Menstruation Disorders in Adolescents Workup

Updated: Apr 09, 2021
  • Author: Kirsten J Sasaki, MD, FACOG; Chief Editor: Andrea L Zuckerman, MD  more...
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Laboratory Studies

Primary amenorrhea

The laboratory workup for primary amenorrhea depends on the findings from the history and physical examination. If there is physical evidence of a blind-ending vaginal pouch, measurement of the testosterone level and karyotyping are indicated to differentiate between müllerian agenesis and complete androgen insensitivity syndrome.

If a uterus is present, basic laboratory evaluation includes a pregnancy test and levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, thyroid-stimulating hormone (TSH), and prolactin. For interpretation of FSH and LH test results, the estradiol and progesterone levels must be low. In young women with no menses, it is sometimes necessary to draw weekly estradiol and progesterone levels until they indicate that the patient is in the early follicular phase, and then draw FSH and LH levels.

If the FSH is elevated, primary hypogonadism is likely, and karyotyping should be performed to determine whether there is evidence of Turner syndrome (45,X or 45,X/46,XX mosaic) or Swyer syndrome (46,XY). If the FSH is low or normal, the cause is likely hypothalamic, and further workup may include imaging of the head if no obvious cause (eg, stress- or exercise-induced hypothalamic dysfunction) is identified.

If the prolactin level is elevated, it is important to make sure that it was obtained in the fasting state without any recent nipple stimulation; if it was not, it may have to be repeated. If the prolactin level remains elevated and there is no recent medication use, including psychotropic medications to explain the elevation, magnetic resonance imaging (MRI) of the pituitary should be performed to evaluate for a pituitary microadenoma or adenoma.

With signs of hyperandrogenism, serum testosterone, dehydroepiandrosterone sulfate (DHEA-S), and 17-hydroxyprogesterone (17-OHP) levels should be checked to rule out an ovarian or adrenal tumor or congenital adrenal hyperplasia.

Abnormal uterine bleeding

Laboratory evaluation for abnormal uterine bleeding (AUB) should include a pregnancy test, a complete blood count (CBC), TSH levels, testing for gonorrhea and chlamydia, and screening for bleeding disorders when indicated. [12] In high-risk individuals, testing for HIV, syphilis, and hepatitis B and C should be considered as well.

For those with irregular bleeding patterns, measurement of hormone values (eg, estradiol, FSH, LH, and prolactin) may be indicated. Again, for proper interpretation of these values, they should be obtained in the early follicular phase; if menses are irregular, weekly estradiol and progesterone levels can be obtained until they are sufficiently low, at which point LH and FSH can be added. If there is concern about insulin resistance or metabolic abnormalities, one may consider performing a 2-hour glucose tolerance test, as well as fasting lipid levels.

If androgen excess is noted, or as part of an initial screen, one should consider evaluating free and total testosterone levels, DHEA-S, and 17-OHP. Screening for bleeding disorders includes CBC with platelets, coagulation studies, and, if there is concern about possible von Willebrand disease, von Willebrand-ristocetin cofactor activity, von Willebrand factor antigen, and factor VIII level.


Imaging Studies

Diagnostic imaging for primary amenorrhea, like the laboratory workup, depends on the findings from the history and physical examination.

Imaging studies for AUB generally begin with transvaginal ultrasonography (US). Imaging is not necessary in all patients, but it is recommended if abnormal findings (eg, an enlarged uterus) are noted on physical examination or if symptoms continue despite treatment in a patient with normal physical findings. Further evaluation may include hysterosonography or hysteroscopy [12] ; some patients may require laparoscopy, especially if a diagnosis of endometriosis is under consideration.