ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2020; 12(1): 113-116 | DOI: 10.4274/jcrpe.galenos.2019.2019.0023

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

Esra Işık1, Hüseyin Onay2, Tahir Atik1, Aslı Ece Solmaz2, Samim Özen3, Özgür Çoğulu4, Şükran Darcan3, Ferda Özkınay4
1Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey
2Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey
3Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, Turkey
4Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey & Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey

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.

Keywords: Neurofibromatosis Noonan syndrome, NF1 gene, abnormal external genitalia

Esra Işık, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Samim Özen, Özgür Çoğulu, Şükran Darcan, Ferda Özkınay. A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia. J Clin Res Pediatr Endocrinol. 2020; 12(1): 113-116
Manuscript Language: English
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