reproduction Flashcards
Shh
Produced at base of limbs; important for A/P axis, CNS development (mutation can cause holoprosencephaly)
Wnt-7
Produced at apical ectodermal ridge at the distal limb; necessary for dorsal-ventral axis development
FGF
Produced at apical ectodermal ridge; stimulates mitosis of underlying mesoderm and lengthens limbs
Hox
Segmental organization in craniocaudal direction, codes for TF; mutation leads to appendages in wrong locations
ACE-I
Renal dmg
Alkylating agents
Absence of digits, multiple anomalies
Aminoglycosides
CNVIII toxocity
Carbamazepine
Facial dysmorphism, developmental delay, NT defects, phalanx/fingernail hypoplasia
Diethylstilbestrol
Vaginal clear cell adenoma, congenital mullerian anomalies
Folate antagonists
NT defects
Isoretinoin
Multiple severe birth defects, so contraception mandatory
Lithium
Ebstein anomaly (atrialized R ventricle)
Methimazole
Aplasia cutis congenita
Phenytoin
Fetal hydantoin syndrome (cleft palate, cardiac defects, phalanx/fingernail hypoplasia)
Tetracycline
Discolored teeth
Thalidomide
Flipper limbs
Valproate
NT defects
Warfarin
Bone deformaties, fetal hemorrhage, abortion, opthalmologic abnormalities
Cocaine
Abnormal fetal growth, fetal detection, and placental abruption
Smoking
Low birth weight, preterm labor, placental issues, ADHD
Iodine (both lack and excess)
Congeintal goiter or hypothyroidism (cretinism)
Maternal diabetes
Caudal regression syndrome, congenital heart defects, NT defects
Vitamin A
Spontaneous abortions or cleft plate, cardiac
X-ray
Microcephaly, intellectual disability
Monozygotic twins: splitting timeline
0-4 days: dichorionic, diamniotic; 4-8 days: monochorionic, diamniotic; 8-12 days: monochorionic, monoamniotic; >13 days: conjoined twins
Cytotrophoblasts
inner layer of chorionic villi
Syncytiotrophoblasts
outer layer of chorionic villi; secrets hCG which stimulates corpus luteum to secrete progesterone during 1st tri; lacks MHC-1 expression to prevent maternal immune response
Koilocytes
Pyknotic (pre-apoptotic) superficial or immature squamous cells with a dense, irregularly staining cytoplasm and pernuclear clearing
HPV manifestations
Skin warts (1-4), genital warts (6, 11), and intraepithelial neoplasia of cervix (16, 18)
Ovary nerves and vessels travel through:
Suspesory ligament in the ovary
What ligament/artery has to be ligated during radical hysterectomy
Cardinal ligament, which carries the uterine artery
Combined OCP MOA
Suppression of gonadotripn FSH/LH in anterior pituitary, inhibiting ovulation
Endometriosis anatomical findings
Nodularity of the uterosacral ligaments, fixed retroversion of the uterus, and endometriomas (chocolate cysts)
Human placental lactogen (hPL) MOA
Syncytiotrophoblast-produced, similar structurally and biochemically to prolactin and growth hormone; hPL increases maternal insulin resistance, maternal lipolysis and proteolysis; the average levels of hPL increase with increasing gestational age
Maternal insulin resistance
Increased placental of hPL, GH, estrogen, progesterone, GC; gestational DM occurs when pancreas cannot keep up with insulin resistance
Turner syndrome
Lymphedema can vary in severity, from hands/feet to hydrops fetalis
Incomplete fusion of urogenital folds results in:
Hypospadias
Proliferative endometrium
Days 1-14, estrogen stimulates proliferation of stratum functionale; consists of non-branching, nonbudding uniform glands evenly distrubited throughout a uniform stroma; the glands are tubular, narrow, and lined with psuedostratified, elongated, mitotically active epithelial cells
Secretory endometrium
Days 15-28, progesterone stimulates development of secretory endothelium, in which the glands become coiled and release glycogen-rich mucous into the glandular lumen; stroma become edematous with spiral arteries.
Bicornuate uterus or uterus didelphys etiology
Failure of the paramesonephric ducts to fuse (normally forms uterine tubes, uterus, cervix, and upper 1/3 of vagina)
Primary amenorrhea with fully developed secondary sexual characteristics etiology
Anatomic defect in the genital tract, including imperforate hymen or Mullerian duct abnormalities
Complete mole presentation
Vaginal bleeding with uterus enlarged out of proportion to vaginal age; risk of nausea, pre-eclampsia, hyperthyroidism, and theca-lutein cysts; evacuated contents are trophoblasts only (“bunch of grapes”); no fetal tissue present, 46 XX/XY; risk of malignant trophoblastic disease
Partial mole presentation
Vaginal bleeding with crampy abdominal pain; contents include fetus, cord, amniotic membrain and some grossly enlarged villi; fetal tissue present, 69 XXX, XXY; low malignancy risk
Pregnancy/OCP predisposes to gallstones because?
Estrogen-induced cholesterol hypersecretion and progesterone-induced gallbladder hypomotility
Lymph drainage of the testes, scrotum, and glans penis
para-aoric lymph nodes, the superficial inguinal lymph nodes, and deep inguinal nodes
Fibroadenomas histology
Cellular, often myxoid stroma that encircles and compresses epithelium-lined glandular and cystic spaces
Pudendal nerve
S2-S4; sensory innervation to the perineum and genitals, as well sa motor innervation sphincter urethrae and external anal sphincter; pudendal block placed in the ischial spine
Testicular hydrocele, fluid accumulates in what structure
Tunica vaginalis
Estrogen and progesterone production locations during pregnancy
1st trimester: both produced by corpus luteum; 2nd trimester onwards, estrogen by fetal adrenal gland (with placenta) and progesterone by placenta
Prolactin increases steadily during pregnancy; why isn’t there lactation?
Blocked by estrogen and progesterone
Microagnathia (small jaws), small eyes (microphthalmia), malformed/low-set ears, rocker-bottom feet, clenched hands with overlapping fingers
Trisomy 18, Edwards syndrome
Cleft lip/palate, polydactylly and omphalocele
Trisomy 13, Patau syndrome
Accessory nipples vs nevi
Bilateral (50 percent); may swell or become tender during menses
Vasectomy MOA
Transection of the vas deferens; 20 percent of patients have viable sperm in ejaculate after 3 months, need birth control
Invasive mole
Hyropic villi, proliferated trophoblasts
choriocarcinoma
Atypical cytotrophoblastic, syncytiotrpohoblastic cells with foci of hemorrhage, necrosis; no villi present
Trisomny 21 key characteristics
MR, facial dysmorphism, single palmar crease, endocardial cushion defects, duodenal atresia; incresaed risk of AML, ALL, AD
What gene and molecule determines gonadal differentiation into testes and not ovaries?
SRY gene on Y chromosome, testes-determining factor
Lack of sertoli and fully functional Leydig cells leads to:
Both male/female internal genitalia (no Mullerfian inhibiting factor so paramesonephric ducts go on to develop into fallopian tubes, uterus) and male external genitalia (intact testosterone)
Complete mole MOA
Sperm fertilizes an ovum without maternal chromosome; after which chromosomes are duplicated.
Turner syndrome MOA
Lack of a second X chromosome leads to ovaries with little/no follicles, and thus also cannot produce estrogen and progesterone (thus no thelarche or menarche)
RAS
proto-oncogene; GTP binding protein; cholangiocarcinoma, pancreatic adenocarcinoma
MYC
proto-oncogene; TF; burkitt lymphoma
ERBB1
proto-oncogene; Receptor tyrosine kinase; lung adenocarcinoma
ERBB2
proto-oncogene; Receptor tyrosine kinase; breast cancer
ABL
proto-oncogene; nonreceptor tyrosine kinase; CML
BRAF
proto-oncogene; RAS signal transduction; hairy cell leukemia, melanoma
BRCA 1, 2
tumor suppressor genes; DNA repair; breast/ovarian cancer
APC/beta-catenin
tumor suppressor; WNT signaling pathway; colon, gastric, pancreatic cancer, FAP
TP53
tumor suppressor; genomic stability; most cancers, li-fraumeni syndrome
RB
tumor suppressor; G1/S transition inhibitor; retinoblastoma, osteosarcoma
WT1
tumor suppressor; urogenital differentitation; Wilms tumor
VHL
tumor suppressor; ubiquitin ligase; RCC, VHL syndrome
Estrogen synthesis
At theca interna cells, under LH stimulation, cholesterole is converted to progesterone and androgens; at granulosa cells (via aromatase), under FSH influence, androgens are converted to estrogen
Granulosa cell tumors
Estrogen-secreting tumors that can cause endometrial hyperplasia, abonrmal uterine bleeding, and predisposition to endometrial adenocarcinoma
Mifepristone MOA
anti-progestin agent that leads to decidual necrosis and expulsion of the products of conception
Misoprostol
Prostaglandin-E1 analogue that causes uterine contraction and cervical diltation
Anovulation MOA
First several years after menarche; immature HPO axis leads to no ovluation, no degeneration of the follicle into corpus luteum, no progesterone, and continued estrogen stimulation of endometrium in the proliferative phase (leading to irregular periods of bleeding)
Uretheral injury most likely in:
Membranous segment of the posterior urethra as it is unsupported by nearby tissue
Congenital torticollis
Malposition of the head in utero or birth trauma
Granulosa cell tumor
Unilateral, yellow cut surface; Call-Exner bodies (small, gland-like structures with acidophilic material), in sheets or cords
Comedocarcinoma
Solid sheets of pleomorphic, high-grade cells with central necrosis
PCOS hormone deregulation and risks
Acyclic estrogen production, elevated LH levels, progesterone deficiency; higher risk of endometrial hyperplasia/carcinoma and type 2 diabetes
Epithelium makeup in female GU tract
Overy: simple cuboidal; fallopian tube, uterus, endocervix: simple columnar; cervix: stratified squamous; vagina: stratified squamous non-keratinized
Progesterone effect on endometrial cells; what happens with withdrawal?
Endometrial stromal cells differentiate into decidual cells; withdrawal leads to apoptosis
Clomiphene
Estrogen receptor modulator that deceases negative feedback inhibition on hypothalamus by circulating estrogens