Carney complex is an autosomal dominant neoplasia syndrome characterized by spotty skin pigmentation, myxomatosis, endocrine tumors, and schwannomas. This condition may be caused by inactivating mutations in PRKAR1A , the gene encoding the type 1A regulatory subunit of protein kinase A. To better understand the mechanism by which PRKAR1A mutations cause disease, we have developed conventional a...

A 35-year-old female was referred in Mai 1999 to our department for oligomenorrhea, baldness and weight gain evolving over 2 years. She doesn’t have any medical record and she is not taking any specific treatment especially corticosteroids. In her familial history, we found a sister and a niece with breast cancer and a brother died of colon cancer. The physical exam revealed a moon face, a mode...

Pituitary adenomas are a common feature of a subset of endocrine neoplasia syndromes, which have otherwise highly variable disease manifestations. We provide here a review of the clinical features and human molecular genetics of multiple endocrine neoplasia (MEN) type 1 and 4 (MEN1 and MEN4, respectively) and Carney complex (CNC). MEN1, MEN4, and CNC are hereditary autosomal dominant syndromes ...

Abstract Introduction: Carney complex is a rare autosomal dominant disorder characterized by pigmented lesions of skin and mucosae, endocrine neoplasms or overactivity, myxomas the heart, skin, other organs. Most patients have at least two affected organs time diagnosis. We present case with involvement limited to thyroid gland. Case: A 48-year-old female was referred for evaluation nodules inc...