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.
Ihara
K
K
Department of Pediatrics, Faculty of Medicine, Kyushu University, Fukuoka, Japan. k-ihara@mailserver.med.kyushu-u.ac.jp
Kuromaru
R
R
Takemoto
M
M
Hara
T
T
D001940:Breast / Q000254:growth & development; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D009447:Neuroblastoma / Q000150:complications*; D011629:Puberty, Precocious / Q000209:etiology; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis*
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone