menstruation Flashcards
primary amenorrhea:
-absence of menarche by age 15
secondary amenorrhea:
absence of menses for 6 mo or greater in a woman previously menstruating
Informally: denotes any missed menses in a woman previously menstruating
Dysfunction of any part of the HPO axis can cause amenorrhea.
Often it’s useful to think about causes as
- Hypothalamic
- Pituitary, or
- Uterine/vaginal in origin.
Primary amenorrhea etiology:
Chromosomal abnormalities Structural abnormalities: -Absence of the uterus, cervix, and/or vagina -Transverse vaginal septum or imperforate hymen Hypothalamic causes Pituitary causes Ovarian causes Other
most common chromosomal cause of amenorrhea:
Turner syndrome
45, XO aka turners:
1/2500 live births, but…
99% of 45, XO conceptions are lost prior to birth, usually in the first or second trimester
Turner syndrome includes:
- short stature
- infertility
- primary gonadal failure
- osteoporosis
Turner Syndrome and amenorrhea:
Ovaries are replaced by fibrous tissue (“streak gonads”)
Little or no estrogen production is possible
Managed with hormone replacement starting in teens
Normal uterus and vagina are usually present
Pregnancy possible with donated egg, IVF
Mosaic turners:
only missing X chromosome in some cells.
- soft signs of turners
- risk for premature menopause
Mullerian abnormalities:
Remember that the paramesonephric ducts fuse to form the primordial uterovaginal tissue, and subsequently the fallopian tubes, uterus and upper 1/3 of the vagina
-can cause amenorrhea by causing absence of uterus, cervix or vagina
Mayer-Rokitansky-Kuster-Hauser syndrome:
uterus does not fully develop and undeveloped vaginal canal
Transverse vaginal septum:
the result of abnormal apoptosis of the vaginal plate.
Can occur at multiple levels.
This can involve both Mullerian tissue and Urogenital (external genitalia) tissue.
Imperforate hymen:
Absence of appropriate apoptosis of the cells of the hymenal membrane, which originates from cells of the urogenital sinus (external tissue).
This finding is more common than Mullerian abnormalities, and can be partial or complete.
risk of hematometra or hematocolpos (blood back up into abd) is possible
presentation of structural causes of primary amenorrhea:
Congenital anomalies of the uterus and vagina present with cyclic pelvic pain, possible pelvic mass if functional endometrium is present.
If uterus, endometrium are absent then patient will be asymptomatic except for amenorrhea.
Management of structural causes of primary amenorrhea:
Resection if it’s an imperforate hymen, vaginal septum
Hysterectomy for absent cervix
Creation of neovagina if necessary
Hypothalamic causes of amenorrhea:
Functional hypothalamic amenorrhea Hypothalamic malfunction due to significant physical or psychological stressors, e.g.: -Eating disorders (e.g. anorexia nervosa) -Vigorous exercise -Very low body fat -High emotional or physical stress Treat by: - addressing behavioral issues/stressors -hormone supplementation -Weight gain if indicated
or
Kallmann syndrome
or
Infiltrative dz and tumors of hypothalamus
Kallmann syndrome:
congenital GnRH deficiency classically associated with anosmia
also associated with decreased tanner staging
- manage with E/P therapy
- GnRH can be used to induce ovulation
Pituitary causes of primary amenorrhea:
Hyperprolactinemia due to pituitary adenoma
May be associated with galactorrhea
This is more likely to present as secondary amenorrhea– will discuss later
Ovarian causes of primary amenorrhea
PCOS
Premature ovarian failure
These also are more likely to present as secondary amenorrhea
Androgen insensitivity syndrome (“testicular feminization”)
primary amenorrhea
46 XY karyotype with nonfunctional androgen receptors
Female phenotype
Genetic mutation causes severe impairment in androgen receptor function
Testes may be present in labia
No internal female organs (vagina, cervix, uterus, ovaries)
Removal of gonads after puberty recommended due to risk of malignant transformation
primary amenorrhea work-up:
History General health status (neonatal and childhood) Pubertal milestones Change in weight Exercise habits Medication history Family history Physical exam Height and weight Skin Breast development Pelvic examination (or rectal examination) to detect pelvic organs, masses Syndromic features Ultrasound may be needed to confirm presence or absence of ovaries, uterus, cervix, testes Diagnosis Labs If uterus/vagina present: B-HCG, FSH, karyotype if FSH elevated, prolactin If uterus is absent Karyotype, serum testosterone
*** most common cause of secondary amenorrhea?
pregos
