Clitoromegaly in neurofibromatosis

Abstract

Genitourinary neurofibromas are rare and clitoral involvement in neurofibromatosis (NF) has been reported infrequently. However, when it occurs, clitoromegaly is often the presenting sign. In many cases, it is congenital. In 236 families with type 1 neurofibromatosis (NF-1) evaluated through the USF Regional Genetics Program between January 1982 and September 1993, four patients had clitoral involvement. In three, involvement was limited to the clitoris. Biopsy/surgical excision in two of them showed a neurofibroma in one and non-specific hamartomatous soft tissue overgrowth in the other. In the fourth patient, the involvement was asymmetric and extended to the labia majora and mons pubis. Endocrine studies and chromosomes in all patients were normal; there was no exposure to androgens, progestins, or coumadin. There was no gestational history of maternal luteomas. Review of the literature documented 26 patients with NF and clitoral involvement. Clitoral involvement in NF-1 appears to be more common than previously reported and the differential diagnosis of ambiguous genitalia should include clitoromegaly due to NF. Pathogenesis of clitoral lesions appears similar to other lesions of NF. Biopsy of such lesions appears to be justified only when malignancy is suspected.

Chronic renal failure and macrogenitalia associated with genitourinary neurofibromatosis

“…Neurofibroma involving external genitalia in males has been reported as a solitary penile mass or as being associated with the bladder and other pelvic organs [6,8,[10][11][12]. Involvement of the scrotum has been reported in several patients [4,9,10]. Our patient had solitary plexiform neurofibromas of the penis and scrotum mimicking macrogenitalia.…”

“…These plexuses are anatomically contiguous with the distal ureters, and if genital involvement is present, the bladder and lower ureters are also commonly affected [8]. In females, involvement of the clitoris, bladder, and labia major have been reported at frequencies of 57, 20, and 27%, respectively [9]. Neurofibroma involving external genitalia in males has been reported as a solitary penile mass or as being associated with the bladder and other pelvic organs [6,8,[10][11][12].…”

Clitoromegaly in Childhood and Adolescence: Behind One Clinical Sign, a Clinical Sea

“…Participation of the clitoris alone has been reported infrequently, but in such cases the first sign is clitoromegaly. In a study of 236 families with type 1 neurofibromatosis, 4 patients had clitoral involvement, and in 3 of them the lesion was limited to the clitoris [Sutphen et al, 1995]. In childhood, several cases have been described secondary to a localized neurofibroma infiltrating the clitoral body, which in very rare cases involved the dorsal clitoral hood [Cost et al, 2009].…”

Reproductive disturbances in multiple neuroendocrine tumor syndromes

“…In NF1 vaginal neurofibromatosis, rhabdomyosarcomas of the genitourinary tract and clitoromegaly are rare manifestations (Griebel et al 1991, Sutphen et al 1995, Sharma et al 2004, Lisewski et al 2006, Baulies et al 2008.…”