Ann Clin Case Rep | Volume 6, Issue 1 | Case Report | Open Access

A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1

Zeindine Sirena* and Al Ebrahem Asad

Department of Pediatrics, General Authority for Pediatric Hospital, Syria

*Correspondance to: Zeindine Sirena 

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Neurofibromatosis type 1, also called Von Recklinghausen disease is a genetic disorder characterized by the development of multiple benign tumors affecting the skin and nervous system. It is a genetic disease with a prevalence of one case in 3,000 births. The cause of VRD is a genetic mutation. In half of all cases of NF1, the faulty gene is passed from a parent to their child. Clitoromegaly presenting in childhood can be congenital or acquired. Non-hormonal causes like NF1, epidermoid cysts, tumor syndromes have been reported. Clitoris enlargement is a frequently seen congenital malformation, but acquired clitoral enlargement is rarely detected. While most cases of VRD are the result of a genetic mutation in the neurofibromin gene, there are also acquired cases due to spontaneous mutations. The pathological alterations behind it begin in the embryonic period, prior to differentiation of the neural crest. We report a case of 6.5 year-old-female admitted for clitoromegaly and an apparent deformity of the genital organs. The girl has been diagnosed with clitoromegaly in the context of NF1 Disease. This patient was successfully treated by clitoroplasty. The biopsied clitoral tissue was sent to pathology and revealed plexiform neurofibroma.


NF1; Von Recklinghausen disease; Clitoromegaly; Clitoroplasty; Child


Sirena Z, Asad AE. A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1. Ann Clin Case Rep. 2021; 6: 1904.

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