Repro Flashcards
Shh
produced at base of limbs, involved an AP axis
- CNS development, defect –> holoprosencephaly
Wnt-7 gene
important at distal end of developing limb
- necessary for dorsal-ventral axis
FGF gene
- stimualtes mitosis of underlying mesoderm
- lengthening of limbs
Hox genes
- they code for transcription regulators that are important in cranial-caudal organization
neural tube closes
week 4
mesodermal defects - VACTERL
-vertebral, anal atresia, cardiac defects, T-E fistulas, renal defects, limb defects
teratogenicity of ACEi
renal damage
teratogenicity of aminoglycosides
CN VIII tox
teratogenicity of carbamezapine
NT defects, craniofacial defects, fingernail hypoplasia, DD, IUGR
teratogenicity of Lithium
Ebstein anomaly
teratogenicity of phenytoin
fetal hydantoin syndrome: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, intellectual disability
teratogenicity of tetracyclines
discolored teeth
thalidomide
causes limb defects
valproate teratogenicity
neural tube defects
maternal diabetes effect on infant
caudal regression syndrome (anal atresia to sirenomelia), congenital heart defects, neural tube defects
1st aortic arch derivative
maxillary artery
2nd aortic arch derivative
stapedial artery and hyoid artery
3rd aortic arch derivative
common carotid and proximal ext carotid
C = 3rd letter of alphabet
4th aortic arch derivative
L- aortic arch, R - subclavian artery
6th aortic arch derivative
pulmonary arteries and ductus arteriosus
branchial apparatus derivatives
CAP
- cleft - ectoderm
- arch - mesoderm
- pouch - endoderm
branchial cleft derivatives
- the 1st becomes the external auditory meatus, and the rest obliterate
- can get a brachial cleft cyst within the lateral neck if they do not obliterate
1st branchial arch derivatives
- Meckel’s cartilage: Mandible, Malleus, incus, spheno-Mandibular ligament
- Muscles of Mastication, mylohyoid
- V2 and V3 innervation
2nd branchial arch derivatives
- Reichert cartilage: Stapes, Styloid process, Stylohyoid ligament
- muscles of facial expression, stapedius, styloid , platySma
- CN VII
3rd branchial arch derivatives
- hyoid cartilage
- stylopharyngeus muscle
- glossopharyngeal nerve
4th-6th branchial arch derivatives
- thyroid, cricoid, arytenoid cartiledges
- 4th does pharyngeal constrictors, 6th does all intrinsic muscles of larynx except cricothyroid
- 4th innervated by superior laryngeal branch of CNX, 6th by recurrent laryngeal branch
1st branchial pouch derivatives
- middle ear cavity, eustachian tube, mastoid air cells
2nd branchial pouch derivatives
- epithelial lining of palatine tonsil
3rd branchial pouch derivatives
- dorsal –> inteferior parathyroids
- ventral –> thymus
4th branchial pouch derivatives
- dorsal –> superior parathyroids
male genital embryology
- SRY gene produces testes determining factor –> testes
- sertoli cells secrete Mullerian inhibitory factor (suppresses paramesonephric duct)
- leydig cells secrete androgens to stimulate development of mesonephric ducts
sertoli cell deficiency
male and female internal genitalia, male external due to normal DHT
5 alpha reductase deficiency
male internal genitalia (because sertoli cells suppress female) but ambiguous external until puberty
sertoli cell function
- secrete inhibin (inhibits FSH)
- secretes androgen-binding protein - maintains local levels of testosterone
- tight junctions prevent AI attack of gametes
- regulates spermatogenesis
- secretes MIF in development
- temperature sensitive
leydig cell function
secrete testosterone in response to LH
theca cell function
converts cholesterol to androstenedione in response to LH
granulosa cell function
converts androstenedione to estogens (via aromatase) in response to FSH
Tanner Stages
I - prepubertal
II - pubic hair appears, breast buds form
III - pubic hair darkens/becomes curly, penis lengthens, breasts enlarge
IV - penis widens, darker scrotal skin, development of glans, raised areolae
V - adult, flat areolae
oogenesis
- arrested in prophase of meiosis I until ovulation
- then arrested in metaphase of meiosis II until fertilization
human placental lactogen
secreted by the syncytiotrophoblasts and increases maternal insulin resistance so that blood sugar stays high for baby
- this is the cause of gestational diabetes
hCG functions
- maintains the corpus luteum in the first trimester
- hCG is increased in multiple gestations, Downs, and moles/choriocarcinoma
Klinefelter Syndrome
- XXY
- testicular atrophy, euchnoid body habitus, tall with long extremities, gynecomastia, female hair distribution
- developmental delay
- decreased inhibin and testosterone leads to increased FSH and LH
Turner Syndrome
- dont forget about the cystic hygroma (post neck mass with cystic spaces separated by connective tissue)
- can result from mitotic or meiotic error
aromatase deficiency
cannot synthesize estrogens from androgens
- masculinization of female infants, increased testosterone and androstenedione
- can have maternal virilization during pregnancy
5a reductase deficiency
- cannot convert test to DHT
- normal male internal sex organs, ambiguous external genitalia until puberty
- test/est normal, LH normal or increased
Kallman syndrome
- mutation in Kal-1 gene or fibroblast growth factor receptor-1 gene
- defective migration of GnRH cells
- anosmia, hypogonadism, +/- midline defects, delayed puberty
Complete Mole
46 XX or XY, all paternal
- one sperm, empty egg
- significantly increased bHCG, can convert to trophoblastic disease
- vaginal bleeding, enlarged uterus, pre-eclampsia, hyperemesis, hyperthyroidism
- “cluster of grapes” and “snowstorm”
Partial Mole
XXY or XXX
- high/normal bHCG, uterus is normal size, there ARE fetal parts
- 2 sperm + 1 egg, low risk of malignancy
- presents with vaginal bleeding and pain
HPV 16 and 18 mechanism of causing cancer
E6 gene product inhibits p53
and
E7 gene product inhibits Rb suppressor gene
endometritis organism/treatment
bacteroides is most common
- treat with gent + clinda
PCOS
- amenorrhea/oligomenorrhea, hirsuitism, acne
- associated with obesity and endometrial cancer
- treat with weight reduction, OCPs, antiandrogens
- give clomiphene citrate for infertility (SERM that blocks negative feedback of circulating estrogen)
- increased LH and FSH, LH:FSH 3:1
mature cystic teratoma (dermoid cyst)
- germ cell tumor in women 20-30 years old with all 3 germ layers
- can present with pain 2/2 torsion if they get large
- can contain functional thyroid tissue - struma ovarii
- 10% bilateral
Brenner tumor
- looks like bladder (urothelium)
- solid tumor that is pale yellow-tan in color and appears encapsulated
- “coffee bean” nuclei on H+E stain
Fibromas
- bundles of spindle-shaped fibroblasts, pulling sensation in groin
- associated wtih Meigs syndrome - ovarian fibroma, ascites and pleural effusion
granulosa cell tumor
- produce estrogen and/or progesterone
- present with estrogen excess at various ages
- Call-Exner bodies
dysgerminoma
most common in adolescents
- “fried egg” cells, hCG and LDH are tumor markers
choriocarcinoma
- rare, malignant trophoblastic tissue with no chorionic villi
- abnormal bHCG, shortness of breath, hemoptysis
- hematogenous spread to the lungs, very responsive to chemotherapy
yolk sac/endodermal sinus tumor
- aggressive in the ovaries or testes in young kids
- yellow friable solid mass
- 50% have Schiller Duval bodies that resemble glomeruli
- AFP is tumor marker
Krukenberg tumor
- GI malignancy that mets to the ovaries
- causes a mucin-secreting signet cell adenocarcinoma
fibroadenoma
- tumor of fibrous tissue and glands
- most common benign neoplasm of the breast, usually premenopausal women
- responds to estrogen
- well-circumscribed mobile, marble like mass
- no increased risk for cancer
intraductal papilloma
- papillary growth into a duct that is characterized by fibrovascular projections lined by epithelial and myoepithelial cells
- presents as bloody nipple discharge in a premenopausal woman
phyllodes tumor
- fibroadenoma like tumor with overgrowth of fibrous component that leads to “leaf-like” projections
- most common in post menopausal women
- can be malignant in some cases
DCIS
- malignant proliferation of cells that doesnt penetrate the basement membrane
- usually presents as calcification on mammo, no mass
- comedocarcinoma is a subtype where cells necrose and calcify (high grade cells with central calcification)
- becomes paget disease when it extends to the nipple (eczematous patches on the nipple with large cells in the epidermis with clear halo)
invasive ductal carcinoma
- firm, fibrous, rock-hard mass with sharp margins and small, glandular duct-like cells
- “stellate” infiltration
- worst and most invasive, most common of all breast cancers
medullary carcinoma
- subtype of ductal carcinoma that is fleshy, cellular with lymphocytic infiltrate
- good prognosis
inflammatory breast cancer
- dermal lymphatic invasion by ductal carcinoma leads to edema and Peau d’orange
- 50% survival at 5 years
invasive lobular carcinoma
- orderly row of cells - single file line due to no E-cadherin, doesnt form ducts
- often bilateral with multiple lesions in the same location
LCIS
- malignant proliferation of cells in lobules with no invasion of basemente membrane
- usually incidental finding because no calcifications or mass
- cells lack E-cadherin
- often multifocal and bilateral
- treat with tamoxifen
acute mastitis
- usually due to staph aureus
- treat with dicloxacillin and keep breast feeding
