A patient presents with Endocrinopathy, fibrous dysplasia of bone and hyperpigmentation. Diagnosis is?
Correct Answer: McCune Albright syndrome
Description: Ans. (a) McCune Albright syndrome(Ref: Robbins 9th/pg 1206-1207)McCune-Albright syndromeGeneticsIt is due to GNAS mutation - continuous activation of stimulatory G proteinPatho physiologyIncreased production of hormones by glands regulated by the G protein systemClinical featuresPrecocious puberty, Polyostotic fibrous dysplasia, unilateral Cafe au lait spots
Category:
Pathology
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