{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T21:12:59Z","timestamp":1782681179346,"version":"3.54.5"},"reference-count":19,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,3,17]]},"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:p>Hypothalamic hamartomas are uncommon congenital malformations that present as precocious puberty, gelastic seizures and\/or psychiatric disorders. Characteristic changes in MRI scans lead to a diagnosis. Treatment may include surgery or gonadotropin-releasing hormone agonists (GnRHa) depending on clinical manifestations.<\/jats:p>\n               <jats:p>Here, we describe a case of hypothalamic hamartoma diagnosed in a girl in middle childhood, who presented with early development of secondary sexual characteristics. Physical examination, hormonal study, bone age and pelvic ultrasound findings were consistent with those of precocious puberty. The investigation also included a brain MRI scan, which revealed a small nodule with regular limits in the left hypothalamic region\/tuber cinereum. GnRHa treatment and neurosurgical follow-ups were initiated promptly. The patient showed a reversal of secondary sexual characteristics and stable hamartoma size. This case illustrates the importance of brain MRI scans as part of the assessment of suspected precocious puberty because clinical features do not identify patients with an underlying pathology.<\/jats:p>","DOI":"10.1136\/bcr-2022-254429","type":"journal-article","created":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T11:20:22Z","timestamp":1679656822000},"page":"e254429","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Hypothalamic hamartoma: a cause of precocious puberty"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8250-7996","authenticated-orcid":false,"given":"Carolina","family":"Castro","sequence":"first","affiliation":[{"name":"Pediatrics, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9662-5889","authenticated-orcid":false,"given":"Joana","family":"Machado Morais","sequence":"additional","affiliation":[{"name":"Pediatrics, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lu\u00edsa","family":"Correia","sequence":"additional","affiliation":[{"name":"Pediatrics, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Espada","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology, Hospital Pedro Hispano, Matosinhos, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,3,24]]},"reference":[{"key":"2025082707022898000_16.3.e254429.1","article-title":"Management of central precocious puberty in children with hypothalamic hamartoma","volume":"8","author":"Suh","year":"2021","journal-title":"Children (Basel)"},{"key":"2025082707022898000_16.3.e254429.2","unstructured":"Kerrigan JF . Home - nord (national organization for rare disorders). Hypothalamic hamartoma. 2017. Available: https:\/\/rarediseases.org\/rare-diseases\/hypothalamic-hamartoma\/ [Accessed 21 Jan 2023]."},{"key":"2025082707022898000_16.3.e254429.3","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1212\/WNL.0000000000012773","article-title":"Hypothalamic hamartomas: evolving understanding and management","volume":"97","author":"Cohen","year":"2021","journal-title":"Neurology"},{"key":"2025082707022898000_16.3.e254429.4","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1007\/s10143-021-01512-6","article-title":"Is surgery effective for treating hypothalamic hamartoma causing isolated central precocious puberty? A systematic review","volume":"44","author":"Agrawal","year":"2021","journal-title":"Neurosurg Rev"},{"key":"2025082707022898000_16.3.e254429.5","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/S0090-3019(02)00694-8","article-title":"Microsurgical treatment for hypothalamic hamartoma in children with precocious puberty","volume":"57","author":"Luo","year":"2002","journal-title":"Surg Neurol"},{"key":"2025082707022898000_16.3.e254429.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2012.02.013"},{"key":"2025082707022898000_16.3.e254429.7","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-5-20","article-title":"Joubert syndrome and related disorders","volume":"5","author":"Brancati","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"2025082707022898000_16.3.e254429.8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-022018"},{"key":"2025082707022898000_16.3.e254429.9","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1159\/000308162","article-title":"Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1","volume":"73","author":"Chan","year":"2010","journal-title":"Horm Res Paediatr"},{"key":"2025082707022898000_16.3.e254429.10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1024"},{"key":"2025082707022898000_16.3.e254429.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp0800459"},{"key":"2025082707022898000_16.3.e254429.12","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1515\/JPEM.2002.15.8.1173","article-title":"Precocious puberty: clinical and endocrine profile and factors indicating neurogenic precocity in Indian children","volume":"15","author":"Bajpai","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2025082707022898000_16.3.e254429.13","doi-asserted-by":"crossref","first-page":"3073","DOI":"10.1007\/s00431-021-04022-1","article-title":"Diagnosis and management of precocious sexual maturation: an updated review","volume":"180","author":"Cheuiche","year":"2021","journal-title":"Eur J Pediatr"},{"key":"2025082707022898000_16.3.e254429.14","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/epi.13756","article-title":"Hypothalamic hamartoma with epilepsy: review of endocrine comorbidity","volume":"58 Suppl 2","author":"Harrison","year":"2017","journal-title":"Epilepsia"},{"key":"2025082707022898000_16.3.e254429.15","doi-asserted-by":"crossref","unstructured":"Jung H , Parent A-S , Ojeda SR . Hypothalamic hamartoma: a paradigm\/model for studying the onset of puberty. 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