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Recommended evaluations for gonadal abnormalities in females with fibrous dysplasia / McCune-Albright syndrome

FSH = follicle-stimulating hormone; GH = growth hormone; H&P = history and physical examination; LH = luteinizing hormone; MAS = McCune-Albright syndrome; PP = precocious puberty; US = ultrasound

1. To be performed at initial presentation in all girls with MAS, regardless of clinical symptoms.

2. Gonadotropins should be suppressed in those with precocious puberty, unless autonomous estrogen production has induced central precocious puberty [Collins et al 2012].

3. Estrogen production in MAS-associated precocious puberty is intermittent, and undetectable levels do not eliminate the possibility of disease.

4. Ovarian cysts are suggestive of MAS-associated precocious puberty; however, absence of cysts does not eliminate the possibility of disease [Authors, personal observation].

5. In isolated peripheral precocious puberty, the differential diagnosis includes estrogen-producing tumor. Evaluation for additional features of MAS may establish the diagnosis.

6. Unlike other features of MAS, autonomous ovarian activity may present at any time during infancy or childhood. Girls should continue to be monitored clinically for signs of peripheral precocious puberty; however, routine laboratory testing and imaging is not recommended.

7. Affected females may rarely present with intermittent ovarian activity with only subtle signs of estrogenization (mild intermittent breast development without vaginal bleeding).

8. Hyperthyroidism and GH excess may present with an advanced bone age compared to chronologic age.