A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Makaleler > Tam Makale · 2020
Yazarlar: Esra IŞIK, HÜSEYİN ONAY, Tahir ATİK, Aslı ECE SOLMAZ, Samim ÖZEN, Muhsin Özgür ÇOĞULU, Şükran DARCAN, Feriştah Ferda ÖZKINAY
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2020, cilt 12, ss 113-116
DOI: 10.4274/jcrpe.galenos.2019.2019.0023
Özet
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.