title: A case of familial Carney complex.
abstract: Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms, a right ventricular myxoma, and bilateral testicular tumors. A total bilateral orchectomy was performed and the pathological findings revealed Leydig's cell tumors on one side and a Sertoli cell tumor on the other side. When his first-degree relatives were examined, his mother was found to have Carney complex as well. This is the first reported case of familial Carney complex in China.
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China. 772431677@qq.com.
authors.forename: Yan Li
authors.initials: YL
authors.lastname: Zhang
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China.
authors.forename: Xiao Cong
authors.initials: XC
authors.lastname: Wang
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Yu
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China.
authors.forename: Li Ping
authors.initials: LP
authors.lastname: Pei
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China.
authors.forename: Shu
authors.initials: S
authors.lastname: Jiang
authors.affiliation: Department of Echocardiography, Cardiovascular Center, First Hospital, Jilin University, Changchun 130021, Jilin, China.
authors.forename: Yun Peng
authors.initials: YP
authors.lastname: Sun
mesh_terms: D000328:Adult; D056733:Carney Complex / Q000175:diagnosis* / Q000601:surgery; D004452:Echocardiography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009442:Neurilemmoma / Q000175:diagnosis; D018310:Sertoli-Leydig Cell Tumor / Q000175:diagnosis* / Q000601:surgery; D012878:Skin Neoplasms / Q000175:diagnosis; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000601:surgery; D013964:Thyroid Neoplasms / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D055815:Young Adult