McCune-Albright syndrome

Summary of McCune-Albright syndrome
McCune-Albright syndrome is characterized by the triad of patchy skin pigmentation, bone abnormalities, and endocrine hormonal abnormalities. It is a result of a random mutation in the GNAS gene involved in G-protein signaling. It presents with large cafe-au-lait (light brown) spots, multiple endocrine abnormalities, precocious puberty, and polyostotic fibrous dysplasia.

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McCune-Albright syndrome

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High Yield Notes
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McCune-Albright syndrome

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Precocious puberty in McCune-Albright syndrome is gonadotropin (independent/dependent) , thus gonadotropin-releasing hormone agonist therapy is not effective.

Questions

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A 8-year-old boy is brought to the emergency room after a severe fall from a tree during a family vacation. His mother reports a history of recurrent fractures. Physical examination shows visible scoliosis and large areas of light brown hyperpigmentation with jagged borders on the right side of his back. Armpit hair and facial hair is also noted. His voice is noticeably deeper than most young boys his age. Which of the following gene mutations is most likely the cause of his condition?

External References