A case of premature thelarche with no central cause or genetic variants within the estrogen receptor signaling pathway

R. J. Hartmaier, M. J.E. Walenkamp, A. S. Richter, J. Wang, Benita S Katzenellenbogen, S. Oesterreich, J. M. Wit

Research output: Contribution to journalArticle


Background: Premature thelarche is defined as breast development before 8 years of age. This is most often caused by central hormone disregulation and is accompanied by concurrent bone maturation. However, we present a case of premature thelarche with concurrent bone maturation without central hormone disregulation. Genes within the estrogen signaling pathway were examined for genetic changes which might be responsible for the clinical phenotype. Patient report: A girl presented with breast development from 18 months of age with undetectable serum estrogens, prepubertal serum gonadotropins, advanced growth and skeletal maturation, but no increase of uterine size, thus presenting a premature thelarche variant. Serum estrogens remained below detectable limits until she entered into an unremarkable puberty at 12.1 years of age. No abnormalities or SNPs were found in the genes tested. Conclusion: We describe a case of premature thelarche which cannot be attributed to a central cause of abnormal hormone levels or to alterations in genes suspected for this phenotype. We conclude that other yet to be identified factors are involved in this unique case of premature thelarche.

Original languageEnglish (US)
Pages (from-to)751-758
Number of pages8
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number8
StatePublished - 2009



  • Coregulators
  • Estrogen receptor
  • Precocious puberty
  • Premature thelarche
  • SNP

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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