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J Clin Res Pediatr Endocrinol. 2019 May 15. doi: 10.4274/jcrpe.galenos.2019.2019.0023. [Epub ahead of print]

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

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Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey
Subdivision of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey


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.


Neurofibromatosis Noonan Syndrome; NF1 gene; abnormal external genitalia

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