A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations.NFNS is characterized by phenotypic features of both neurofibromatosis type 1 (NF1) and Noonan syndrome.Plexiform neurofibromas (PNFs) are an unusual finding in NFNS.A seven year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance.Due to dysmorphic features, a clinical diagnosis of NFNS was considered in the patient and, following molecular analysis, revealed a novel heterozygous c.3052_3056delTTAGT (p.L1018X) variant in the NF1 gene.Although evaluation for genital virilization, including karyotype and hormonal studies were normal, imaging studies revealed a diffuse genital PNF.Although PNFs are seen rarely in NFNS, this should be considered in the differential diagnosis of genital virilization in these patients to prevent unnecessary testing.