Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.

@article{Carney2015GermlinePA,
  title={Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.},
  author={J. Aidan Carney and Charalampos Lyssikatos and Maya B Lodish and Constantine A Stratakis},
  journal={Human pathology},
  year={2015},
  volume={46 1},
  pages={40-9}
}
We describe the pathology of 5 patients with germline PRKACA copy number gain and Cushing syndrome: 4 males and 1 female, aged 2 to 43 years, including a mother and son. Imaging showed normal or slightly enlarged adrenal glands in 4 patients and a unilateral mass in the fifth. Biochemically, the patients had corticotropin-independent hypercortisolism. Four underwent bilateral adrenalectomy; unilateral adrenalectomy was performed in the patient with the adrenal mass. Pathologically, 3 patients… CONTINUE READING

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Highly Influenced

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