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Neurofibromatosis type 1 and precocious puberty
R Virdis1, M Sigorini, A Laiolo
1Adolescents and Neurofibromatosis Center, Department of Pediatrics, University of Parma, Italy.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|September 2, 2000
Summary
Precocious puberty (PP) is more common in children with neurofibromatosis type 1 (NF1). PP is often linked to optic pathway tumors (OPT) but not exclusively. Early treatment may improve final height outcomes.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Oncology
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder.
- Precocious puberty (PP) is a known complication of NF1.
- Optic pathway tumors (OPT) are also associated with NF1.
Purpose of the Study:
- To determine the prevalence of PP in pediatric NF1 patients.
- To investigate the association between PP and OPT in NF1.
- To analyze clinical, auxological, and hormonal data in NF1 patients with PP.
Main Methods:
- Retrospective review of 412 pediatric patients with NF1.
- Analysis of PP prevalence and OPT association.
- Evaluation of clinical and hormonal data, including treatment outcomes.
Main Results:
- Prevalence of PP was 2.4% (10/412) and OPT was 7.5% (31/412).
- PP was associated with OPT in 22.6% (7/31) of patients with OPT.
- PP onset ranged from 5.2-7.5 years in girls and 7.9-8.9 years in boys.
- Treatment with LHRH agonist was used in 3 patients, achieving final height within familial range.
- Untreated patients showed variable final height outcomes, with some markedly below familial range.
Conclusions:
- The prevalence of PP is elevated in children with NF1.
- PP in NF1 is frequently, but not always, associated with OPT.
- PP is not exclusively linked to chiasmatic OPT.
- Treatment for PP in NF1 may be beneficial for children with early onset or declining predicted final height.