Premature thelarche and granulosa cell tumors

A search for FSH receptor and Gsα activating mutations

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

Research output: Contribution to journalArticle

18 Citations (Scopus)

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

Fingerprint

FSH Receptors
Granulosa Cell Tumor
Mutation
Polyostotic Fibrous Dysplasia
Genes
Pituitary Neoplasms
DNA Sequence Analysis
Oncogenes
Neoplasms
Thyroid Gland
Polymerase Chain Reaction

Keywords

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

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

Cite this

Premature thelarche and granulosa cell tumors : A search for FSH receptor and Gsα activating mutations. / Hannon, Tamara; King, Denise Walker; Brinkman, Abigail D.; Steinmetz, Rosemary; Davis, Mary M.; Eugster, Erica; Pescovitz, Ora H.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 15, No. SUPPL. 3, 2002, p. 891-895.

Research output: Contribution to journalArticle

Hannon, Tamara ; King, Denise Walker ; Brinkman, Abigail D. ; Steinmetz, Rosemary ; Davis, Mary M. ; Eugster, Erica ; Pescovitz, Ora H. / Premature thelarche and granulosa cell tumors : A search for FSH receptor and Gsα activating mutations. In: Journal of Pediatric Endocrinology and Metabolism. 2002 ; Vol. 15, No. SUPPL. 3. pp. 891-895.
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