A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia J Clin Res Pediatr Endocrinol. 2019 May 15;: Authors: Isik E, Onay H, Atik T, Solmaz AE, Ozen S, Cogulu O, Darcan S, Ozkinay F Abstract Neurofibromatosis Noonan Syndrome (NFNS) is a rare RASopathy syndrome, resulted from NF1 gene mutations. NFNS is characterized by phenotypic features of both Neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas are an unusual finding of NFNS. A 7 year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance. Regarding 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 NF1 gene. Although evaluation for genital virilization including karyotype and hormonal studies were resulted normal, imaging studies revealed a diffuse genital plexiform neurofibroma. Although plexiform neurofibromas are seen rarely, should be considered in the differential diagnosis of genital virilization in NFNS patients to prevent unnecessary laboratory tests. PMID: 31088041 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research