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50 Cards in this Set

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What are the physical findings in pt w/ androgen insensitivity syndrome? (pt is XY)
Neither wolffian duct nor mullerian system develops, so no uterus, little to no axillary or pubic hair
Usually have large breasts w/ immature nipples
If incomplete, there could be some pubic and axillary hair plus phallic development

Note: serum testosterone levels are in normal MALE range
What is another name for androgen insensitivity syndrome?
Testicular feminization
Treatment for androgen insensitivity syndrome?
Allow to finish sexual maturity then remove gonads (to prevent dev't of gonadoblastoma or dysgerminoma
What are the physical findings in pt w/ mullerian agenesis?
Sexual hair + mature nipples
No uterus

Note: serum testosterone levels are in FEMALE range
What other physical abnormality is associated with mullerian agenesis?
Renal anomalies
Perform renal US or intrravenous pyelography on these pts
15 y/o w/o breasts, yes uterus, normal wt & diet/exercise. What does HIGH LH/FSH indicate?
What is next test to do?
What additional studies?
Gonadal failure.
Get karyotype
Do CXR, IV pyelogram, thyroid fxn tests
15 y/o w/o breasts, yes uterus, normal wt & diet/exercise. What does LOW LH/FSH indicate?
What is next test to do?
What additional studies?
Unstimulated gonads
Head MRI/CT to r/o pituitary tumors
thyroid fxn tests, GH, cortisol, PRL
Consider pituitary stimulation tests
15 y/o w/o breasts, yes uterus, normal wt & diet/exercise. What does NORMAL LH/FSH plus negative progesterone challenge indicate?
Pituitary-CNS failure – glycoprotein hormones are immunologically but not biologically active
W/u is similar to low LH/FSH w/u
What are pituitary causes of amenorrhea? (4)
1) Cells are damaged 2/2 anorexia, thrombosis, hemorrhage (Sheehan's or Simmons)
2) Neoplasms: often PRL secretors
3) Acromegaly
4) Cushing's
What are hypothalamic causes of amenorrhea? (5)
1) Congenital: Kallman's (anosmia + midline facial defects) or isolated Gn deficiency
2) CNS neoplasms
3) Infiltrating disease: TB or sarcoid
4) Stress
5) Eating disorder: anorexia or bulimia
Secondary amenorrhea plus high FSH in pt <40?
What are some causes of this?
Premature ovarian failure
Autoimmune disease like Hashimoto's, Addison's, DM, or Hypoparathyroidism
What are symptoms of premature ovarian failure?
Hypoestrogenism
High FSH
Ovarian biopsy: Generalized sclerosis or only primordial follicles (no progression past antrum stage)
When to check karyotype in pt with premature ovarian failure? (4)

What else to check in these pts?
1) Pt < 30y/o (46XX/XY mosaic → remove gonads to prevent malignancy)
2) Pt <63 inches tall (Turner's)
3) Gonadal failure = uterus, no breasts, high FSH
4) Androgen insensitivity = breast, no uterus, male testosterone levels

Antithyroid antibodies, antinuclear antibodies, 24-hr cortisol
What are other, less common or rare causes of premature ovarian failure? (5)
1) Chemo or rads
2) Lung cancer
3) Single gonadotropin deficiency
4) Resistant or insensitive ovaries (bad or absent receptors)
5) Galactosemia (rare AR galactose metabolism dz)
What is MC cause, overall, of amenorrhea?
Pregnancy!
Always get UPT first
Which drugs can cause amenorrhea?
Antipsychotics (phenothiazines, haloperidol, droperidol)
TCAs
Antihypertensive (reserpine, methyldopa)
Anti-anxiolytics (benzos)
Metoclopramide
Opiates
Barbiturates
Estrogens
Any drug that stimulate PRL excretion
Initial eval of amenorrhea should include which tests?
TSH
PRL
Progesterone challenge
What is the mechanism behind athletic amenorrhea?
High stress levels
Energy deficit
Eating disorder
The 1st 2 cause increase in catechol estrogens and beta endorphins → mess w/GnRH release and hence LH & FSH
Treatment for athletic amenorrhea?
Encourage pt to improve diet, decrease stress, decrease strenuous exercise
Replace estrogen and progesterone if the other changes don't help
Which enzyme defect can cause cause amenorrhea?
17-α-OHlase deficiency → effects both ovarian and adrenal gland production → no sex hormones or breast development
Pts do have uterus
Also have xs mineralocorticoids → HyperNa, HypoK, HTN
Decreased cortisol

Tx: replace cortisol and sex hormones
What is major cause of anovulatory amenorrhea?
PCOS
What percentage of reproductive age women have PCOS?
5%
What are 2 other names for PCOS?
Stein-Leventhal syndrome
Chronic ovarian hyperandrogenism
What systemic fxns are affected in PCOS?
Ovulation
Glycemic control
XOL metabolism
What are possible criteria for diagnosing PCOS?
Menstrual dysfunction (anovulation or oligo-ovulation)
PCOS on US
Hyperandrogenism (clinical or biochemical)
Absence of other androgen disorders or hyperPRL
What other syndromes can present like PCOS?

What are tests to differentiate?
Hyperprolactinemia
Late-onset adrenal hyperplasia
Ovarian and adrenal hyperplasia
Cushing's syndrome

Tests to differentiate:
Serum PRL
17-OH progesterone
Serum testosterone
DHEAS
1mg o/n dexamethasone suppression test & 24hr urine free cortisol
MC presenting symptoms of PCOS?
Infertility (64%)
Hirsutism (69%)
Amenorrhea (51%)
Obesity (41%)
Dysfunctional uterine bleeding (29%)
Which labs may be abnormally HIGH in PCOS pts?
Testosterone and androstenedione
E1
DHEA and DHEAS
LH (often 3:1 to FSH)
Hyperinsulinemia(more frequent in obese PCOS pts)
Which labs may be abnormally LOW in PCOS pts?
FSH (can be normal)
Sex hormone binding globulin
E2
Decreased fasting glucose:insulin (<4.5:1)
What are clinical findings in PCOS?
Hirsutism
Acanthosis nigricans (often associated w/ hyperinsulinemia = HAIR-AN)
Anovulation
Cardiovascular disease
Abnormal glucose metabolism
What is the inheritance pattern of inherited PCOS?
XLD or AR (other chapter says AD!)
Theoretical 50% inheritance but is more like 40% because of genetic and environmental factors
How to treat PCOS if desire fertility?(4)
Clomiphene (80% ovulaton rate, 50-60% pregnancy rate)
Human menopausal gonadotropin is 2nd-line therapy (hMG)
Wedge resection/ovarian drilling
Metformin
Wt loss
IVF
Treat PCOS obesity? (3)
Diet/exercise
Anti-obesity drugs
Metformin
Treat PCOS dysfunctional uterine bleeding? (3)
OCPs
Progestins
Dilation and curretage
Treat PCOS hirsutism?
OCPs
Vaniqa (eflornithine)
Progestins
Spironolactone (anti-androgen)
Fluatmide (anti androgen)
Finasteride (5α-reductase inhibitor)
GnRH analog
Metformin
Cimetidine
Electrolysis
Laser vaporization
Traditional acne treatments
Treat PCOS recurrent miscarriage?
hCG
progesterone supplementation
Best treatment for PCOS?
Likely insulin-lowering drugs
Who gave PMS its name?
What year?
Dalton
1953
What is the definition of PMS?
Constellation of symptoms that occurs in a cyclic pattern, always in the same phase of the menstrual cycle, interfering with work or lifestyle and followed by a period entirely free of symptoms
What year was 1st published description of PMS symptoms?
1931
What symptoms are associated with PMS?
1) Physical:
Wt gain, breast swelling and tenderness, pelvic pain
Skin changes like acne
Hot flashes
Diarrhea or constipation
H/a
craving sweets
2) Emotional:
Irritability
Insomnia
Depression
Confusion or forgetfulness
Anxiety
Fatigue
Feeling of being “out of control”
What are theories of PMS's cause?
All related to hormonal alterations:
1) Ovarian hormones (estrogen and progesterone)
2) Fluids and electrolytes (PRL, Aldosterone, RAAS, Vasopressin)
3) Neurotransmitters (monoamines, acetylcholine)
4) Others: endorphins, androgens, glucocorticoids, melatonin, insulin
5) Serotonin (since SSRIs help!)
Does decrease in progesterone levels trigger depression and other emotional symptoms in PMS?
Supplementing progesterone seems to INCREASE these symptoms, so likely not. Does seem to help a small number of pts, but this might be due to placebo effect.
Note: The theory was used by Dalton in England as defense in a murder trial.
What is the relationship between progesterone and monoamine oxidase in PMS?
During which phase?
Progesterone increases MAO levels in plasma
Luteal phase
What is role of aldosterone antagonist in PMS?
May be related to physical symptoms of fluid retention (wt gain and breast tenderness)
Some of the emotional symptoms may be related to renin/angiotensin and aldosterone increases
So spironolactone is good treatment (has antiandrogenic fx) that offers relief to many people.
What is thought to be the mechanism behind carb and chocolate cravings in PMS?
Falling serotonin levels
The body ingests carbs trying to raise serotonin and l-tryptophan levels). Normally, when serotonin levels are high enough, the body craves protein which lowers serotonin to begin a new cycle.
In PMS, the pt only craves carbs and chocolate, and serotonin levels never get high enough to trigger protein cravings
What is best diet for reducing PMS symptoms?
Low fat, salt, and sugar
Higher in proteins and complex carbs
Maybe vitamins and minerals (no definitive results)
Do prostaglandins help PMS symptoms?
PGE1 may be low in some women w/ PMS (who have symptoms related to altered carb metabolism)
This can also contribute to dysmenorrhea as well
Both can benefit from NSAIDs, ibuprofen, others
Does sterilization reduce PMS?
Nope (if tubal or ligasure)
In extreme circumstances, TAH and BSO can help with debilitating disease
What is role of psychogenic meds in treatment of PMS?
Double-blind, placebo controlled studies have shown significant PMS symptom reduction with SSRI fluoxetine 20mg PO qday thruout cycle
Sertraline or alprazolam may also help