Reproductive Flashcards
What is the chromosomal abnormality of DiGeorge Syndrome?
deletions of chromosome 22q11
What is the embryological pathogenesis of DiGeorge syndrome
Malformation of the third and fourth pharyngeal pouches
what are symptoms are DiGeorge syndrome?
CATCH 22
- Cardiace Anomalies
- Abnormal facies (cleft palate, wide eyes, micrognathia, short philtrum, broad nasal bridge, low set ears)
- Thymic aplasia
- Cleft palate
- Hypoparathyroidism
- Chromosome 22
What is the Dx:
Lesion the shaft of penis
solitary, thickened, whitish plaque w slightly ulcerated and crusted surface
Biopsy: markedly dysplastic epithelial cells, many mitoses, disordered epithelial maturation, intact basement membrane
Bowen Disease: Squamous cell carcinoma in situ
Identify disease and histological appearance: vaginal bleeding after pregnancy hemoptysis enlarged uterus, normal adnexa increased B-hCG levels CXR: multiple bilateral lung nodules
Gestational Choriocarcinoma with metastasis to lung -
proliferation of cytotrophoblasts and synctiotrophoblasts
49-year-old female present to office complaining of dysmenorrhea. states that menstrual bleed has nearly doubled.
Pelvic exam: large, boggy uterus
negative preg test
what is most likely diagnosis?
Adenomyosis - ectopic endometrial gland and other tissue in uterine myometrium
–pts usually over 40
–endometrial tissue is stuck, cannot slough off causing pain
–phys exam: boggy, soft, enlarged uterus
–US, MRI used for dx
Tx: hysterectomy if symptomatic
Where does fertilization normally take place?
Ampulla of fallopian tube
What is used to treat estrogen receptor positive breast cancers? what does this drug increase the risk for?
Tamoxifen
-increased risk for endometrial cancer
exhibit mixed agonist and antagonist estrogen activity
22 year old female with hirsutism. Irregular periods, fat, velvety dark pigmentation in the axillae bilaterally
what is dz and what is treatment? What are Ultrasound findings
Polycystic ovarian syndrome (PCOS)
—caused by excess LH = excessive ovarian androgen production (decreased FSH)
treat with Oral Contraceptives
US: multiple immature follicles in a row forming a “pearl necklace”
Which 3 STDs should be reported to the CDC?
HIV
Syphillis
Gonorrhea
defects in urachal obliteration can lead to what? (2 types)
- patent Urachus = urine from umbilicus
2. Urachal cyst - can lead to infection, adenocarcinoma
What drug should be used in a patient with Lobular carcinoma in situ of the breast, pmh of perimenopausal uterine polyps, and demineralization of cortical bone of lumbar vertebrae?
Raloxifene - estrogen antagonist in breast, improves mineralization
-NOT tamoxifen because tamoxifen has estrogen fx on endometrial tissue
What is the distinction between
- Placenta Accreta
- Placenta Increta
- Placenta Percreta
- Accreta = chorionic villi penetration to the myometrium
- Increta = penetration through the entire thickness of the myometrium
- Percreta = penetration to the uterine serosa
75 year old male presents with painless enlarging mass in left testis
-intermittent fevers, night sweats, weight loss
mass is nontender, firm, does not fluctuate with palpation. mass does not transilluminate. Valsalva has no effect on size
what is most likely dx
Diffuse large B-cell lymphoma - most common subtype of non-Hodgkin lymphoma
usually in 7th, 8th decade of life.
involves BCL-6 translocation
28 year old female presents with 2cm painless mass adjacent to the nipple without nipple retraction. Discharge is unilateral and serous. Mother was dx’d with invasive ductal carcinoma when she was 38 years old.
Phys exam: small, freely mobile, well-marginated, palpable mass beneath areola. what is most likely dx?
Intraductal papilloma - typically located beneath the areola. unilateral discharge consisting of bloody or serous material.
Grossly: lobulated, soft, tan mass lying in a cystic cavity.
32 year old G1P0 at 34 weeks gestation complains of abdominal pain, HA. Hx of 10 pack-year smoking.
BP 142/100, bilateral pitting edema of lower extremities. Mild facial edema. DTR 3+, Urine dipstick has 3+ proteinuria.
What is dx and what is greatest risk that causes this condition?
Preeclampsia
–Nulliparity, age >40, chronic pre-existing HTN, renal dz,
17 year old male cant smell, normal stature, high pitched voice, small testes w not scrotal pigmentation, scant pubic, axillary hair
what is dx, classification, what is mechanism of defects?
Kallmann syndrome
-hypogonadotropic hypogonadism
- hypoplasticity of GnRH-secreting neurons + neurons a/w olfactory bulb in hypothalamus
- -anosmia, color blindness
How do oral contraceptives affect breast cancer, endometrial, ovarian cancer?
increase Breast Cancer
decrease Endometrial, Ovarian cancer
How does injury to the 1. Posterior urethra 2. Anterior urethra differ? (method of injury, leakeage)
- Pelvic fracture - urine can leak into retropubic space
2. Perineal straddle injury - urine can leak beneath deep fascia of buck
What isolates gametes from autoimmune attack?
Tight junctions between adjacent Sertoli Cells = Blood-testis barrier
Identify:
36 year old present with bilateral breast pain
pain is especially bad 1 week before her mentrual period. exam show bilateral lumpiness that is tender to palpation
Fibrocystic breast changes
- -35-50 years old
- -cyclical breast pain - from too much fluid retention
What period of embryonic development is the fetus most susceptible to teratogenic effects? why?
weeks 3-8 = “Embryonic period”
–period where rapid organogenesis occurs
What hormonal feedback does Prolactin show?
inhibitory effect on the hypothalamus and release of GnRH =
decreased estrogen
decreased FSH
decreased LH
30 year old female present with vaginal spotting after sexual intercourse. sexually active since 15. Renal ultrasound shows hydronephrosis of the right kidney.
What is happening?
Cervical cancer - spreads to pelvic sidewalls and compresses ureter.
HPV 16, 18 could have been prevented by vaccination
An overweight 29 year old female says her periods occur on average every 3 months with occasional spotting in between periods. Pelvic ultrasound reveals thickened endometrial stripe.
What is happening?
increased peripheral conversion of androstenedione (by increased aromatase in adipose cells)
increased estrogen = endometrial hyperplasia (thickened endometrial stripe), proliferation of endometrial glands = abnormal bleeding
What is most likely associated finding on transvaginal ultrasound of a hydatidiform molar pregnancies
Theca-lutein ovarian cysts (stimulated by elevated gonadotropin levels)
24 year old with breast mass
increased in size just before her last menstrual period. 2 cm, firm, mobile, painless, well-circumscribed lesion
Fibroadenoma - small, mobile, rubbery, benign
–estrogen responsive = increases in size/become tender during pregnany or during the premenstrual luteal phase
overweight 60 year old nulligravid female presents with breast mass first noticed 2 months ago. no pain or discharge.
mass is firm, fixed, in upper outer quadrant
Invasive ductal carcinoma - firm, fixed with irregular borders, occurs most often in the upper outer quadrant of the breast
Sexually active female presents with a bluish hue to her vaginal mucosa
what is happening?
Pregnancy
bluish hue = Chadwick’s sign, often first physical sign of pregnancy in the first few weeks.
17 year old girl presents with vaginal bleeding in the first trimester. BP 150/90, urinalysis is positive for protein. Uterine fundal height is above the pubic symphysis. What is happening and what should be elevated in serum?
Molar Pregnancy
-preeclampsia in the first trimester, vaginal bleeding, uterus larger than expected
XX embryo where two X spermatozoa fertilize a sterile egg.
-hCG should be greatly elevated
What are the normal uterus fundal heights during pregnancy?
Week 12: level of pubic symphysis
Weeks 20: Umbilicus
Weeks 36: Xiphoid process
Weeks 37-40: slight regression to 32-36cm
What is the diagnostic blood marker for menopause?
FSH
LH increase is typically not seen until later
What are three things correlated with Cocaine use during pregnancy?
Placental abruptin
Intrauterine growth restriction (IUGR)
increased risk for pre-term labor and delivery
What is usually the first phenotypic sign of puberty in girls?
Thelarche
A 23 year old male with nonseminomatous testicular cancer has been experiencing sweating, diarrhea, and a sensation that his heart is racing. what is the cause of his symptoms?
Ligand-receptor cross reactivity between B-hCG and TSH
=clinical hyperthyroidism
some testicular patients can also exhibit gynecomastia through hCG and LH homology
What is the defect that occur in development of:
- Hypospadias - opening on ventral
- Epispadias - opening on dorsal
- incomplete fusion of urethral folds
2. incomplete fusion of urogenital sinus
What are the antihypertensive drugs that can be used during pregnancy?
"Hypertensive Moms Love Nifedipine" Hydralazine a-Methyldopa Labetalol Nifedipine
What is IV magnesium sulfate used for in pregnancy?
Preeclampsia to prevent seizure (Eclampsia)
What is HELLP syndrome? what is seen in peripheral smear?
Pregnancy:
Hemolysis
Elevated Liver enzymes
Low Platelets
schistoytes
Can lead to hepatic subcapsular hematomas
What other Comorbidity is a/w PCOS?
Diabetes Mellitus II
What are mutations in BRCA1 and BRCA2 genes associated with?
tumor suppressor genes:
hereditary Breast and Ovarian cancer
Who gets clear cell adenocarcinoma
women who had exposure to DES in utero
What are the hormonal levels involved with PCOS?
increased LH:FSH increased androgens (testosterone)
(increased LH, DHEA +decreased FSH)
what serum marker can be used to monitor ovarian neoplasm response to therapy?
CA 125
Ovarian Fibroma
Ascites
Hydrothorax
Benign Ovaran Fibroma
–Meigs Syndrome
Identify the malignant ovarian neoplasm:
tumor markers: hCG, LDH
what is the demographic, histologic appearance?
Dysgerminoma
- -adolescents
- –sheets of uniform “fried egg” cells
Breast tumor that appears as microcalcifications on mammography. What is a subtype with central necrosis?
Ductal Carcinoma in situ - early malignanct WITHOUT basement membrane penetration
- -arises from ductal atypicia
- -fills ductal lumen
central necrosis = Comedocarcinoma
firm, fibrous, “rock hard” mass with sharp margins, small glandular duct-like cells. Grossly: stellate infiltration of breast
Invasive Ductal Carcinoma - Most common (75% of all breast cancers)
Breast cancer:
orderly row of cells histologically
identify type, and abnormal protein expression
Invasive lobular carcinoma
–orderly row “indian file” from decreased E-cadherin expression
19 year old presents with sudden onset lower abdominal pain and vaginal spotting. no fevers, chills. LMP was 5 weeks ago. no sexual activity. preg test negative. What is most likely etiology
Persistent hemorrhage into corpus lutem without resorption causes the formation of a
CORPUS LUTEUM CYST - presents similar to ectopic pregnancy
—suspect when there is abdominal pain, abnormal bleeding, negative pregnancy test
41 year old G3P3 African american female presents with heavy vaginal bleeding. mentrual periods have become heavier and heavier now lasting 10 to 11 days. Sensation of pelvic pressure and discomfort. Uterus is enlarged and irregularly shaped. No adnexal swelling/pain. cervix is normal. urine beta hCG is normal. Pelvic US shows mass in uterus
identify dz and likely histological appearance
Uterine fibroid = Leiomyoma
- -benign tumor
- -usually present with excessive menstrual bleeding
–Extracellular matrix surrounded by compressed muscle fibers
63 year old female present with vaginal bleeding for the past week. Denies pelvic pain, or other discharge. menopause 15 years ago. Never been pregnant or taken oral contraceptives. PMH: HTN. BMI: 23. pelvic exam normal. Pelvic US: endometrial thickness 20 mm.
Identify dz and histological appearance of biopsy
Endometrial hyperplasia - precursor to endometrial carcinoma
—abnormal proliferation and crowding of endometrial glands, w/ or w/o nuclear atypia
—ABNORMAL UTERINE BLEEDING IN POST MENOPAUSAL WOMEN
Abnormal curvature of penis
erectile dysfunction. painful
identify dz and etiology
Peyronie disease - fibrous plaque within tunica albuginea
painless homogenous testicular enlargement
histology: large cells in lobule with watery cytoplasm and “fried egg” appearance
identify dz and serum marker.
Seminoma - most common test tumor
malignant, does not occur in infancy
- –increased placental ALP
- –Late metastasis, excellent prognosis
Yellow, mucinous testicular/ovarian tumor. histolog shows primitive glomeruli
identify dz and associated serum marker
Yolk sac tumor
-Schiller-Duval bodies = primitive glomeruli
- increase AFP
- most common testicular tumor in boys <3yrs old
Testicular tumor
golden brown color
eosinophili cytoplasmic inclusions
gynecomastia in men, precocious puberty in boys
Leydig cell Tumor
- -Reinke crystals = eosinophilic cytoplasmic inclusions
- -produce androgens (gyne, precocious puberty)
what are 3 pharmaceutical therapies for Benign prostatic hyperplasia?
a1-antagonists (terazosin, tamsulosin)
–relaxation of smooth muscle (urination)
5a-reductase inhibitors (finasteride)
taladafil
Which part of the prostate does prostatic adenocarcinoma most often arise?
posterior lobe (peripheral zone)
Markers: Prostatic acid phosphatase (PAP) PSA --increased total PSA --decreased fraction of free PSA
What can prostatic adenocarcinoma progress to? what are serum findings?
Ostoblastic metastases in bone
- -lower back pain
- -increased serum ALP, PSA
21 year old male present with unilateral painless testicular enlargement. bilateral gynecomastia. serum has elevated beta hCG.
what is most likely diagnosis?
Choriocarcinoma
- -affects younger men (15-35), malignant
- -secretes B-hCG (analogous to LH) = precocious puberty, gynecomastia, impotence
–both syncytiotrophoblastic + cytotrophoblastic cells
What does the label of pregnancy category D imply?
evidence of fetal risk but potential benefits of drug may be acceptable despite its portential risks
What is the use and mechanism of oxandrolone?
anabolic-androgenic steroid therapy for burn victims (increases protein synthesis)
—causes testicular atrophy
A pregnant female present in labor. Hx of HIV, she is prescribed a med that reduces the risk of perinatal HIV transmission.
identify drug and mechanism
Zidovudine or zidovudine + lamivudine
- -Nucleoside reverse transcriptase inhibitors (NRTIs)
- –Competitive inhibition of RNA-dependent DNA polymerase and subsequent DNA chain termination
56 year old Patient presents with abnormal uterine bleeding and breast tenderness. Mass in her left adnexa. associated paraspinal hypertonicities in thoracolumbar junction. Lab shows normal cancer antigen 125
Symptoms are due to what?
Excess estrogen produced by granulosa cells
–Granulosa Cell Tumor
21 year old with epilepsy brings her 1 year old son to the pediatrician. son has microcephaly, underdevelopment of the midfacial region, hypoplasia of toe and finger nails.
What drug did she use during pregnancy?
Phenytoin
Sx = FETAL HYDANTOIN SYNDROME
Where is the majority of endogenous estrogen produced in:
- non pregnant premenopausal women
- pregnant women
- Ovarian granulosa cell
2. placenta (produces estriol)
21 year old male presents with unilateral, painless testicular enlargement. Histology: abundance of stromal cells containing rod-shaped intracytoplasmic crystal-like inclusions with rounded ends which are locatd in the interstitial cells of the testis.
what is dx? what is the tumor marker?
Leydig cell tumor
–histology = Reinke’s crystals
leydig cells are found in the interstitium of the testis adjacent to the seminiferous tubules.
if occurs in children - virilization
tumor marker = inhibin alpha
What is the mechanism and use of Danazol?
decreases the production of FSH and LH from the anterior pituitary
–can be used in endomeriosis
45 year old immigrant female from japan present with bilateral pelvic pain especially during intercourse. also reports 6 months of indigestion. Phys exam: Acanthosis nigricans, Bilatearl ovarian masses.
What is dz. what will biopsy of mass show?
krukenberg tumor (bilateral ovarian metastasis from GI adenocarcinoma)
histology: mucin-producing signet ring cells
pt presents after third miscarriage. each at approximately five weeks gestational age. Normal physical exam. what does most likely have a deficiency of?
Progesterone synthesis from corpus luteum.
(weeks 0-8/10 = progesterone synthesized by corpus luteum)
(after 8/10 weeks = progesterone synthesized by syncytiotrophoblast cells of placenta)
27 year old female presents with cyclic pelvic pain occurring near time of her menses. Pt admits to dyspareunia, states her pain peaks one or two days before the onset of her menses and subsides at the onset of flow. labs are within normal limits. When forming diagnosis, what is most important to conduct laparoscopic visualization of?
Ovaries - most common site of endometriosis
female had unprotected sex 6 days ago and request emergency contraception. what is most appropriate method?
Copper intrauterine device (works up to 7 days)
oral methods (2-5 days)
What drug is used to ripen the cervix if there is lack of sufficiency cervical dilation when the mother is undergoing at term contractions
Prostaglandin agonist (Dinoprostone - PGE2)
misoprostol - PGE1 = used for cervical ripening as well as to stimulate uterine contraction in postpartum hemorrhage
A pt in labor starts seizing and is administered magnesium sulfate. What is the first sign of magnesium toxicity?
first sign: decreased deep tendon reflexes
also: nausea, flushing, headache, drowsiness
G5P1041 female presents to your clinic with amenorrhea for 7 months since her spontaneous abortion that required dilation and curettage. Negative preg test. Denies vision changes, nipple discharge.
What is the likely dz and histological finding?
Asherman syndrome - secondary amenorrhea that results from intrauterine adhesions
–Absent stratum basalis from endometrial biopsy = inadequate for zygote implantation = amenorrhea
When should Rhogam be administered (2 cases)
- routine at 28 weeks
2. immediately following invasive procedures (amniocentesis or chorionic villus sampling)
41 year old presents w testicular pain and malaise. no hx of trauma to area. no recent sex. right scrotum is swollen and erythematous w significant tenderness to palpation.
what is the most appropriate initial step in management? what about pts under 35 yrs old?
Epididymitis
pts > 35 - ciprofloxacin
pts < 35 - ceftriaxone + doxycycline or azithromycin
What is the mechanism of Clomiphene? what are its uses and a likely side effect?
SERM - prevents estrogen negative feed back to hypothalamus and Ant pituitary
=increased FSH, LH
can be used in PCOS to stimulate ovarian follicles
side fx = multiple enlarged follicles
What is dz and histology findings:
49 year old w weight loss, lower abdominal pain for past 3 months. pain + pressure in her left lower abdomen. frequent sweating, diarrhea, 10 lb weight loss. 4 cm nontender mass in the lower left quadrant palpable on bimanual pelvic examination.
Struma ovarii - papillary of follicular tissue w positive staining for triiodothyronine and thyroxine
–teratoma of ovary containing functioning mature thyroid tissue = presents with signs of hyperthyroidism
Which cranial nerve is associated with poor suckling disorders?
what is Tx?
Compression of occipital condyles - CN XII
tx = condylar decompression
