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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

Author information

1
Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
2
Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey
3
Subdivision of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

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.

KEYWORDS:

Neurofibromatosis Noonan Syndrome; NF1 gene; abnormal external genitalia

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