Amenorrhea Flashcards
A 16 yo girl is brought to you by her worried parents because she has never had a menstrual period. She denies any vaginal spotting, sexual activity, or cyclical pain. A pregnancy test is negative.
Physical examination of the patient demonstrates Tanner V development of breasts and of pubic and axillary hair. There is no evidence of vaginal agenesis or imperforate hymen. A pelvic ultrasound is unremarkable. Lab data reveal no abnormalities. You diagnose the patient with hypothalamic-pituitary-adrenal-ovarian axis immaturity, and recommend she return in 3-6 months if she has not yet menstruated.
definition and etiologies
-No menses by age 15, OR no secondary sex characteristics by age 13
-Occurs in about 2.5% of all patients
-MC etiology- Hypothalamic-pituitary-adrenal-ovarian axis immaturity
-Local etiologies:
-Imperforate hymen
-Vaginal agenesis
-Androgen insensitivity
-Ovarian etiologies:
-Primary ovarian insufficiency due to:
-Iatrogenesis- Chemotherapy, Radiation therapy
-Illness- Viruses (mumps, varicella), Malaria, Tuberculosis, Autoimmune illness
-Genetic etiologies- Turner syndrome, Fragile X syndrome
-Hypogonadotropic hypogonadism- Kallman’s syndrome
-Sheehan’s syndrome- Pituitary dysfunction from surgery or radiation therapy
-Hypothalamic amenorrhea- Anorexia nervosa, Excessive exercise
imperforate hymen
-Vaginal vault is present, but the vaginal introitus is not patent
-Treat with hymenotomy (an outpatient procedure)
hematocolpos due to imperforate hymen
vaginal agenesis
-there is no vaginal vault present
-due to a mullerian tract anomaly
-may affect formation of the cervix and/or uterus, and kidneys
-failure of vaginal vault to form in embryonic life
-occurs in 1:4000-5000 pts
-often due to mullerian tract anomaly type 1:
-uterus is also absent or is hypoplastic
-transverse vaginal septum
dx and tx of vaginal agenesis
-Dx:
-Absent vaginal introitus and vault on PE
-US is confirmatory- Rudimentary structures may be visible
-May also reveal anomalies of kidneys or ureters
-Treatment:
-Creation of neovagina, if desired- May be accomplished via use of dilators or via neovaginoplasty
-No other treatment is necessary if the patient has functional ovaries
-Otherwise, treat with hormone therapy
androgen insensitivity syndrome
-genotypically 46,XY but is insensitive to endogenous testosterone
-Due to loss-of-function gene in long arm of X chromosome
-Occurs in 1:20,000 liveborn genotypic males worldwide
-In complete androgen insensitivity:
-No male genitals develop
-Gonads remain in abdominal cavity or in inguinal region
-Female genitalia develop instead- Vagina is usually shorter than normal
-No female upper genital tract organs develop
-Increased risk of testicular CA
partial androgen insensitivity syndrome
-genitalia may appear to be those of a virilized female or of an undervirilized male
complete androgen insensitivity syndrome
-Primary amenorrhea
-Possible labial swelling or inguinal mass (descended testicle)
-Scanty axillary and pubic hair
-Tall stature
dx and tx of androgen insensitivity syndrome
-Dx:
-Increased LH
-Increased testosterone
-Increased serum anti-Müllerian hormone
-Ultrasound demonstrates no evidence of uterus, tubes or upper vagina
-46, XY karyotype
-Tx:
-Gonadectomy at age 16-18 due to the risk of gonadal malignancy (5-10%) to permit completion of puberty
-Discussion with parents and/or patient regarding findings and management
-Estrogen replacement
-Referral for counseling
-Vaginal lengthening if and when the patient is interested and is old enough to consider benefits
sequelae of androgen insensitivity syndrome
-osteoporosis
-potential issues regarding gender identity
primary amenorrhea work up
secondary amenorrhea
-amenorrhea occurring at some point after menarche
-MC dx is pregnancy
other common dx of secondary amenorrhea
-Menopause
-Premature ovarian insufficiency
-Prolactinoma
-Hyperthyroidism
-Post-pill amenorrhea
-Anorexia nervosa
-Medication effects
-Outlet obstruction
-Polycystic ovarian syndrome
signs and sx of menopause or premature ovarian insufficiency
-amenorrhea
-vasomotor instability
-vulvovaginal atrophy or dyspareunia
-age >40 - any age with premature ovarian failure
-no reason to obtain FSH if the pt is >45yo
-FSH >30 is indicative of menopause
tx of menopause/premature ovarian insufficiency
-Menopause:
-No treatment needed
-The patient may choose to take HRT if no contraindications exist
-See text and menopause lecture handout for more details
-Premature ovarian insufficiency:
-Must replace estrogens to prevent
-Osteoporosis
-Vulvovaginal atrophy
-See text and menopause lecture handout for more details
prolactinoma
-A benign prolactin-secreting tumor of the anterior pituitary
-May be asymptomatic
-May cause:
-Amenorrhea
-Galactorrhea
-Possible visual field cuts due to compression of the optic chiasm
-Infertility (due to amenorrhea)
-Headaches
-Osteopenia or osteoporosis
-Dx:
-Suspect with evidence of hyperprolactinemia- Avoid breast exam prior to drawing prolactin level to prevent false elevation
-If the patient has hyperprolactinemia, obtain MRI of brain with contrast to rule out a prolactinoma
management of prolactinoma
-Hyperprolactinemia: prolactin >25 ng/ml
-Microadenoma: measures <1 cm on MRI
-May be treated with dopamine agonists
-Bromocriptine
-Cabergoline
-Macroadenoma: measures >1 cm on MRI
-Requires resection
-Refer to Neurosurgery
-Refer to ophthalmology or neuro-ophthalmology for formal visual field studies
-Consider contraception in patients who do not desire fertility
hyperthyroidism
-low TSH: obtain T4
-high T4: hyperthyroidism
-low T4: pituitary (secondary) hypothyroidism
-treat accordingly or refer to endo
post-pill amenorrhea
-May occur while or after a patient stops using hormonal contraception due to an atrophic endometrium
-The patient has a negative pregnancy test
-Diagnosis is made by relevant history and negative UCG
-Treatment: reassure; no other treatment necessary
anorexia nervosa
Amenorrhea is often but not always present due to low body fat and low estrogen stores
medication effect
-Many medications may cause amenorrhea
-Most are hormones
-Estrogens
-Combined estrogens and progestins
-Testosterone
-Other steroid hormones
-Psychiatric medications may also cause amenorrhea
-Changes in secretion of prolactin
outlet obstruction
-Pts who have had cervical surgery may have scarring of endocervical canal or endometrial cavity, impeding flow of menses
-C/O cyclical crampy abdominal pain, breast tenderness, etc. without vaginal bleeding
-Attempt passage of instrument into uterine cavity (endometrial biopsy catheter, etc.)
-Tx:
-cervical dilation after administration of vaginal misoprostol at home
-May be accomplished in office but is painful
Asherman’s syndrome
-Synechiae of the uterus form after uterine instrumentation
-Results in diminished menstrual flow or amenorrhea
-MC occurs after uterine instrumentation following pregnancy
-Diagnosis:
-Hysterosalpingography
-Sonohysterography
-Hysteroscopy
-Treatment: hysteroscopic resection
