Which lab studies are indicated in the workup of precocious puberty in girls?

Updated: Nov 30, 2020
  • Author: Paul B Kaplowitz, MD, PhD; Chief Editor: Robert P Hoffman, MD  more...
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Answer

For girls, estradiol measurements are less reliable indicators of the stage of puberty. Many commercial assays are not sufficiently specific or sensitive enough to demonstrate an increase during early puberty. Levels that exceed 20 pg/mL usually indicate puberty, but some girls who are clearly pubertal may have levels of less than 20 pg/mL. In addition, estradiol levels may fluctuate from week to week. Girls who have ovarian tumors or cysts often have estradiol levels that exceed 100 pg/mL.

Levels of adrenal androgens (dehydroepiandrosterone [DHEA] and dehydroepiandrosterone sulfate [DHEA-S]) are usually elevated in boys and girls with premature adrenarche. DHEA-S, the storage form of DHEA, is the preferred steroid to measure because its levels are much higher and vary much less during the day. In most children with premature pubarche, DHEA-S levels are 20-100 mcg/dL, whereas in rare patients with virilizing adrenal tumors, levels may exceed 500 mcg/dL.

Consider obtaining a 17-hydroxyprogesterone (17-OH progesterone) serum study if mild or nonclassic congenital adrenal hyperplasia is suspected, which is more likely in children of Hispanic or Ashkenazi Jewish origin. One study from Paris found that if a basal level is below 200 ng/dL, the diagnosis of nonclassic congenital adrenal hyperplasia can be excluded; however, if the random 17-OH progesterone level is elevated, a corticotropin (ie, Cortrosyn)–stimulation test provides the greatest diagnostic accuracy, with a post-corticotropin 17-OH progesterone level of greater than 1000 ng/dL being diagnostic. [38]


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