Male/Female Repro & Pregnancy Flashcards
Paget disease of the breast
malignant breast condition characterized by a unilateral, painful/pruritic, eczematous rash on the nipple/areolar skin; dx w biopsy showing the infiltration of the nipple/areolar epidermis by Paget cells - intraepithelial adenocarcinoma cells
Germline mosaicism
affects the cells that give rise to gametes allowing affecting genes to pass to the offspring
Somatic mosaicism
affects cells forming the body causing disease manifestation to develop in affected individuals; results in a mixture of normal and mutated cells leading to milder form of the disease
Turner syndrome
Talipes equinovarus (clubfoot)
an example of an deformation anomaly; caused by abnormal extrinsic forces on a developing fetus the foot is plantarflexed and pointed inward due to restriction in utero
Mifepristone
a progesterone antagonist that is used w misoprostol ( a PGE1 agonist) to terminate a 1st trimester pregnancy
Uterine fibroids
Subserosal uterine leiomyomas (fibroids) can cause irregular uterine enlargement and bulk-related symptoms (ex: pelvic pressure); posterior leiomyomas can cause constipation due to pressure on colon
partial mole
triploid karyotype (69,XXX or XXY) and contain fetal tissue w some edematous villi w focal trophoblastic proliferation and a normal appearing villi; pts present w vaginal bleeding and a prior miscarriage is a risk factor
Histology of gestational trophoblastic disease
pathology of fibroids
benign tumors arising from the uterine myometrium that occur due to monoclonal proliferation of myocytes and fibroblasts
ACEi in pregnancy
are teratogens; decrease angiotensin II activity leading to abnormal fetal renal development, oligohydramnios and potential neonatal Potter sequence
Genetics of Turner syndrome
loss of an X chromosome; should be suspected in a newborn girl with cystic hygroma or lymphedema; dysmorphic features (high arched palate, low-set ears) and aortic anomalies (coarctation) are other characteristic findings
Medications used for pregnancy termination
Placenta accreta
occurs due to placental invasion into the myometrium through defects in the decider basalts; creates a morbid adherent placenta that does not detach after fetal delivery leading to postpartum hemorrhage; often develops because the endometrial decide basalts is absent to defective (prior C-section)
pelvic organ prolapse
herniation of pelvic organs into the vagina occurs due to damage to the levator ani muscle complex; pts w prolapse of the posterior vaginal wall classically have chronic constipation and a vaginal bulge
complete hydatidiform mole
composed of multiple cystic edematous hydronic villi resulting from trophoblast proliferation; serial measurement of B-hCG should be performed following evacuation; persistently elevated levels may signify the development of an invasive mole or choriocarcinoma
b/l ligation for postpartum hemorrhage
the internal iliac artery (via hypogastric artery) supplies blood to the pelvis, including the uterus via the uterine artery; b/l ligation of the internal iliac artery is a potential surgical management
Abruptio placentae
detachment of the placenta from the uterus prior to fetal delivery, presents w painful vaginal bleeding; a tender firm uterus and fetal HR abnormalities; risk factors include abdominal trauma, maternal HTN and tobacco or cocaine use
Uterine sarcoma
a rare but aggressive malignant tumor of the uterine myometrium and/or endometrial stroll tissue; pts typically have clinical features similar to those w uterine leiomyomas, but uterine sarcoma can be distinguished by microscopy - nuclear atypic, abundant mitoses, and tumor necrosis
Start of B-hCG secretions
begins w blastocyst implantation and syncytiotrophoblast invasions; they arise from outer layer of blastocyst and produce B-hCG which maintains corpus luteum progesterone production and supports the developing early pregnancy
HPV oncogenesis MOA
oncogenicity relies on the inhibitory effects of viral proteins E6 and E7 on cell cycle proteins p53 and Rbl this allows infected cells to go unchecked through the cell cycle and evade apoptosis, promoting genomic instability and malignant transformation
Early embryonic development
week 1: implantation
week 3: gastrulation
week 4: neurulation
week 5: neural crest cells migrate to distant sites
Ovarian vein thrombosis
rare complication associated w the postpartum period and is typically right sided; ovarian venous drainage is asymmetric, a thrombus on R can extend into the IVC; in contrast on the L will extend to the L renal vein first
Relaxin in association w widened pubic symphysis
during pregnancy, increased relaxin levels promote sacroiliac joint laxity and widening of the pubic symphysis to help facilitate vaginal delivery
Common manifestations of Turner syndrome
primary amenorrhea, short stature, a high arched palate, and widely spaced nipples; primary amenorrhea occurs due to utero degeneration of ovarian follicles (gonadal dysgenesis)
Physiology changes of normal pregnancy
increased BV and RBC mass; expansion of blood plasma volume is greater than increase in RBC mass there is decreased hemoglobin concentrations (dilution anemia)
Adenomyosis
abnormal presence of endometrial glands and storm w/I the uterine myometrium; affected pts are typically multiparous w dysmenorrhea, heavy menses and UNIFORMLY enlarged uterus
Turner syndrome genetics
loss of an X chromosome, most often due to meiotic nondisjunction during gametogenesis
Peau d’orange
an erythematous itchy breast rash w skin texture changes that resemble an orange peel; key dermatologic presentation of inflammatory breast cancer and is caused by cancerous cells spreading to the dermal lymphatic spaces and constructing lymphatic drainage
pathogenesis of preeclampsia
abnormal placental spiral artery development leading to increased placental vascular resistance, decreased uteroplacental perfusion and decreased umbilical vein O2 delivery
Fertilization w Turner syndrome
in vitro fertilization using a donated ovum is the most promising
Stress urinary incontinence
caused by a weakened pelvic floor muscle support that occurs due to chronically increased intra-abdominal pressure ex: obesity, chronic cough, prior pregnancies
tranexamic acid
an anti-fibrinolytic agent that stabilizes blood clots in hemorrhagic pts; tx for postpartum hemorrhage and improves maternal morbidity and mortality
Contraindications of combined. estrogen/progestin contraceptive pills
OCP and migraines
estrogen-containing contraceptive pills are contraindicated in pts w migraine w aura due to increased risk for ischemic stroke
oophorectomy
the suspensory ligament of the ovary (infundibulopelvic ligament) contains the ovarian artery (major blood supply of ovary), ovarian vein, lymphatics and nerves; must be ligated during an oophorectomy to prevent heavy bleeding
Gallstone pathogenesis in pregnancy/OCP
estrogen-induced cholesterol hypersecretion and progesterone-induced gallbladder hypomobility are responsible for the increased incidence of cholelithiasis in women who are pregnant or using oral contraceptives
Leuprolide
continuously admin GnRH agonist leuprolide, initially stimulate pituitary FSH and ovarian estrogen secretion; prolonged use eventually inhibits endogenous GnRH release and down regulates pituitary GnRH receptors leading to decreased GnRH, FSH and estrogen
most common benign tumor of the breast; characterized by myxoid storm that encircles and sometimes compresses epithelium-lined glandular and cystic spaces
Choriocarcinoma
malignant form of gestational trophoblastic disease composed of anapestic cytotrophoblasts and syncytiotrophoblasts w/o villi; presents as dyspnea/hemoptysis due to pulmonary metastasis from hematogenous spread
Oral isotretinoin therapy
used to tx severe acne w significant scarring; pregnancy is an absolute contraindication due to the risk of teratogenicity; sexually active women should be advised 2 forms of contraception and take monthly pregnancy test
Krukenberg tumor
gastric tumor that has metastasized to the ovary and can present w unintended weight loss, epigastric pain and adnexal Masses; histo - large amounts of mucin w displaced nuclei resulting in a *signet ring appearance
Krukenberg tumor; gastric tumor that has metastasized to the ovary
polycystic ovary syndrome (PCOS)
presents w menstrual irregularities, signs of hyperandrogegism (acne, hirsutism) and obesity; typically have b/l enlarged cystic ovaries
Congenital torticollis
child prefers to hold their head tilted to one side; most commonly the result of malposition of the head in utero or birth trauma
Pudendal nerve block
provides anesthesia to most of the perineum and external genitalia; performed by transvaginal injection of a local anesthetic medial to the ischial spine and through the sacrospinous ligament
Retinal artery vasospasm with preeclampsia
widespread endothelial dysfxn; dysregulation in vascular tone, increased permeability and decreased end-organ perfusion
Acute bacterial prostatitis (ABP)
caused by reflux of urine and organisms from the bladder and urethra; risk is greater in pts w anatomic abnormalities or bladder catheterization; E. coli is the most common cause (fimbriae for attachment)
Primary ciliary dyskinesia (PCD)
AR mut in the proteins responsible for normal flagellar and ciliary structure and fxn (dyne); clinical manifestations include: situs inversus, chronic sinusitis, bronchiectasis and infertility
Androgen receptor dysfunction
pts w partial androgen insensitivity syndrome leads to decreased facial, axillary and pubic hair; oligospermia, gynecomastia and undervirilization of external genitalia; loss of feedback inhibition on the GnRH results in elevated LH and testosterone levels
Klinefelter syndrome tx
testosterone therapy; can improve libido and erectile dysfxn, increase bone density and facilitate muscle development
lymph from the testes
drains through lymph channels directly back to the para-aortic lymph nodes; contrast scrotum - drains to the superficial inguinal lymph nodes
Pelvic fracture associated with posterior urethra injury
frequently associated w injury to posterior urethra, particularly the bualbomembranous junction; inability to void despite a full bladder sensation, a high-riding boggy prostate and blood at the urethral meatus are clinical findings suggestive of urethral injury
Sickle cell disease and priapism
priapism = persistently painful erection caused by engorgement of the corpora cavernosa
often occurs due to persistent obstruction of the venous sinuses that prevents normal detumescence; can be tx w alpha-1 agonist which induced smooth muscle contraction
Sertoli cell deficiency
Infantile vitamin k deficient bleeding
neonates are at risk for vitamin K def primarily do to poor transplacental transfer and low content in breast milk; vitamin K is necessary for clotting, those w/o are predisposed to bleeding complications such as intracranial hemorrhage (ICH)
intracranial hemorrhage in neonate
most likely due to vitamin K deficiency
Finasteride
5 alpha reductase inhibitor; block the conversion of testosterone to DHT in the prostate; reduce the prostate volume in pts with BPH and relieve the fixed component of bladder outlet obstruction
Vasectomy
following a vasectomy, viable sperm remain in the portion of the vas deferent distal to the transection; pts can still have viable sperm in the ejaculate for up to 3 month and last at least 20 ejaculations
Metastatic prostatic adenocarcinoma to the spine
prostate cancer is common in older men and metastasizes primarily to bone due to bone-specific tumor adhesion molecules and receptor ligands on cellular surface; prostate cancer causes osteoblastic lesions that result in new bone growth
Peyronie Disease
abnormal tunica albuginea; acquired - likely related to trauma; localized fibrosis; abnormal curvature when erect leads to erectile dysfunction
tx w pentoxifylline - phosphodiesterase inhibitor; prevents collagen deposition
Penile Fracture
rupture of the tunica albuginea; often associated w urethral damage; caused by blunt trauma; presents as an audible snap and followed by pain, swelling and ecchymosis
Erectile dysfunction
inability to achieve/maintain an erection; usually *PSYCHOLOGICAL component
Phosphodiesterase 5 inhibitors
Sildenafil, Vardenafil, Tadalafil (viagra); leads to more cGMP = relaxation; improved response to NO
side effects of temporary blue vision (cyanopia)
Testicular torsion
testicle rotates in scrotum; twists spermatic cord; can be caused due to abnormal/defect in the scrotal ligament, allows testes to twist; can lead to hemorrhagic infarction
two subtypes: neonatal and “adult” form
*absent cremaster reflex
*must tx c/l testis
bilateral orchiectomy
extrogonadal androgen sources are inadequate to replace the loss of testosterone causing hypogonadal state; loss of testosterone leads to changes in body composition, including decreased lean body weight, increased subcutaneous fat and decreased bone density; also leads to significant decrease in prostate volume
in females the paramesonephric (Mullein) ducts fuse to form the Fallopian tubes, uterus, cervix and upper vagina; disruptions in this process can lead to various Mullein duct anomalies and renal anomalies
methotrexate for pregnancy termination
ectopic pregnancy occurs due to pregnancy implantation in an extrauterine location; medical tx w methotrexate inhibits DNA synthesis and cell reproduction primarily actively proliferating cells such as fetal cells and trophoblasts
Postmenopausal bleeding
most likely from endometrial hyperplasia or cancer; most common risk factor is unopposed estrogen exposure which is associated w obesity (androgens are readily converted to estrogens by aromatase enzyme found in adipose tissue
Renal adaptations during pregnancy
increased glomerular filtration rate, greater basement membrane permeability and decreased tubular resorption of filtered proteins as a result, urinary protein excretion (<300 mg/24hr) is a normal finding in pregnancy
Intermittent anovulatory cycles
common in the first few years after menarche due to an immature HPO axis producing low and irregular GnRH pulses; as a result adolescent girls may have menstrual cycle variability with inter menstrual spotting and heavier menstrual bleeding
Prolactinomas
most common hormonally active pituitary adenomas excess prolactin secretion produced y these tumors can cause galactorrhea and amenorrhea in premenopausal women
neonatal abstinence syndrome
due to maternal opioid use causes neurologic, GI and autonomic symptoms; irritability, tremors, diarrhea and sneezing are class findings; tx warrant opioid replacement and once symptoms are controlled, the medication is weaned off over several weeks
female sexual interest/arousal disorder
decreased interest, decreased arousal or both
oocytes prior to fertilization
secondary oocytes are arrested in metaphase meiosis II
Ovarian torsion
involves the twisting of the infundibulopelvic ligament, often due to weight of a large adnexal mass; resulting occlusion of the blood supply to the ovary results in severe, acute pelvic pain and ovarian ischemia
Gestational diabetes on infant
neonates born to mothers with poorly controlled diabetes during pregnancy are exposed to high maternal glucose in utero resulting in beta cell hyperplasia followed by excessive fetal insulin production; fetal hyperinsulinemia causes neonatal hypoglycemia, polycythemia and macrosomia
Physiological murmur in pregnancy
normal pregnancy is associated w an increase in blood volume and cardiac output that frequently causes a pulmonic flow murmur and S3
