Reproductive Flashcards
Sonic hedgehog gene
Produced at base of limbs in zone of polarizing activity, involved in patterning along anterior posterior axis (base of limbs)
Involved in CNS development
Mutation can cause holoprosencephaly
Wnt 7 gene
Produced at apical ectodermal ridge (distal part of limbs)
Necessary for proper organization along dorsal-vental axis
FGF gene
Produced at apical ectodermal ridge
Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs
Homebox (Hox) gene
Involved in segmental organization of embryo in a craniocaudal direction
Hox mutations: appendages in wrong location
Aortic arch derivatives
1st: Maxillary artery
2nd: Stapedial artery
3rd: Common Carotid/Internal Carotid artery
4th: Aortic arch
6th: Pulmonary arteries
Brachial cleft
Derived from ectoderm, AKA brachial grooves
1st: external auditory meatus
2nd-4th: temporary cervical sinuses (obliterated later by 2nd arch)
Brachial arch
Derived from mesoderm
1st: Mandibles, Muscles of mastication, CN V
2nd: Stapes, styloid, muscles of facial expression, CN VII
3rd: hyoid, stylopharyngeus, CN IX
4th-6th: thyroid, pharyngeal constrictors, CN X
When at the restaurant of golden arch, children chew, smile, swallow, then speak
Brachial pouch
Derived from endoderm
1st: middle ear cavity
2nd: epithelial lining of palatine tonsil
3rd: inferior parathyroids, thymus
4th: superior parathyroids
Sertoli cell deficiency
Lack of mullerian inhibitory factor, loss of inhibition of suppression of development of paramesonephric duct (mullerian duct)
Develops both male and female internal genitalia and male external genitalia
Leydig cell deficiency
Leydig cells secret androgens normally to stimulate the development of mesonephric ducts (Wolffian duct)
Deficiency of leydig cells leads to agenesis of male internal genitalia
5alpha reductase deficiency
Enzyme normally converts testosterone to DHT for development of external male genitalia
Lack of DHT results in internal male genitalia, ambiguous external genitalia until puberty (when testosterone levels cause masculinization)
Infundibulopelvic ligament
Connects ovaries to lateral pelvic wall
Contains ovarian vessels
Cardinal ligament
Connects cervix to lateral pelvic wall
Contains uterine vessels
Round ligament of the uterus
Connects fundus to labia majora
Broad ligament
Connects uterus, fallopian tubes, and ovaries to pelvic side wall
Contains ovaries, fallopian tubes, and round ligament of uterus
Ovarian ligament
Connects medial pole of ovary to lateral uterus
Klinefelter syndrome
XXY male
Testicular atrophy, tall, long extremities, gynecomastia
Dysgenesis of seminiferous tubules (decreased inhibin, decreased testosterone due to deficiency in leydig and sertoli cells)
Aromatase deficiency
Inability to synthesize estrogen to androgens
Masculinzation of female (46 XX) infants (ambiguous genitalia)
Androgen insensitivity (46 XY)
Defect in androgen receptor resulting in normal appearing female
Female external genitalia, but absence of uterus and fallopian tubes
Develops testes, usually need to be surgically removed
Kallmann syndrome
Failure to complete puberty, a form of hypogonadotropic hypogonadism
Defective migration of GnRH cells and formation of olfactory bulb
Decreased GnRH, FHS, LH, testosterone, and infertility
Fibroadenoma
Benign
Small mobile firm masses
Increase size and tenderness w/ increase in estrogen
Intraductal papilloma
Benign
Small tumor that grows in lactiferous ducts (large) typically beneath areola
Increased risk of carcinoma
Phyllodes tumor
Benign
Large bulky mass of connective tissue and cysts
Increased risk of carcinoma
Ductal carcinoma in situ
Noninvasive
Fills ductal lumen, arises from ductal atypia
Early malignancy without basement membrane penetration
Comedocarcinoma
Noninvasive
Subtype of DCIS, central caseous necrosis surrounded by cancer cells
Paget disease of the breast
Noninvasive
Results from underlying DCIS, eczematous patches on nipple
Does not suggest underlying malignancy
Proliferative breast disease
Most common cause of breast lumps
Often present w/ premenstrual pain and multiple lesions (usually bilateral)
Usually does not indicate increased risk of carcinoma
Prostatic adenocarcinoma
Arises most often from the posterior lobe of prostate gland
Prostatic acid phosphatase and PSA are tumor markers
Osteoblastic metastases in bone may develop in later stages, usually indicated by lower back pain and increase in alk phos and PSA
Cryptorchidism
Undescended testis (one or both)
Impaired spermatogenesis (since sperm develop best at temp <37 C)
Can have normal testosterone lvl (normal leydig cells as they are unaffected by temp)
Can have decreased inhibin and increased FH due to dysfunctional sertoli
Associated w/ increased risk of germ cell tumors
Varicocele
Dilated veins in pampininform plexus as a result of increased venous pressure
Most common cause of scrotal enlargement
Most often on the left side 2ndary to increased resistance to flow from left gonadal drainage into left renal vein
Bag of worms appearance
Seminoma
Testicular germ cell tumor, malignant
Painless, homogenous testicular enlargement, most common
Large cells with watery cytoplasma and “fried egg” appearance
Choricarcinoma
Testicular germ cell tumor, malignant
Increased betaHCG
Disordered syncytiotrophoblastic and cytotrophoblastic elements
Hematougenous metastases to lungs and brain
Leuprolide
GnRH analog
Agonist properties when used in pulsatile fashion (up regulate FSH/LH)
Antagonist properties when used in continuous fashion (down regulate FSH/LH)
Can be used to treat infertility (pulsatile), prostate cancer (continuous), uterine fibroids (continuous)
Clomiphene
SERM
Antagonist at estrogen receptors in hypothalamus, preventing normal feedback inhibition and increase release of LH and FSH
Used to treat infertility and anovulation
Tamoxifen
SERM
Antagonist on breast tissue, agonist at uterus
Treat ER+ breast cancer, associated w/ endometrial cancer
Raloxifene
Agonist on bone, antagonist at uterus
Decreased resorption of bone, treatment for osteoporosis
Terbutaline
Beta2 agonist that relaxes the uterus
Used to decrease contractions frequency in women during labor (often for preterm labor to prolong labor and allow for lung maturity with steroids)
Finasteride
5alpha reductase inhibitor (decrease conversion from testosterone to DHT)
Useful in BPH, also promotes hair growth
Flutamide
Nonsteroidal competitive inhibitor of androgen at testosterone receptors
Treat prostate carcinoma
Ketoconazole
Inhibits steroid synthesis
Treat PCOS to prevent hirsutism
Spironolactone
Inhibit steroid binding
Treat hirsutism
Tamsulosin
Alpha1 antagonist, selective for alpha1 receptors found on prostate
Treat BPH by inhibition of smooth muscle contraction
Sidenafil, verdenafil
Phosphodiesterase inhibitor
Causing increased cGMP, which leads to smooth muscle relaxation, including corpus cavernosum, leading to increased blood flow and penile erection
Treatment for erectile dysfunction
Risk of life-threatening hypotension when taking together with nitrates (nitrate breaks down to NO, which causes increased concentration of cGMP)
