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

Am J Med Genet. 1999 Apr 23;83(5):365-6.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Breast / growth & development
  • Child
  • Female
  • Follicle Stimulating Hormone / blood
  • Humans
  • Luteinizing Hormone / blood
  • Neuroblastoma / complications*
  • Puberty, Precocious / etiology
  • Rubinstein-Taybi Syndrome / diagnosis*

Substances

  • Luteinizing Hormone
  • Follicle Stimulating Hormone