GYN Flashcards
Epithelial Ovarian Cancer
- malignancy involving the ovary, fallopian tube, and peritoneum
- occurs primarily in postmenopausal women
- FH of ovarian or breast cancer
- Presentation: adnexal mass, ascites (SOB, abd/pelvic pain, abd distension, dec bowel sounds, dec appetite) likely due to peritoneal spread of cancer causing inc capillary permeability and dec intravascular oncotic pressure
- lab findings: increased CA-125
- Diagnosis: pelvic US
- Management: exploratory laporotomy (cancer resection staging, and inspection of the and cavity)
Vulvovaginitis: Bacterial vaginosis vs Trichomoniasis vs Candida vaginitis
Bacterial vaginosis: Gardnerella vaginalis
- copious thin, off-white discharge with fishy odor
- no inflammation
- labs: pH > 4.5, clue cells on saline prep, positive whiff test (amine odor on KOH prep)
- tx: topical metronidazole, oral if topical fails; or clindamycin
Trichomoniasis:
- thin, yellow-green, malodorous, frothy discharge
- vaginal or cervical inflammation “strawberry cervix”
- labs: pH >4.5, motile trichomonads on saline prep
- tx: PO metronidazole; treat sexual partner at the same time or you will get ping pong effect
Candida vaginitis:
- thick, white cottage cheese discharge that is sticky to the vaginal wall; odor-less
- RF’s: DM, steroid use or recent antibiotic use
- vaginal inflammation
- labs: normal vaginal pH (3.8-4.5), pseudohyphae seen on KOH prep
- tx: OTC topical anti-fungals; if it fails you can use prescription fluconazole x1
All these will present with itchy and discharge
Can treat right away if presentation is clear
Culture is only needed when organism cannot be identified
Adenomyosis
- Endometrial glands become trapped within the myometrium and cyclically shed
- Typically occurs in women > 40
- Presentation: dysmenorrhea with heavy menstrual bleeding that progresses to chronic pelvic pain, tender bulky uterus
- PE: boggy (soft/flaccid), tender, uniformly enlarged uterus
- Dx: pelvic US and/or MRI. Gold standard: histopathologic exam of a hysterectomy specimen
- Tx: hormonal methods (OCP, levonorgestrel IUD). Hysterectomy = definitive
Cervicitis
Inflammed, friable cervix with mucopurulent discharge
CMT on physical exam
Some women may not experience any symptoms at all until physical exam is done
2 most common causes: gonorrhea and chlamydia; can also be caused by the organisms that cause vulvovaginitis
Dx: PE, GC NAAT (nucleic acid amplification test aka PCR), wet prep
gram stain/cultur enot necessary
GC NAAT takes 48 hrs to come back so you end up treating empirically
Empiric tx: doxycycline or azithromycin for chlamydia and ceftriaxone x1 IM for gonorrhea
If pt presents with chlamydia confirmed by neg gram stain, you do not have to treat empirically - just give doxy or azithro
Functional hypothalamic amenorrhea
Due to suppression of the hypothalamic-pituitary-ovarian axis by strenuous exercise, caloric restriction, or chronic illness –> inc ghrelin, NPY, CRH, GABA, beta-endorphins. dec leptin. –> dec GnRH –> dec LH and FSH –> dec estrogen –> amenorrhea, low estrogen state, low bone mineral density
common presentation: athletic young girl with secondary amenorrhea
Progesterone challenge test (medroxyprogesterone acetate) is used to confirm low estrogen levels; the presence of estrogen causes proliferation of the endometrium, with subsequent sloughing after the withdrawal of progesterone. Pts without adequate estrogen will have no or minimal bleeding as there is no endometrial lining to shed.
Endometrial hyperplasia/cancer
RF’s: excess estrogen (obesity, chronic anovulation, nulliparity, early menarche/late menopause, tamoxifen use)
Clinical features: heavy prolonged irregular menstrual periods and/or postmenopausal bleeding and/or inter menstrual bleeding; uterus is nontender
Dx: gold standard = endometrial biopsy
pelvic US in postmenopausal women
Tx: hyperplasia - progestin therapy or hysterectomy
cancer - hysterectomy
Benign breast diseases: breast cyst, fibrocystic changes, fibroadenoma, fat necrosis, inarticulate papilloma
Breast cyst:
- solitary, well-circumscribed, mobile mass with no echogenic debris or solid components on US
- +/- tenderness
- aspiration can provide relief to a painful mass and would yield clear fluid
- close interval follow-up (2-4 months) with clinical breast exam is indicated to monitor for recurrence
Fibrocystic changes:
- multiple, diffuse nodulocystic masses
- cyclic premenstrual tenderness
Fibroadenoma:
- solitary, well-circumscribed, mobile mass
- cyclic premenstrual tenderness
Fat necrosis:
- post-trauma/surgery
- firm, irregular mass
- pathology: foamy macrophages and fat globules
- +/- ecchymosis, skin/nipple retraction
- mass is often excised due to concerning findings of calcifications on mammography and a fixed irregular mass on clinical exam. no further workup is indicated for excised lesions.
Intraductal papilloma: unilateral bloody (copper) nipple discharge. Lack of breast mass or lymphadenopathy - differentiates this condition from other benign and malignant breast pathology
Exposure to RF’s for cancer according to age
Premenarchal woman (age <11) - estrogen - ovulation - sexually active --> not exposed to viruses \+ toxins
Reproductive woman (11-51) \+ estrogen \+ ovulations \+ viruses - toxins other than smoking
Post-menopausal woman
+ lifetime exposure to estrogen and ovulation
- most malignancies occur here bc RF have occurred throughout her life
Cancer, types, RF’s, screening
Types:
Ovarian: germ, stromal, epithelial
Endometrial: adenocarcinoma
Cervix (ecto, endo): SCC
Vagina: SCC
Vulva: SCC. Variant: Paget’s dz
Cervical, vagina, vulva:
Etiology: HPV. Precancer: CIS (carcinoma in situ)
Cancer: SCC
Screen: Pap
Presentation: Cervical = Post-coital bleeding
Vaginal and vulvar = black pruritic lesions
Endometrial: Etiology: Estrogen Precancer: dysplasia, atypia Cancer: adenocarcinoma Screen: none Presentation: post-menopausal bleeding
Ovarian:
Most common = epithelial - presents later in life, high mortality
Etiology: Trauma to the epithelial layer
Precancer: Low malignant potential (never identified)
Cancer: EOC
Screen: none
Presentation: renal failure due to obstructive hydroureter, small bowel obstruction, ascites
Choriocarcinoma:
Etiology: gestational trophoblastic disease (incomplete mole, mole, or normal pregnancy)
Cancer: Choriocarcinoma
Screen: none; but can follow beta-HCG while person is on OCP (if high means cancer is coming back)
Presentation: postpartum woman (usually <6 months after pregnancy) with enlarged uterus, irregular vaginal bleeding, pulmonary symptoms, and multiple infiltrates on CXR. Sx of elevated beta-HCG (hyperemesis gravidarum, hyperthyroid, size/date discrepencies)
Dx: elevated b-hCG
Most common site of metastasis: lungs (sx: chest pain, hemoptysis, dyspnea)
Cervical Cancer
Most common etiology: HPV - sexual transmission that stays for the rest of her life
HPV:
6, 11 –> warts
16, 18, 30’s –> cervical cancer
Bimodal distribution of cervical cancer: 30’s and 60’s
RF: sex, STD’s, smoking
Presentation:
Reproductive age woman: asymptomatic screen (pap smear) or post-coital bleeding
Post-menopausal woman: post-menopausal bleeding
Dx: pap smear, colpo, staging
Pathology:
HPV infection –> Dysplasia/CIN I/LSIL –> CIS/HSIL –> SCC (can have ecto and/or endocervix)
Between stages can be screened with pap smear
SCC: can take biopsy
How much cervix epithelium is involved? CIN I: outer third CIN II: next third CIN III: next third CIS (carcinoma in-situ): the entire layer
Staging:
I: involves only cervix
Ia: microscopic
Ib: macroscopic (can be seen with naked eye)
IIa: upper 2/3rd of vagina
IIIa: lower 1/3rd of vagina
IIb: + involvement of the cardinal ligament
IIIb: + involvement of the pelvic side wall
IV: metastases
IVa: adjacent metastases (bowel, bladder)
IVb: distant metastases
Management:
Abnormal findings on colposcopy: abnormal vessels, punctate hemorrhages, white changes with clear border, mosaicism.
–> Local ablative therapy (LEAP or cryo)
If endocervical –> try and cut out everything with a cone biopsy
Asymptomatic screen with pap smear –> begin at 21 y/o and repeat q3 years
(adolescents tend to clear HPV). Age 30-65: if getting paps and HPV testing, can screen q5 years.
Exceptions: HIV - screen every year
Grossly abnormal pap –> colposcopy –> ectocervical inspection and biopsy or endocervical curretage biopsy
+ endo +/- ecto –> cone biopsy
+ ecto - endo –> local ablation (cryo or LEAP)
ASCUS (atypical squamous cells of uncertain significance) –> test for HPV DNA or increase surveillence to q6months pap for women 25+ or q12months pap for women 25-
+ ASCUS - HPV –> normal; resume q3 years pap
+ ASCUS - repeat paps –> normal; resume q3 years pap
+ ASCUS + repeat paps –> colpo
IIa or better –> local resection/ablation is usually curative
IIb or worse –> debulking, chemoradiation (platinum)
Prophylaxis:
Gardasil - recommended for girls 11-26, boys 11-21
Endometrial Cancer
Etiology: estrogen exposure (anovulation like PCOS, nulliparity, obesity, early menarche, late menopause, hormone replacement therapy, tamoxifen)
Pre-menarchal girl essentially cannot get endometrial cancer.
Once woman hits reproductive age, estrogen begins and has a cumulative effect –> post-menopausal woman has the most estrogen.
Progesterone is protective.
OCP’s containing progesterone are protective.
Presentation:
- Reproductive age woman with dysmenorrhea
- Post menopausal woman with vaginal bleeding
- Patients may be: old and obese, old and on HRT/SERM, young and anovulation/PCOS, granulosa-theca tumor. All present with vaginal bleeding.
Path:
Estrogen exposure –> hyperplasia of the endometrium (3 stages: cystic –> adenomatous –> atypical) –> adenocarcinoma
Dx: No screening, can only biopsy to get the answer
Get an endometrial biopsy or D&C (same effectiveness)
NOT pelvic US - only good for thickness <5mm
Management:
Total abd hysterectomy (removes mass) + b/l salpingectomy and oophorectomy (removes source of estrogen)
+/- chemoradiation for distant spread
Endometrial sample or D&C: If neg --> vaginal atrophy (treat with estrogen creams; does not inc systemic exposure) If precancer hyperplasia --> give high dose progesterone (preserves fertility) If cancer (adenocarcinoma) --> TAH + BSO If metastases --> TAH + BSO + chemoradiation
Ovarian Cancer
Germ cell tumors: good prognosis
Types:
-dysgerminomas - responsive to chemo; tracked with LDH
- endometrial sinus (yolk sac) - can be tracked with AFP
- teratoma - no marker, but can cause struma ovarii (ovarian tumor with the presence of thyroid tissue comprising 50%+ of it)
- choriocarcinoma - tracked by b-hCG
Pathology: non-malignant –> stay in stage I; only get keep getting bigger
Presentation: teenage girls. Adnexal mass with weight gain.
Dx: TVUS
Tx: unilateral salpingooopherectomy
Epithelial cell tumors: bad prognosis
Types:
- Serous
- Mucinous
- Endometrial
^ all cystadenocarcinomas
Path: epithelial trauma aka ovulation - risk inc with age, usually a post-menopausal woman or nulli/low parous woman. Extremely malignant.
- Brenners
OCP’s are protective
Presentation: usually stage 3b or worse
Generally asymptomatic. Cancer seeds peritoneally (spreads quickly to surrounding organs), causing renal failure, small bowel obstruction, and ascites
Genetic syndromes BRCA1/2 and HNPCC put patient at significant risk
Dx: No screening (no different than normal clinical course).
TVUS, then CT scan to stage. Use CA-125 to track.
Exception: can screen BRCA1/2 carriers with annual TVUS and CA-125. Then do prophylactic TAH and BSO at age 25.
Tx: TAH and BSO +/0 chemotherapy (Paclitaxel)
Stromal cell tumors: 2 types:
- granulosa-theca tumors –> produce estrogen –> excessive estrogen effects like vaginal bleeding from thickened endometrium, breast tenderness. Marker = inhibin. Pathoneumonic: call-exner bodies
- sertoli-leydig –> produce very elevated testosterone –> virilization
- DHEAS levels normal
- Imaging: unilateral ovarian tumor on US
- Tx: resection
Embryonal carcinoma: aggressive ovarian cancer typically diagnosed in adolescents, can present with an abd mass and elevated b-hCG. Pts typically present with ascites.
–
Decision making:
Pt comes in with adnexal mass –> TVUS findings:
- Smooth and small with no septations –> simple cyst (physiologic; no additional workup needs to be done)
- Large, + septations, + loculations –> complex cyst –> look at age and symptoms, then determine
Also measure CA-125. Elevated levels are concerning.
GTD/Moles, Choriocarcinoma
Complete mole “good fertilization, bad egg”: egg and sperm fertilize but egg is incomplete so sperm doubles its set to complete it –> completely molar, completely chromosomal (46 although all sperm), completely spermal
- They grow really quickly: size/date discrepancies, too big too early in the pregnancy, very elevated b-hCG (>100k) which may cause hyperthyroidism or hyperemesis gravidarum
- PE: grape-like mass that protrudes through the cervix; may even see an adnexal mass (simple cyst) due to elevated b-hCG
- Dx: TVUS - snowstorm pattern
- Tx: suction curettage NOT D&C unless done in T2 or scaping out residual tissue
- F/u: measure b-hCG weekly for a year while being on reliable contraception (like OCP’s)
Why?
b-hCG levels should fall to 0 once mole is removed. If at any time it rises, worry about invasive dz like choriocarcinoma. Being on reliable contraception should steer you away from thinking b-hCG is rising bc woman is pregnant.
Incomplete mole “good egg, bad fertilization”: egg is fertilized by 2 sperm –> incompletely molar, fetal parts present, 69 chromosomes, incompletely spermal (egg is present)
- Presentation, dx, tx, and f/u is same as complete mole
*Hydatidiform mole can present with preeclampsia with severe features at <20 weeks.
Choriocarcinoma:
- Malignant
- Product of gestational contents: gestational trophoblastic neoplasia
- Presentation: Sx of elevated b-hCG. Can occur after a miscarriage, molar pregnancy, or normal pregnancy (worst prognosis).
- Dx: TVUS and biopsy via curettage.
Stage with CT scan.
- Chorio likes to spread to the lungs and brain
- Tx:
Surgical - either TAH for localized dz (stage I) or debulking for advanced dz (stage III)
Medical (chemo) - everyone gets methotrexate and actinomycin D. Give cyclophosphamide for refractory dz. Give more chemo for advanced dz.
Vaginal/Vulvar Cancer
Vulvar cancer:
Types: SCC, Melanoma, Paget’s
SCC & Melanoma:
Presentation = black and itchy, can invade
Dx: biopsy
Tx: vulvectomy and lymph node dissection
Paget: good prognosis
Presentation = red and itchy, usually superficial and will not invade
Dx: biopsy
Tx: wide local resection
Lichen sclerosus (intense pruritus, dyspareunia, dysuria, painful defecation, figure 8 appearance) is a vulvar premalignant lesion –> vulvar SCC occurs with greater frequency in these patients. A punch biopsy is recommended for definitive diagnosis and can rule out malignancy - this condition can have an autoimmune pathogenesis and often coexists with other autoimmune conditions (eg type 1 DM, thyroid abnormalities) - Tx: high potency topical corticosteroids
Vaginal cancer:
Types: SCC, clear cell adenocarcinoma
SCC = HPV caused cervical cancer, except you don’t do pap smear on vaginal wall; location: upper 1/3 of the posterior vaginal wall
Adenocarcinoma = grape-like mass in the vagina –> look for DES exposure or DES exposure in mom when pregnant; location: upper 1/3 of anterior vaginal wall
* grape-like mass in vagina is also a buzzword for rhabodomyosarcoma (sarcoma botryoides) and is seen in girls <5yo.
Menopause
Path: ovarian failure –> loss of estrogen, loss of fertility
Presentation: all due to estrogen withdrawal
- hot flashes (vasomotor sx)
- vaginal atrophy (bleeding after sex, uncomfortable sex)
- frequent UTI’s (postmenopausal women are more at risk)
- decreased libido
- irritability, mood swings
- cessation of menstrual periods for 12 consecutive cycles
Dx: clinical - no labs or imaging needed
unless you have premature ovarian failure aka premature menopause
(Labs: dec estrogen –> elevated FSH
Imaging: US –> see no follicles)
(Premature ovarian failure aka premature menopause aka primary ovarian insufficiency: women < 40) Causes: chemotherapy, radiation, autoimmune ovarian failure, Turner’s, fragile X.
Increased FSH and LH. Elevation of FSH usually greater than that of LH due to slower clearance of FSH from the circulation
Tx:
Phytoestrogens (soy based) DO NOT WORK. HRT (systemic) makes woman feel better but can lead to breast cancer so DO NOT GIVE.
Hot flashes and irritability/mood swings –> SNRI (venlafaxine)
Vaginal atrophy –> estrogen creams (local, not systemic)
Cardiovascular dz –> screen with LDL; give statin if indicated.
Osteoporosis –> screen with DEXA at 65 or 60 if smoker –> If +, give bisphosphonates, vit D, Ca supplements
If vit D deficient, replace with 50k units injection per week
Recommend exercise
Breast Cancer
RF’s:
Modifiable: HRT, nulliparity, inc age at first live birth, alcohol consumption
Non-modifiable: genetics, white race, increasing age, early menarche or later menopause
Pathology:
1. Exposure to estrogen (early menarche, late menopause, nulliparity, HRT)
OCP’s are safe - estrogen is not high enough, may even be protective from the progesterone
2. Radiation
Treated for lymphoma in the past and radiated in the chest
3. Bad genes - BRCA1/2 - inc risk of breast and ovarian caners
Presentation:
- Asymptomatic screen
- Breast lump
- Obvious breast cancer - skin dimpling, fixed firm axillary nodes, large breast mass
Screening:
- Self breast exams are not recommended
- Clinical breast exams are also not recommended anymore
- Mammogram - USPSTF says start at 50 and do every 2 years. ACS/NCI say start at 40 and do yearly.
- MRI = better than mammogram but it is cost-prohibitive; only use in ppl with very high risk (BRCA1/2 or previous radiation to chest)
Dx:
Mammo then biopsy
- Can be a screening mammo or a diagnostic mammo - same test but dx mammo = bc you think she has cancer
- Biopsy: core biopsy (better than FNA but less invasive than excisional biopsy)
- FNA = for younger women
- Excisional = when you know its cancer for sure and want to get it out
Presentation: breast lump
Women < 30 - mammo doesn’t work too great bc breast tissue is too dense
–> wait 1-2 cycles bc if it goes away with menstrual cycle it was benign
–> if still there do US - will tell diff between mass (cancer) and cyst (continue benign workup –> FNA)
FNA: bloody = prob cancer; pus = abscess –> tx infection and drain; fluid = benign cyst
If at any time if 30+ or mass or bloody or recurrence –> go back to mammo and biopsy
Management:
Local - procedures like radiation and surgery
- Early stage cancers: lumpectomy + axillary LND + radiation works just as well as mastectomy + axillary LND
Before doing axillary LND you should always do a sentinel lymph node biopsy - if neg, chance of being cancer spreading to other LN is <5% –> not worth risk of lymphedema from removing all the LN - don’t do axillary LND. If pos, axillary LND.
Systemic - chemo and targeted therapy
- Chemo: doxorubicin/daunorubicin (cause CHF in dose dependent/irreversible way-have to get repeated echos) based chemo regimen + cyclophosphamide + paclitaxel
- Targeted:
Her2neu+ –> traztuzumab (causes CHF in dose independent/reversible matter-have to get echos still) poor prognosis
Estrogen or Progesterone receptor + –> SERM if premenopausal. Aromatase inhibitors if postmenopausal.
- BRCA1/2+ –> prophylactic b/l mastectomy + b/l BSO
If not need to do MRI and mammo every year to screen - SERM’s: Tamoxifen and Raloxifene - both E antagonists in the breast but T is an E agonist in the uterus
T > R but risk of DVT is greater in T than R and T carries risk of endometrial cancer whereas R does not. R is also used in postmenopausal osteoporosis if bisphosphonates cannot be tolerated
Hot flashes are the most common side effect experienced in pts taking Tamoxifen - theorized to exhibit antiestrogenic activity in the CNS and to cause thermoregulatory dysfunction in the anterior hypothalamus
Ovarian Torsion
When the suspensory ligament gets twisted (usually due to a cyst) and there is poor perfusion to the ovary. The suspensory ligament of the ovary holds the vein and artery.
Presentation: spontaneous abd pain, toxic
PE: may feel cyst that provoked the torsion
US with doppler to see cyst and decreased flow
Tx: surgical emergency
untwist the ovary or remove if necrotic
Ovarian vascular supply
L and R ovarian arteries stem from the aorta
L ovarian vein drains into the L renal vein (along with the L adrenal vein) which drain back to the IVC.
R ovarian vein drains directly into the IVC.
Uterine vascular supply
L and R uterine arteries arise from the internal iliac arteries.
Uterine Ligaments
- Uterosacral ligaments (connects uterus and sacrum)
Need to be removed in hysterectomy
Look like ureters so be careful (if you cut the ureters it is a urological emergency) - Cardinal ligament (connects uterus and side wall; also has an anterior and posterior portion that keeps everything in place in the front and back)
If this ligament is weakened you can get pelvic floor relaxation: bladder and rectum, separated from the uterus with the ligament, fall out of line.
Bladder can fall down –> cystocele
Rectum can fall down –> rectocele
Uterus can fall down –> uterine inversion
Pelvic Floor Relaxation
Presentation of pelvic floor relaxation:
- Mom who has had large multiple births –> stretched ligaments
- Will see vaginal fullness, chronic back pain
- Dx: clinical - speculum exam: if you see something falling down from anterior –> cystocele; if you see something coming up from poster –> rectocele;
cervix is too close to speculum –> uterine inversion
Tx: Hysterectomy (for uterine inversion) and/or colporrhaphy (for rectocele or cystocele)
F/u: disease specific
Cystocele may present with incontinence
Rectocele may present with constipation
Uterine inversion may present on exam. Stages:
I: uterus is down into vagina but not in the vaginal opening
II: at vaginal opening but not outside of it
III: outside of the vagina
IV: full inversion out of the vagina
Primary Amenorrhea
- evaluate the hypothalamic pituitary axis - does she have secondary sex characteristics (eg breast buds)
- is the anatomy there so that she can bleed?
+ axis, + anatomy (normal)
- -> stress, anxiety, anorexia/wt loss, pregnancy before 1st period, does not see blood (imperforate hymen)
- -> history and physical; UPT/b-hCG
+ axis, - anatomy
–> mullerian agenesis or androgen insensitivity syndrome/testicular feminization
–> mullerian agenesis: XX, normal testosterone level
AIS: XY, elevated testosterone level
- axis, + anatomy
–> Kallmann Syndrome (hypothalamic deficiency - no production of GnRH), craniopharyngioma or other ant pit tumor (no production of LH or FSH), Turner’s syndrome
–> Kallmann and craniopharyngioma: no FSH/LH being produced. Differentiate with MRI - craniopharyngioma or other ant pit tumor will show mass
Turner’s syndrome: XO, elevated FSH/LH, see streak ovaries with TVUS - axis, - anatomy
**PCOS
Kallmann’s Syndrome and Craniopharyngioma
Kallmann’s: No GnRH from hypothalamus
Craniopharyngioma: no FSH/LH from ant pit
–> ovaries not stimulated to make E and P for endometrial lining and secondary sex characteristics
Presentation:
+ uterus, tubes
- secondary sex characteristics
Kallmann’s: amenorrhea and anosmia
Diagnosis: low FSH, LH
MRI differentiates the 2 (mass with craniopharyngioma)
Tx: Give E and P
Resect craniopharyngioma
Embryology
Normal female XX = retention of Mullerian ducts (upper 1/3 of vagina, uterus, and fallopian tubes)
Mullerian inhibiting factor inhibits generation of mullerian ducts
Ovaries –> estrogen, progesterone –> 2’ sex char
Default external genitalia = female –> vulva, vagina, clitoris
Influence of testosterone –> penis, scrotum
XY: testes –> testosterone and mullerian inhibiting factor
Mullerian agenesis
XX
No mullerian ducts –> no upper 1/3 of vagina, uterus, or tubes
Ovaries present –> 2’ sex char present
External female present (vulva, vagina, clitoris)
–> all female on the outside, no uterus and tubes to bleed
Path: idiopathic loss of mullerian ducts
Dx: karyotype
- normal T, FSH, LH
Tx: surgically elevate
vagina (vagina is short since 1/3 is missing and sex might be painful)
–> live life as normal woman but cannot have kids (no uterus)
–> Mullerian agenesis and AIS are essentially the same dz but AIS has testes and mullerian agenesis does not
Androgen Insensitivity Syndrome/ Testicular Feminization
XY
+ testes
+ MIF –> no 1/3 vagina, uterus, tubes
+ testosterone
Path: T resistance (T not able to do anything on the body):
- Default female genitalia unable to turn into penis and scrotum –> external female genitalia
- excess T peripherally converts into E and P –> still develops 2’ sex char
–> all female on the outside, no uterus or tubes to bleed, but has testes
Dx: karyotype
elevated T
FSH/LH normal
US shows testes **difference with mullerian agenesis
Undescended testes has inc risk for testicular cancer.
Tx:
- Elevate vagina
- After puberty (around age 21) –> orchiectomy to prevent risk of testicular cancer but you waited until after puberty so that enough time was given for excess T to be converted to E&P to develop 2’ sex char
- need to be put on estrogen therapy after orchiectomy for bone health
–> Mullerian agenesis and AIS are essentially the same dz but AIS has testes and mullerian agenesis does not
Turners Syndrome
XO, can be XX too
Streak ovaries –> lose E&P –> no 2’ sex char
Still default external female and + mullerian ducts –> 1/3 vagina, uterus, tubes, vulva, vagina, and clitoris all there
Presentation:
webbed neck, broad spaced nipples, shield-like chest, cardiac problems (coarctation of the aorta, bicuspid aortic valve)
Dx: karyotype
elevated FSH and LH
US shows streak ovaries
Tx:
Give E&P to develop normally
F/u:
Echo to look for cardiac anomalies and repair
Secondary Amenorrhea
- 3 consecutive cycles without having any menses in a person with regular periods
- 6 consecutive cycles without having any menses in a person with irregular periods
Causes:
Most common:
- pregnancy –> + UCT –> OB
- hypothyroidism –> + TSH (low T4 stimulates –> give levothyroxin (hypothalamus to make more TRH which stimulates the ant pit to make more prolactin which inhibits GnRH)
- prolactinemia or prolactinoma –> prolactin level (prolactin inhibits GnRH; presents as galactorrhea and amenorrhea) –> MRI –> + prolactinoma - use dopa agonists like bromocriptine and cabergoline; if - look at TSH and medications
- medications: dopamine antagonists (atypical antipsychotics) disinhibits prolactin
Less common:
- HPO axis: (reproduction is not essential to life; in times of stress or scarcity hpo axis will make cortisol and trh as opposed to fsh and lh)
hypothalamus - stress, anorexia, exercise
ant pit - adenoma, sheehan syndrome (death of pituitary after a tumultuous delivery), apoplexy (pituitary outgrows vascular supply and infarcts)
ovary - resistant ovarian syndrome aka savage syndrome, premature ovarian failure (menopause in women <40), menopause
endometrium - Asherman’s syndrome (no more proliferation of the uterus usually due to procedures and scarring, most commonly post partum curretage), ablation
Dx in the less common causes of secondary amenorrhea: work bottom up
1. Endometrium: progesterone challenge - if she bleeds, think PCOS; if she does not bleed, test by giving E&P to see if uterus would respond if all signals were given –> no bleeding = problem with endometrium, probably Asherman’s or ablation. + bleeding –> signal issue on HPO axis …
2. Ovaries: FSH/LH. Elevated = if ovary is not working. N or Low = if ant pit not working.
If ovarian problem, do US to see if there’s follicles. + follicles –> resistant ovarian syndrome/savage syndrome, menopause, or premature ovarian failure –> savage syndrome is treated like menopause or give HRT if she wants fertility.
- follicles, look at brain …
3. Ant pit: MRI. If - look at hypothalamus…
4. Hypothalamus: dx of exclusion
Vaginal bleeding by age group
Most common causes by age group:
Pre-menarchal: foreign body
** be on the lookout for sexual abuse and precocious puberty
- Dx: speculum exam +/- anesthesia
Reproductive: pregnancy
- look out for pregnancy, abnormal uterine bleeding, and cervical cancer
- Dx: UPT
Post-menarchal: vaginal atrophy
- look out for endometrial cancer and HRT
- Dx: endometrial biopsy
Life-threatening uterine bleeding
- 2 large bore IV’s
- IV fluid boluses to support BP
- Type and cross, transfuse as needed
- IV estrogen - shuts off acute bleeding of the uterus (like protonix for GI bleed)
- Surgical intervention if IV estrogen is not working
- intracavitary tamponade (temporizing measure; insert balloon into uterus and hope bleeding stops)
- D&C
- uterine artery embolization (AVM, fibroids)
- TAH - definitive tx but removes fertility
Look at vitals, orthostatics, and change in hgb over change in time. Then reassess after giving IVF
Hgb <7 –> transfuse
Causes of vaginal bleeding in reproductive age, non pregnant woman
Polyps
Adenomyosis
Leiomyoma (fibroids)
Malignancy (endometrial, cervical)
Coagulopathy Ovarian Dysfunction Endometrium Iatrogenic (IUD's) Not yet classified (everything else)
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Fibroids: asymmetrical, nodular uterus
- benign growth of myometrium
- cannot progress to leiomyosarcoma
- estrogen responsive (worse during menstrual cycles, less so after menopause)
- highly vascular
- RF: AA
- Presentation: asymptomatic nodules, anemia or bleeding, painful, infertility, and if big enough and subserosal they can cause visceral obstruction of ureters, bladder, kidneys, and bowel
- Dx: TVUS
MRI works too but is expensive; use only when differentiating between leiomyoma and leiomyosarcoma
-Tx: first line = OCP’s then IUD’s
NSAIDs for pain
Surgery:
If she wants kids –> myomectomy (scoops out fibroid)
If she doesn’t want kids –> TAH
If surgery is desired and fibroids are too big, can give leuprolide (continuous GnRH therapy) which shuts off the hpo axis –> shuts off estrogen, shrink fibroids, cut out
- submucosal fibroids can protrude into the uterine cavity, causing heavy and prolonged menstrual bleeding and can prolapse through the cervical os, presenting with a typical labor-like pain due to cervical distension by the solid mass
Adenomyosis: symmetric, smooth, boggy uterus
Abnormal Uterine Bleeding
Dx of exclusion - everything else has been ruled out.
Tx: OCP’s and then IUD’s
NSAIDs can hold off the bleeding
If she continues to bleed or wants to stop taking meds surgical intervention is required - ablation or hysterectomy. Both cases remove ability to have kids
PCOS
Path: anovulation –> estrogen dominant system, decreased progesterone secretion. Atretic follicles (underdeveloped follicles) that produce testosterone
Presentation:
- modest elevation in androgens –> hirsutism
- DHEAS levels are normal
- metabolic syndrome (HTN, HLD, DM)
- infertility due to anovulation
- menometrorrhagia
Dx:
- hx of anovulation
- biochemical evidence of hyperandrogenism (DHEAS, testosterone, LH/FSH ratio > 3:1) or US imaging evidence of b/l atretic follicles
Tx:
- wt loss, exercise
- metformin - helps not only with DM but also with pushing them into ovulation
- OCP’s/IUD’s if she doesn’t want to get pregnant
- Clomiphene if she wants to get pregnant and needs ovulation to occur
(Clomifene inhibits estrogen receptors in the hypothalamus, inhibiting negative feedback of estrogen on gonadotropin release, leading to up-regulation of the hypothalamic–pituitary–gonadal axis)
- anti-androgens like spironolactone to treat the hirsutism
Pts with PCOS are at inc risk for endometrial hyperplasia and cancer due to unregulated endometrial proliferation from unopposed estrogen stimulation
