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Rubinstein-Taybi syndrome: A girl with a history of neuroblastoma and premature thelarche

โœ Scribed by Ihara, Kenji; Kuromaru, Ryuichi; Takemoto, Megumi; Hara, Toshiro


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
7 KB
Volume
83
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990423)83:5<365::aid-ajmg4>3.0.co;2-p

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โœฆ Synopsis


A 7-year-old girl with Rubinstein-Taybi syndrome (RTS) who had a history of neuroblastoma and premature thelarche is reported. The neuroblastoma was detected at age 6 months on a nation-wide neuroblastoma screening program, surgically removed, and took a favorable clinical course with minimal therapy. She developed isolated breasts at age 6 years, had normal plasma levels of estradiol, follicularstimulating hormone (FSH), and luteinizing hormone (LH), and showed a FSH-predominant pattern on the LH-releasing hormone stimulation test. In view of these findings, she was diagnosed to have premature thelarche. Premature thelarche may not be uncommon in girls with RTS. Am. J. Med. Genet. 83:365-366, 1999.


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