Clitoral Neurofibroma Masquerading as Disorder of Sexual Development: A Case Report
Aditi Dandawate, Naresh Gaikwad, Nilima Narkhede, Vikas KavishwarAbstract
Background:
Genitourinary neurofibromatosis (NF) is an uncommon cause of ambiguous genitalia. Clitoromegaly due to neurofibromatous involvement has rarely been reported.
Clinical Description:
A 10-year-old girl presented with enlargement of the clitoris noticed since 3 years of age, associated with growth of pubic hair and a large hyperpigmented patch covering the perineum. Her mother was a clinically diagnosed case of NF. On examination, the child was anthropometrically normal for age, with Tanner Stage III. The clitoris was enlarged, measuring 5 cm in length. There were 7–8 café-au-lait spots on the trunk, axillary freckling, and Lisch nodules in both eyes.
Management and Outcome:
Baseline routine laboratory investigations were normal, and hormonal workup was consistent with prepubertal status. The X-ray showed bone age corresponding with chronological age. Ultrasound showed no abnormal internal genitourinary structures. The patient underwent nerve-sparing clitoroplasty, and histological examination confirmed the diagnosis of NF.
Conclusion:
Neurofibroma of the clitoris may be kept in mind while evaluating a child with ambiguous genitals, especially in the setting of family history.