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Clitoromegaly in neurofibromatosis
R Sutphen1, E Galán-Goméz, B G Kousseff
1Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
American Journal of Medical Genetics
|January 30, 1995
Summary
Clitoral involvement, a rare sign of neurofibromatosis type 1 (NF-1), often presents as clitoromegaly. This condition should be considered in the differential diagnosis of ambiguous genitalia.
Area of Science:
- Genetics
- Oncology
- Pediatrics
Background:
- Neurofibromatosis type 1 (NF-1) is a genetic disorder characterized by the development of tumors in nerve tissue.
- Genitourinary manifestations of NF-1 are uncommon, with clitoral involvement being particularly rare.
Observation:
- This study reviewed four patients with NF-1 and clitoral involvement, noting congenital clitoromegaly as a common presentation.
- Literature review identified an additional 26 cases, suggesting clitoral involvement in NF-1 may be more frequent than previously understood.
Findings:
- Clitoral involvement in NF-1 can manifest as isolated clitoromegaly or extend to surrounding structures.
- Pathogenesis appears consistent with other NF-1 lesions; endocrine and chromosomal studies were normal in affected patients.
Implications:
- Clitoromegaly due to NF-1 should be included in the differential diagnosis of ambiguous genitalia.
- Biopsy of clitoral lesions in NF-1 is typically reserved for cases where malignancy is suspected.