A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Open Access
- 1 March 2020
- journal article
- research article
- Published by Galenos Yayinevi in Journal of Clinical Research in Pediatric Endocrinology
- Vol. 12 (1), 113-116
- https://doi.org/10.4274/jcrpe.galenos.2019.2019.0023
Abstract
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.This publication has 15 references indexed in Scilit:
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