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

被引：0

作者：

Ihara, K ^{[1
]}

Kuromaru, R ^{[1
]}

Takemoto, M ^{[1
]}

Hara, T ^{[1
]}

机构：

[1] Kyushu Univ, Fac Med, Dept Pediat, Higashi Ku, Fukuoka 8128582, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1999年 / 83卷 / 05期

关键词：

Rubinstein-Taybi syndrome; neuroblastoma; premature thelarche;

D O I：

10.1002/(SICI)1096-8628(19990423)83:5<365::AID-AJMG4>3.0.CO;2-P

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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, Am, J, Med. Genet, 83:365-366, 1999, (C) 1999 Wiley-Liss, Inc.

引用

页码：365 / 366

页数：2

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