This document provides guidance for evaluating primary amenorrhea. It recommends beginning with a pelvic exam or ultrasound to check for the presence or absence of a uterus. If the uterus is present, serum FSH levels are checked - increased levels point to ovarian failure while decreased levels suggest hypogonadism. If the uterus is absent, karyotyping and cranial MRI are suggested, with various potential diagnoses depending on the karyotype and hormone levels.

1. Evaluation of primary amenorrhea
Pelvic examination or
ultrasound
Uterus
present
Uterus
absent
Serum
FSH
Increased Decreased
Karyotyping Cranial MRI
Karyotype
serum
testosterone
46, XX
Normal female
testosterone
levels
46, XY
Normal male
testosterone
levels
Abnormal
Mullerian
development
Androgen
insensitivity
syndrome