McCune-Albright Syndrome Flashcards
1
Q
what is it?
A
not inherited but a somatic mutation in the GH gene
2
Q
how does it present?
A
cafe-au-lait skin pigmentation ('Coast of Maine' appearance)
Polyostotic fibrous dysplasia (bones)
precocious puberty (typically females)
thyroid nodules
pituitary - GH excess
Cushing's syndrome (adrenal)
3
Q
what is its genetic makeup?
A
an example of mosaicism - normally happens in an early embryo development
