Article
A novel mutation in PRKAR1A gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma.
Archives of endocrinology and metabolism - 3 Nov 2021
Ghazi Ali A, Mandegar Mohammad Hossein, Abazari Mohammad, Behzadnia Neda, Sadeghian Taraneh, Torbaghan Siamak Shariat, Amirbaigloo Alireza
Abstract excerpt
Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in PRKAR1A gene. This patient presented with pituitary macroadenoma, acromegaly, recurrent atrial myxoma, Cushing's syndrome secondary to primary pigmented nodular adrenocortical disease and pigmented schwanoma of the skin....
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