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