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OB/GYN
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Primary Amenorrhea
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Uterus presence + FSH/karyotype guide the workup.
Decision
Outcome
Decision
Primary amenorrhea. First step?
✓
Pelvic exam or ultrasound + FSH + TSH + prolactin + karyotype (if uterus absent)
✗
Empiric estrogen
Decision
Uterus present?
✓
Yes — check FSH
✓
No — karyotype + serum testosterone
Decision
Uterus present + FSH?
✓
Elevated FSH → primary ovarian insufficiency / Turner syndrome
✓
Low FSH → hypothalamic/pituitary cause
✓
Normal FSH → imperforate hymen or transverse vaginal septum
Outcome
POI (45,XO Turner most classic) — counsel about cardiac, renal, hearing screening
Decision
Hypothalamic/pituitary — TSH and prolactin?
✓
High TSH → hypothyroidism
✓
High prolactin → prolactinoma; MRI
✓
Normal TSH/prolactin → functional hypothalamic amenorrhea (stress, exercise, eating disorder)
Outcome
Levothyroxine
Outcome
Dopamine agonist (cabergoline); MRI for adenoma
Outcome
Address underlying stress, nutrition, exercise; estrogen replacement if persistent
Outcome
Imperforate hymen → surgical incision; transverse vaginal septum → resection
Decision
No uterus — karyotype + testosterone?
✓
46,XX, normal female T → Müllerian agenesis (MRKH)
✓
46,XY, male T → androgen insensitivity syndrome
Outcome
Müllerian agenesis; vaginal dilation or surgical reconstruction
Outcome
Complete AIS (46,XY) — gonadectomy after puberty; estrogen replacement; psychosocial support
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