{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T06:16:18Z","timestamp":1792304178483,"version":"4.4.0"},"reference-count":9,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Plexiform neurofibroma (PN) involvement of the external genitalia in patients with neurofibromatosis type I (NF1) is a rare cause of nonhormonal clitoromegaly. We present a 3-year-old female with known NF1 who presented with clitoromegaly. She was identified with an extensive pelvic mass involving the bladder wall, perineum, labia, clitoris, rectum, and sacral foramina. A partial cystectomy was performed, and histopathology was consistent with PN. She has been initiated on a mitogen activated protein kinase enzyme kinase inhibitor, trametinib, which has been effective in achieving partial radiographic response of the bladder mass over 5 months. Additionally, she has experienced clinical response to trematinib with resolution of urinary urgency and frequency since initiating treatment.<\/jats:p>","DOI":"10.1055\/s-0040-1715638","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T20:24:55Z","timestamp":1598905495000},"page":"139-143","source":"Crossref","is-referenced-by-count":3,"title":["Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor"],"prefix":"10.53391","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5962-0835","authenticated-orcid":false,"given":"Richelle C.","family":"Waldner","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Rojas-Vasquez","sequence":"additional","affiliation":[{"name":"Division of Immunology, Department of Pediatrics, Hematology, Oncology and Palliative Care, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D.","family":"Metcalfe","sequence":"additional","affiliation":[{"name":"Division of Urology, Department of Surgery, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea M.","family":"Haqq","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Department of Pediatrics, University of Alberta, Edmonton, Alberta, 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