Amenorrhea Flashcards
amenorrhea - definition & key concepts
*absence of menstrual bleeding in a reproductive-aged woman
*amenorrhea is normal in prepubertal, pregnant, and postmenopausal females
*always start by considering pregnancy
oligomenorrhea - defined
*infrequent menstrual cycles, more than 35 days apart
*moving away from this definition in favor of “abnormal uterine bleeding”
primary amenorrhea - defined
*failure of menses to occur by age 16
*this terminology is different from other primary vs secondary things
*in this case, primary = you never had a menstrual cycle
secondary amenorrhea - defined
*cessation of menses for > 3 months, sometime after menarche has occurred
*in a person who has had previously regular cycles
*pregnancy is top dx on differential
causes of primary amenorrhea
- anatomical issues:
-imperforate hymen
-mullerian agenesis - androgen insensitivity syndrome
- other: Kallman syndrome, Turner syndrome, classical congenital adrenal hyperplasia
causes of secondary amenorrhea
- PREGNANCY
- functional hypothalamic amenorrhea
- polycystic ovarian syndrome
- primary ovarian insufficiency
- intrauterine adhesions/Asherman syndrome
- obesity
- other: hyperprolactinemia, Cushing syndrome, adrenal insufficiency, thyroid disease, nonclassical congenital adrenal hyperplasia
imperforate hymen
*an anatomical cause of primary amenorrhea
*incomplete degeneration of the central portion of the hymen → no opening for shed uterine lining to leave
*accumulation of vaginal mucus at birth → self-resolve bulge in introitus (vaginal opening)
*untreated → cyclical abdominal pain, hematocolpos (accumulation of menstrual blood in vagina → bulging and bluish hymenal membrane)
*treatment = hymenectomy
anatomical causes of primary amenorrhea
*Mullerian agenesis (failure to form Mullerian structures: uterus, etc)
*cervical stenosis
*transverse vaginal septum
*imperforate hymen
*labial fusion-agglutination
testing for anatomical causes of amenorrhea
*giving a progestin challenge (a course of progestin for 10 days)
*progestin withdrawal should induce bleeding within intact structures (normal)
*if no bleeding, probably an anatomical cause of amenorrhea
androgen insensitivity syndrome - overview
*genetics: 46, XY
*pathophysiology: resistance to testosterone due to a loss-of-function mutation in the androgen receptor gene
*gonad: testicle
*gonadal products: testosterone & anti-mullerian hormone
androgen insensitivity syndrome - clinical presentation
*no androgen effect, minimal male patterned hair growth (testosterone does not work)
*feminized/female secondary sex characteristics present (the resultant estrogen from testosterone conversion via aromatase works fine)
*no Mullerian structures (AMH works), short vaginal opening, no cervix, no uterus
androgen insensitivity syndrome - diagnosis
*pelvic exam: short or absent vagina, no uterus
*confirm absent uterus with imaging (MRI, ultrasound)
androgen insensitivity syndrome - treatment
*counseling/psychological support
*surgical removal of gonads (minimize risk of cancer)
difference in clinical presentations of androgen insensitivity syndrome vs. Mullerian agenesis
*BOTH will present as healthy, feminized women with short vaginal openings, no uterus, and no cervix; difference is dependent on presence/absence of pubic & axillary hair
*androgen insensitivity syndrome: no pubic hair or axillary hair
*Mullerian agenesis: pubic and axillary hair present
Mullerian agenesis - overview
*genetics: 46, XX
*pathophysiology: spontaneous degeneration or absence of the paramesonephric (Mullerian) duct [responsible for development of upper vagina, uterus, fallopian tubes]
*gonad: ovaries
*gonadal products: estrogen/progesterone and testosterone
Mullerian agenesis - clinical presentation
*normal ovaries, so produce estrogen
*feminized/female secondary sex characteristics present
*shortened vagina and absent uterus
*testosterone receptors function normally → androgen effect → pubic hair growth
intrauterine adhesions / Asherman syndrome - overview
*only structural cause of secondary amenorrhea
*pathophysiology: trauma to the endometrium results in formation of adhesive bands on healing that can distort or obliterate the uterine cavity
*causes include multiple procedures, biopsies, or D&C’s
intrauterine adhesions / Asherman syndrome - clinical presentation
*secondary amenorrhea
*infertility
*pregnancy loss
*pelvic pain
*estrogen, progesterone, and other reproductive hormones unaffected
intrauterine adhesions / Asherman syndrome - treatment
*estrogen (promote regrowth of endometrium)
*surgery to remove adhesions
functional hypothalamic amenorrhea - overview
*severe caloric restriction, increased energy expenditure, decreased leptin levels, and/or stress leads to functional disruption of pulsatile GnRH release → decreased LH, FSH, and estrogen
*note: serum FSH levels may be normal; clinical history is important; consider progestin withdrawal test to evaluate for presence of endometrium
functional hypothalamic amenorrhea - associations & treatment
*associated with restrictive eating patterns, eating disorders, high achievers/perfectionists, and the female athlete triad
*FEMALE ATHLETE TRIAD = disordered eating/excessive exercise, decreased bone mineral density, and amenorrhea
*REVERSIBLE - increase caloric intake, decrease exercise duration / intensity
primary ovarian insufficiency - overview
*premature atresia of ovarian follicles in females before the age of 40
*most commonly idiopathic; can be associated with chromosomal abnormalities (Turner syndrome, fragile X), autoimmunity, chemotherapy
primary ovarian insufficiency - clinical presentation
*atrophic vaginal mucosa
*hot flashes
*amenorrhea or oligomenorrhea
*may still have random ovulation (small but present change of conception)
primary ovarian insufficiency - diagnosis and treatment
*low estrogen, high LH, high FSH (same as in menopause)
*treatment: estrogen (+/- progesterone)
polycystic ovarian syndrome (PCOS) - overview
*most common hormonal disorder among reproductive-aged women
*excessive androgen production due to high levels of LH from the pituitary gland and excessive insulin (mimics IGF-1 to increase androgen production by ovarian theca cells)
polycystic ovarian syndrome (PCOS) - diagnosis
*must be 2 out of 3 Rotterdam criteria:
1. oligomenorrhea or amenorrhea
2. clinical +/- biochemical hyperandrogenism
3. polycystic ovaries
*note - diagnosis of exclusion: must exclude hyperprolactinemia, non-classical congenital adrenal hyperplasia, thyroid disease, cortisol excess
polycystic ovarian syndrome (PCOS) - clinical features
*hyperandrogenism: Hirsutism (male pattern terminal hair growth), acne
*metabolic syndrome: HTN, obesity, insulin resistance (acanthosis nigricans)
*obesity
*increased risk of endometrial cancer
polycystic ovarian syndrome (PCOS) - approach to treatment
*healthy lifestyle is the cornerstone of therapy
*infertility tx
*hirsutism tx: OCPs with estrogen, spironolactone
*breakthrough bleeding & irregular / absent menses tx: OCPs
*metformin in cases of hyperglycemia
