CLITOROMEGALY IN NEUROFIBROMATOSIS

Genitourinary neurofibromas are rare and clitoral involvement in neuro fibromatosis (NF) has been reported infrequently. However, when it occ urs, clitoromegaly is often the presenting sign. In many cases, it is congenital. In 236 families with type 1 neuro-fibromatosis (NF-1) eval uated through the USF Regional Genetics Program between January 1982 a nd September 1993, four patients had clitoral involvement. In three, i nvolvement was limited to the clitoris. Biopsy/surgical excision in tw o of them showed a neurofibroma in one and non-specific hamartomatous soft tissue overgrowth in the other. In the fourth patient, the involv ement was asymmetric and extended to the labia majora and mons pubis. Endocrine studies and chromosomes in all patients were normal; there w as no exposure to androgens, progestins, or coumadin. There was no ges tational history of maternal luteomas. Review of the literature docume nted 26 patients with NF and clitoral involvement. Clitoral involvemen t in NF-1 appears to be more common than previously reported and the d ifferential diagnosis of ambiguous genitalia should include clitoromeg aly due to NF. Pathogenesis of clitoral lesions appears similar to oth er lesions of NF. Biopsy of such lesions appears to be justified only when malignancy is suspected. (C) 1995 Wiley-Liss, Inc.