Five-year Follow-up Observation of Family Members with Carney Complex

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 327-337-Neuroendocrine Tumors
Clinical
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-336
Yoo Min Park*1, Jin Kyung Hwang1, So Young Park1, Jung Il Son1, Sang Ouk Chin1, Joo Young Kim2, Sang Youl Rhee1, Suk Chon1, You-Cheol Hwang1, In-Kyung Jeong1, Seungjoon Oh1, Kyu Jeung Ahn1, Ho Yeon Chung1, Jeong-taek Woo1, Sung-Woon Kim1 and Young Seol Kim1
1Kyung Hee University School of Medicine, Seoul, South Korea, 2Dongsuwon General Hospital, Suwon, South Korea
1. Context

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.

2. Objective

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.

3. Patients

Twenty one family member with Carney complex due to the PRKAR1A gene mutation participated in this study.

4. Results

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.

5. Conclusions

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.

Rhee SY et al., Exp Clin Endocrinol Diabetes 2012; 120:7

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

Sources of Research Support: The current study was conducted with the help of fi nancial supportfrom the Young Investigator Award, sponsored by theKorean Society of Endocrinology.