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January 27, 2021

January History Tidbit

McCune-Albright syndrome (D.J. McCune, MD (1902-1976), Fuller Albright MD (1900-1969)

Submitted by: Alan D. Rogol, MD, Ph.D

In 1936 McCune described a patient with disseminated osteitis fibrosa, skin pigmentation, precocious puberty and hyperthyroidism (Am J Dis Child 1936; 52:743). The next year Albright noted 5 patients with similar findings (precocious puberty), but with marked variability patient-to-patient (NEJM 1937; 216:727). The syndrome bearing both names is caused by an activating mutation in GNAS 1 (NEJM 1991; 325:1688-1695). Although rare (1/100,000 to 1/1,000,000) it affects different aspects of multiple body systems as a post-zygotic somatic mutation. It is accompanied often by sexual precocity in girls (part of the triad), especially of peripheral origin, and less commonly by GH excess, Cushing’s syndrome, hyperprolactinemia, hypophosphatemia, and nodular thyroid disease. Many of the cutaneous and osseous manifestations are unilateral.

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