Neurofibromatosis type 1 and precocious puberty

R. Virdis, M. Sigorini, A. Laiolo, E. Lorenzetti, M. E. Street, A. R. Villani, A. Donadio, F. Pisani, C. Terzi, L. Garavelli

Research output: Contribution to journalArticle

Abstract

Since neurofibromatosis type 1 (NF1) is a well known cause of precocious puberty (PP), we reviewed 412 NF1 pediatric patients to evaluate the prevalence of PP, the association with optic pathway tumors (OPT), and other clinical, auxological and hormonal data. Thirty-one of 412 patients had OPT (7.5%), 10/412 PP (2.4%), and in seven of these PP was associated with OPT (7/31, 22.6%). OPT in patients with PP involved the chiasm in four patients, and the optic nerves alone in three patients. The age at the onset of puberty (or better at diagnosis) ranged from 5.2 to 7.5 yr in girls (n=6) and from 7.9 to 8.9 yr in boys (n=4). LHRH agonist therapy was used in only three children because in the others the predicted height at diagnosis was good, treatment was refused or the patients were referred to us too late. The three treated patients attained a final height within the familial range. In the untreated patients the progression of puberty was not too rapid and final height was slightly below the genetic target in four patients; however, three patients had a final height markedly below the familial range. In conclusion, the prevalence of PP is increased in children with NF1, and frequently but not exclusively is associated with OPT. Moreover, sexual precocity does not seem to be necessarily bound to chiasmatic OPT. Treatment seems to be useful in the children with younger age at the onset of puberty or with a progressive decline in predicted final height.

Original languageEnglish
Pages (from-to)841-844
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume13
Issue numberSUPPL. 1
Publication statusPublished - 2000

Keywords

  • Chiasm gliomas
  • Growth in neurofibromatosis
  • LHRH agonist
  • Menarche
  • Neurofibromatosis type 1
  • Optic pathway tumor
  • Precocious puberty

ASJC Scopus subject areas

  • Endocrinology
  • Pediatrics, Perinatology, and Child Health

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  • Cite this

    Virdis, R., Sigorini, M., Laiolo, A., Lorenzetti, E., Street, M. E., Villani, A. R., Donadio, A., Pisani, F., Terzi, C., & Garavelli, L. (2000). Neurofibromatosis type 1 and precocious puberty. Journal of Pediatric Endocrinology and Metabolism, 13(SUPPL. 1), 841-844.