A 39-year-old woman is evaluated for severe left hip pain after twisting her leg. She has bony deformities of the lower extremities with limited mobility. The patient had a history of precocious pubey, hypehyroidism, which was managed by radioiodine therapy. Physical examination shows large, hyperpigmented-macules with irregular borders located on the left shoulder, left side of neck and left buttock. Which of the following gene is involved in this condition?
McCune Albright syndrome is characterised by Cafe au lait spots Endocrine abnormalities e.g. precocious pubey, hypehyroidism Polyostotic fibrous dysplasia Pathogenesis: Somatic mutation in GNAS gene PTEN gene mutation results in Cowden syndrome. STK11 gene loss of function mutation results in peutz jeghers syndrome. RET protooncogene mutation results in multiple endocrine neoplasia - 2.
GNAS
PTEN
RET
STK11
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