Premature thelarche and granulosa cell tumors: A search for FSH receptor and Gsα activating mutations

Tamara S. Hannon, Denise Walker King, Abigail D. Brinkman, Rosemary Steinmetz, Mary M. Davis, Erica A. Eugster, Ora H. Pescovitz

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Activating mutations of the GSα gene are responsible for McCune-Albright syndrome and have also been identified in sporadic tumors of the pituitary and thyroid. When associated with malignancy, activating GSα mutations are known as gsp-oncogenes. We hypothesized that similar activating mutations might also account for some cases of premature thelarche and/or granulosa cell tumors. Polymerase chain reaction and DNA sequencing was used to screen for activating mutations of GSα genes in children with premature thelarche and in pathologic specimens from juvenile and adult granulosa cell tumors. Because these disorders involve over-activity of the FSH-signaling pathway, we also screened for activating mutations of the FSH receptor. No mutations were detected in either the Gsα or the FSHR fragment studied. Previously reported polymorphisms (Ser680Asn and Ala307Thr) of the FSHR were detected in 25/27 tumor samples and 9/9 premature thelarche samples. We conclude that activating mutations in previously identified mutation 'hot-spots' in the GSα and FSH receptor genes are probably not a major cause of premature thelarche or granulosa cell tumors. In contrast, polymorphisms of the FSH receptor are common.

Original languageEnglish (US)
Pages (from-to)891-895
Number of pages5
JournalJournal of Pediatric Endocrinology and Metabolism
Volume15
Issue numberSUPPL. 3
StatePublished - Jan 1 2002

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Keywords

  • Follicle-stimulating hormone receptor
  • G-protein coupled receptor
  • Granulosa cell tumor
  • Premature thelarche

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

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