{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T17:06:59Z","timestamp":1776272819527,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,3,29]]},"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>Primary amenorrhoea is defined as the absence of menarche by 15 years of age in individuals with normal secondary sexual characteristics and is most commonly due to constitutional delay, gonadal dysgenesis or outflow tract abnormalities. We describe an adolescent female who presented with isolated primary amenorrhoea despite normal pubertal onset and progression and no neurological symptoms. Biochemical evaluation demonstrated a central hypothalamic\u2013pituitary pattern of hypogonadism, prompting neuroimaging. MRI revealed a large intraventricular mass causing obstructive hydrocephalus with compression of the hypothalamic\u2013pituitary axis, alongside multifocal intracranial disease and spinal drop metastases. Integrated multidisciplinary assessment confirmed rosette-forming glioneuronal tumour, a rare central nervous system neoplasm. Management required combined neurosurgical and endocrine input, including cerebrospinal fluid diversion, subtotal tumour debulking and proton beam craniospinal irradiation. This case highlights that central nervous system pathology should be considered in unexplained primary amenorrhoea, even in the absence of neurological symptoms.<\/jats:p>","DOI":"10.1136\/bcr-2025-270294","type":"journal-article","created":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T16:25:17Z","timestamp":1776270317000},"page":"e270294","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Metastatic rosette-forming glioneuronal tumour presenting as isolated primary amenorrhoea"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-9649-5117","authenticated-orcid":false,"given":"Maria","family":"Gabriel","sequence":"first","affiliation":[{"name":"Geriatric Medicine, Wye Valley NHS Trust, Hereford, Herefordshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Pohl","sequence":"additional","affiliation":[{"name":"Department of Cellular Pathology, Queen Elizabeth Hospital Birmingham Pathology Department, Birmingham, England, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hafiz Sohail","family":"Kamran","sequence":"additional","affiliation":[{"name":"Diabetes and Endocrinology, Wye Valley NHS Trust, Hereford, Herefordshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raveesh","family":"Hanasoge","sequence":"additional","affiliation":[{"name":"Radiology, Wye Valley NHS Trust, Hereford, Herefordshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyothish","family":"Govindan","sequence":"additional","affiliation":[{"name":"Diabetes and Endocrinology, Wye Valley NHS Trust, Hereford, Herefordshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,4,15]]},"reference":[{"key":"2026041509251200000_19.4.e270294.1","unstructured":"Assessment of primary amenorrhoea - differential diagnosis of symptoms | BMJ best practice. BMJ Publishing Group; 2025. Available: https:\/\/bestpractice.bmj.com\/topics\/en-gb\/1101"},{"key":"2026041509251200000_19.4.e270294.2","first-page":"39","article-title":"Amenorrhea: A Systematic Approach to Diagnosis and Management","volume":"100","author":"Klein","year":"2019","journal-title":"Am Fam Physician"},{"key":"2026041509251200000_19.4.e270294.3","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001215"},{"key":"2026041509251200000_19.4.e270294.4","doi-asserted-by":"crossref","unstructured":"Practice Committee of the American Society for Reproductive Medicine . Current evaluation of amenorrhea: a committee opinion. Fertil Steril 2024;122. doi:10.1016\/j.fertnstert.2024.02.001","DOI":"10.1016\/j.fertnstert.2024.02.001"},{"key":"2026041509251200000_19.4.e270294.5","doi-asserted-by":"crossref","unstructured":"Gaspari L , Paris F , Kalfa N , et al . Primary Amenorrhea in Adolescents: Approach to Diagnosis and Management. Fertil Steril 2024.","DOI":"10.3390\/endocrines4030038"},{"key":"2026041509251200000_19.4.e270294.6","doi-asserted-by":"crossref","unstructured":"Liu J , Lin F , Sun Y , et al . n.d. Clinicopathological analysis of rosette-forming glioneuronal tumors. Diagn Pathol 19. doi:10.1186\/s13000-024-01465-6","DOI":"10.1186\/s13000-024-01465-6"},{"key":"2026041509251200000_19.4.e270294.7","doi-asserted-by":"crossref","DOI":"10.3390\/biomedicines12102325","article-title":"The Clinical and Molecular Landscape of Rosette-Forming Glioneuronal Tumors","volume":"12","author":"Yang","year":"2024","journal-title":"Biomedicines"},{"key":"2026041509251200000_19.4.e270294.8","article-title":"Rosette-forming glioneuronal tumor: an illustrative case and a systematic review","volume":"2","author":"Wilson","year":"2020","journal-title":"Neurooncol Adv"},{"key":"2026041509251200000_19.4.e270294.9","doi-asserted-by":"crossref","first-page":"e4886","DOI":"10.1210\/clinem\/dgaa679","article-title":"Hormone References for Ultrasound Breast Staging and Endocrine Profiling to Detect Female Onset of Puberty","volume":"105","author":"Madsen","year":"2020","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"2026041509251200000_19.4.e270294.10","doi-asserted-by":"publisher","DOI":"10.1111\/cen.15097"},{"key":"2026041509251200000_19.4.e270294.11","first-page":"101183","article-title":"The normal menstrual cycle","volume":"52","author":"Itriyeva","year":"2022","journal-title":"Curr Probl Pediatr Adolesc Health Care"},{"key":"2026041509251200000_19.4.e270294.12","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp1109290"},{"key":"2026041509251200000_19.4.e270294.13","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijscr.2023.108054","article-title":"Recurrent anaplastic transformation of a Vermian region rosette forming glioneuronal tumour - A rare entity. Case report and review of literature","volume":"105","author":"James","year":"2023","journal-title":"Int J Surg Case Rep"},{"key":"2026041509251200000_19.4.e270294.14","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-010-0335-1"},{"key":"2026041509251200000_19.4.e270294.15","doi-asserted-by":"crossref","unstructured":"Kwon SM , Kim JH , Byun J , et al . Malignant transformation of a rosette-forming glioneuronal tumor to glioblastoma. 2019 Available: https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1878875019315839 \u200c","DOI":"10.1016\/j.wneu.2019.06.042"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-270294","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T16:25:19Z","timestamp":1776270319000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-270294"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4,15]]},"published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1136\/bcr-2025-270294"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-270294","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]}}}