syndrome
- genotype
- clin
- hormones/labs
Klinefelter Syndrome
- genotype
- 47 XXY : Barr Body
- clin
- testicular atrophy -tall,long extremities - gynecomastia - F hair distribution
- common cause of hypogonadism, usually come in for an infertility worksu
- hormones/labs
- inc FSH (no seminiferous tubules = no inhibin)
- ↓ T, ↑ LH, ↑ estrogen
Turner Syndrome
- genotype
- 45 XO : no Barr Body
- clin
- short, ovarian dysgenesis, bicuspid aortic valve/ aortic coarctation (dec femoral pulses): webbed neck or cystic hygroma, horseshoe kidney, lymphedema
- hormones/labs
- “menopause before menarche”
- ↓ estrogen, ↑ LH, FSH
vaginitis
what is the clin sx, microbio classification, histo testing and findings, and trx of
- gardnerella
- trichomonas
- candida
- gardnerella
- anaerobic G-rod
- add KOH for a whiff test (+ if get v bad smell bc of amine release)
- trichomonas
- anaerobic, flagellated protozoan parasite
- do a saline microscopy (wet mount)
- candida
- fungus, pseudohyphae
what parts of the male reproductive tract drain into the
- superficial inguinal LNs
- deep inguinal LNs
- aortic LNs
- superficial inguinal LNs
- scrotum
- deep inguinal LNs
- glans penis and superficial inguinal LN
- para-aortic LNs
- testes
the prostatic plexus gives rise to what distal N
the cavernous Ns: carry the para innervation needed to facilitate erection
bilateraly ligation of what As will stop postpartum hemorrhage while maintaining fertility
internal iliac A
- branches of the internal iliac supply the uterus so ligating them will stop the BF and hemorrhage so that you don’t need to do a hysterectomy
- the ovarian As have anastomoses to the uterus that can supply the uterus in the wake of ligation
what three meds can be used for pregnancy termination and what is their MOA
which A should you ligate to stop post-partum uterine bleeding and why that one specifically
internal iliac a
= x uterine A and vaginal A BUT mainain ovarian A = maintain fertility
differentiate between the 5 ulcerating STDs
ovarian tumor w irrgular masses and ascites
histo attached. dx?
serous cystadenocarcinoma - histo shows psammoma bodies
(any ovarian malignancy can present with abdominal distension, pleural effusion, bowel obstructin…
MEIGS SYNDROME= ovarian fibromas + ascites + pleural effusion, present with a pulling sensation in the groin
bowen ds vs bowenoid papulosis
retraction of the breast skin is indicative of what process (in the setting of breast CA)
what is the MOA of leuprolide
most common cardiac abnormalities in DiGeorge
persistant truncus arteriosus > ToF, interrupted aortic arch
what structure connects the placenta to the inferior vena cava in the fetal circulation
