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Tsay CJ, Stratakis CA, Faucz FR, et al. Harvey Cushing Treated the First Known Patient With Carney Complex. J Endocr Soc. 2017;1(10):1312-1321doi: 10.1210/js.2017-00283.
Tsay, C. J., Stratakis, C. A., Faucz, F. R., London, E., Stathopoulou, C., Allgauer, M., Quezado, M., Dagradi, T., Spencer, D. D., & Lodish, M. (2017). Harvey Cushing Treated the First Known Patient With Carney Complex. Journal of the Endocrine Society, 1(10), 1312-1321. https://doi.org/10.1210/js.2017-00283
Tsay, Cynthia J, et al. "Harvey Cushing Treated the First Known Patient With Carney Complex." Journal of the Endocrine Society vol. 1,10 (2017): 1312-1321. doi: https://doi.org/10.1210/js.2017-00283
Tsay CJ, Stratakis CA, Faucz FR, London E, Stathopoulou C, Allgauer M, Quezado M, Dagradi T, Spencer DD, Lodish M. Harvey Cushing Treated the First Known Patient With Carney Complex. J Endocr Soc. 2017 Sep 28;1(10):1312-1321. doi: 10.1210/js.2017-00283. eCollection 2017 Oct 01. PMID: 29264456; PMCID: PMC5686675.
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J Endocr Soc. 2017 Sep 28;1(10):1312-1321. doi: 10.1210/js.2017-00283. eCollection 2017 Oct 01.

Harvey Cushing Treated the First Known Patient With Carney Complex.

Journal of the Endocrine Society

Cynthia J Tsay, Constantine A Stratakis, Fabio Rueda Faucz, Edra London, Chaido Stathopoulou, Michael Allgauer, Martha Quezado, Terry Dagradi, Dennis D Spencer, Maya Lodish

Affiliations

  1. Yale University School of Medicine, New Haven, Connecticut 06510.
  2. Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.
  3. Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892.
  4. Cushing Center, Harvey Cushing/John Hay Whitney Medical Library, Yale University, New Haven, Connecticut 06510.
  5. Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519.

PMID: 29264456 PMCID: PMC5686675 DOI: 10.1210/js.2017-00283

Abstract

CONTEXT: Carney complex (CNC) is a syndrome characterized by hyperplasia of endocrine organs and may present with clinical features of Cushing syndrome and acromegaly due to functional adrenal and pituitary gland tumors. CNC has been linked to mutations in the regulatory subunit of protein kinase A type I-alpha (

DESIGN: Tissue samples were taken from the hypothalamus or thalamus or tumors of patients with pituitary adenomas seen and operated on by neurosurgeon Harvey Cushing between 1913 and 1932. Following DNA extraction, sequencing for genes of interest was attempted, including

RESULTS: We report a patient described by Dr. Cushing in 1914 with a clinical presentation and postmortem findings suggestive of CNC. Genetic sequencing of the hypothalamus and pituitary adenoma revealed a germline heterozygous p.Arg74His mutation in the

CONCLUSIONS: This patient is, to our knowledge, the first molecularly confirmed individual with CNC. This case demonstrates the power of modern genetics in studying archived tissues and the importance of recording detailed clinical notes in the diagnosis of disease.

Keywords: Carney complex; Cushing syndrome; acromegaly; archived specimen; genetics; pituitary adenoma

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