Session: MON 327-337-Neuroendocrine Tumors
Poster Board MON-336
Carney complex is an autosomal dominant hereditary disease which is caused by PRKAR1A gene mutation. Its clinical characteristics include skin pigmentation, skin and cardiac myxoma, and other various endocrine tumors. Recently, the authors reported a novel PRKAR1A mutation in Carney complex family for the first time in Korea.
The aim of this study was to describe the newly appeared clinical conditions of the Carney complex family members with the PRKAR1A mutation for the past five years after our first report, and also to report the result of PRKAR1A gene analysis among the third generation family members.
Twenty one family member with Carney complex due to the PRKAR1A gene mutation participated in this study.
The first patient was confirmed to have acromegaly after two years of diagnosis with Carney complex. The initial IGF-I was 1,208 ng/mL with the basal GH level of 9.7 ng/mL and failure to suppress GH level below 1.0 ng/mL during the oral glucose tolerance test. A pituitary macroadenoma was observed at the sellar magnetic resonance imaging. One year after surgery, IGF-1 was 297 ng/mL and the lowest GH level measured was 2.1 ng/mL during follow-up period. The second patient, the mother of the first patient, died of cerebral hemorrhage during the observational period. This patient was presumably under the effect of bilateral adrenal hyperplasia with hypercortisolism which was found during the initial gene mutation study. The third patient underwent an additional surgery due to a recurrent cardiac myxoma and a newly developed anal angiomyxoma. The fourth patient also received an additional surgical treatment to remove perineal myxoma. During the observational period, six babies were born, and eight children including two who had been born before the observational period were screened for PRKAR1A gene mutation. No clinical condition was found, but one child was confirmed to possess the identical genetic mutation.
Among twenty one family members including newly born eight children, four of them showed new Carney complex features – one of them deceased, and the other three underwent surgical treatment. No children showed clinical symptoms of Carney complex but one of them was confirmed to have the PRKAR1A gene mutation. Further observation with close follow-up is required for these children.
Nothing to Disclose: YMP, JKH, SYP, JIS, SOC, JYK, SYR, SC, YCH, IKJ, SO, KJA, HYC, JTW, SWK, YSK
*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm
See more of: Abstracts - Orals, Featured Poster Presentations, and Posters