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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

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

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, follicular-stimulating 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.[1]

References

  1. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Ihara, K., Kuromaru, R., Takemoto, M., Hara, T. Am. J. Med. Genet. (1999) [Pubmed]
 
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