Rubinstein-Taybi syndrome: A girl with a history of neuroblastoma and premature thelarche
โ 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
No coin nor oath required. For personal study only.
โฆ 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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