Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series Authors Versha Rani Rai Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan Heeranand Rathore Department of Paediatric Endocrinology, National Institute of Child Health, Karachi, Pakistan Manisha Kumari Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan Mohsina Noor Ibrahim Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan Maira Riaz Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan Roshia Parveen Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.10955 Keywords: neurofibromatosis, delayed puberty, early puberty, genetics Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as “Neurofibromin”, which acts as an inhibitor of oncogene RAS. This gene mutation causes tumours to grow on nerves which results in other systemic abnormalities such as skin changes, bone and eye abnormalities, hormonal imbalances, and diversity in achievement of puberty with neurologic complications. NF1 has a wide variety of associations in context with puberty. It is important to determine the cause of precocious and delayed puberty in order to establish an early treatment plan, to lead a successful prognosis, and decrease complications. The case reports of two patients presenting with dichotomous pubertal variation in association with NF1 are presented. Keywords: Neurofibromatosis, Delayed puberty, Early puberty, Genetics. Downloads Full Text Article Published 2024-08-23 How to Cite Rai, V. R., Heeranand Rathore, Manisha Kumari, Mohsina Noor Ibrahim, Maira Riaz, & Roshia Parveen. (2024). Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: a case series. Journal of the Pakistan Medical Association, 74(9), 1703–1706. https://doi.org/10.47391/JPMA.10955 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 74 No. 9 (2024): SEPTEMBER Section Case Report License Copyright (c) 2024 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.