Hypothalamic hamartoma: A rare case of central precocious puberty in males
DOI:
https://doi.org/10.33448/rsd-v12i14.44626Keywords:
Puberty precocious central; Hamartoma; Hypothalamic.Abstract
This study reported a rare case of central precocious puberty in a male child, who was 2 years and 4 months old, with a history of gelastic seizures and signs of precocious puberty. The patient, at 1 year and 8 months old, exhibited pubic hair growth, increased penile and testicular size, and the onset of acne. Additionally, the child experienced unprovoked bouts of laughter (gelastic seizures) and daily behavioral changes, including aggression. An MRI examination of the pituitary gland revealed an expansive lesion in the hypothalamic region with partial obliteration of the posterior aspect of the suprasellar cistern and interpeduncular cistern, consistent with hypothalamic hamartoma. Treatment was initiated with GnRH analog and carbamazepine. The patient described here continues to receive pharmacological treatment.
References
Alomari, S. O., Houshiemy, M. N. E., Bsat, S., Moussalem, C. K., Allouh, M., & Omeis, I. A. (2020). Hypothalamic hamartomas: A comprehensive review of the literature – Part 1: Neurobiological features, clinical presentations and advancements in diagnostic tools. Clinical Neurology and Neurosurgery, 197(1), 106076. https://doi.org/10.1016/j.clineuro.2020.106076
Arita, K., Kurisu, K., Iida, K., Hanaya, R., Akimitsu, T., Hibino, S., Pant, B., Hamasaki, M., & Shinagawa, S. (1998). Subsidence of seizure induced by stereotactic radiation in a patient with a hypothalamic hamartoma: Case report. Journal of Neurosurgery, 89(4), 645–648. https://doi.org/10.3171/jns.1998.89.4.0645
Bourdillon, P., Ferrand-Sorbet, S., Apra, C., Chipaux, M., Raffo, E., Rosenberg, S., Bulteau, C., Dorison, N., Bekaert, O., Dinkelacker, V., Le Guérinel, C., Fohlen, M., & Dorfmüller, G. (2021). Surgical treatment of hypothalamic hamartomas. Neurosurgical Review, 44(2), 753–762. https://doi.org/10.1007/s10143-020-01298-z
Boyko, O. B., Curnes, J. T., Oakes, W. J., & Burger, P. C. (1991). Hamartomas of the tuber cinereum: CT, MR, and pathologic findings. American Journal of Neuroradiology, 12(2), 309–314.
Brito, V. N., Spinola-Castro, A. M., Kochi, C., Kopacek, C., Silva, P. C. A. da, & Guerra-Júnior, G. (2016). Central precocious puberty: Revisiting the diagnosis and therapeutic management. Archives of Endocrinology and Metabolism, 60(1), 163–172. https://doi.org/10.1590/2359-3997000000144
Chen, M., & Eugster, E. A. (2015). Central precocious puberty: Update on diagnosis and treatment. Pediatric Drugs, 17(1), 273–281.
Cheuiche, A. V., da Silveira, L. G., de Paula, L. C. P., Lucena, I. R. S., & Silveiro, S. P. (2021). Diagnosis and management of precocious sexual maturation: An updated review. European Journal of Pediatrics, 180(10), 3073–3087. https://doi.org/10.1007/s00431-021-04022-1
Corbet Burcher, G., Liang, H., Lancaster, R., Cross, J. H., Tisdall, M., Varadkar, S., Spoudeas, H. A., Caredda, E., Bennett, S., & Heyman, I. (2019). Neuropsychiatric profile of paediatric hypothalamic hamartoma: Systematic review and case series. Developmental Medicine & Child Neurology, 61(12), 1377–1385. https://doi.org/10.1111/dmcn.14241
Delalande, O., & Fohlen, M. (2003). Disconnecting Surgical Treatment of Hypothalamic Hamartoma in Children and Adults With Refractory Epilepsy and Proposal of a New Classification. Neurologia medico-chirurgica, 43(2), 61–68. https://doi.org/10.2176/nmc.43.61
D’Souza, D., El-Feky, M., & Knipe, H. (2008). Hypothalamic hamartoma | Radiology Reference Article | Radiopaedia.org. Radiopaedia.org, 1(1), 11. https://doi.org/10.53347/rID-1485
Eugster, E. A. (2019). Treatment of Central Precocious Puberty. Journal of the Endocrine Society, 3(5), 965–972. https://doi.org/10.1210/js.2019-00036
Guaraldi, F., Beccuti, G., Gori, D., & Ghizzoni, L. (2016). Management of endocrine disease: Long-term outcomes of the treatment of central precocious puberty. European Journal of Endocrinology, 174(3), R79–R87. https://doi.org/10.1530/EJE-15-0590
Harrison, V. S., Oatman, O., & Kerrigan, J. F. (2017). Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity. Epilepsia, 58(S2), 50–59. https://doi.org/10.1111/epi.13756
Iapadre, G., Zagaroli, L., Cimini, N., Belcastro, V., Concolino, D., Coppola, G., Del Giudice, E., Farello, G., Iezzi, M. L., Margari, L., Matricardi, S., Orsini, A., Parisi, P., Piccioli, M., Di Donato, G., Savasta, S., Siliquini, S., Spalice, A., Striano, S., & Verrotti, A. (2020). Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study. Epilepsy & Behavior, 103(1), 5. https://doi.org/10.1016/j.yebeh.2019.106578
Judge, D. M., Kulin, H. E., Page, R., Santen, R., & Trapukdi, S. (1977). Hypothalamic hamartoma: A source of luteinizing-hormone-releasing factor in precocious puberty. New England Journal of Medicine, 296(1), 7–10.
Kaplowitz, P. B. (2020). Update on Precocious Puberty: Who Should Be Treated? Advances in Pediatrics, 67(1), 93–104. https://doi.org/10.1016/j.yapd.2020.04.003
Kerrigan, J. F., Parsons, A., Tsang, C., Simeone, K., Coons, S., & Wu, J. (2017). Hypothalamic hamartoma: Neuropathology and epileptogenesis. Epilepsia, 58(1), 22–31.
Kosteria, I., Gavra, M. M., Verganelakis, D. A., Dikaiakou, E., Vartzelis, G., & Vlachopapadopoulou, E.-A. (2023). In vivo magnetic resonance spectroscopy for the differential diagnosis of a cerebral mass in a boy with precocious puberty: A case report and review of the literature. Hormones, 1(1), 7. https://doi.org/10.1007/s42000-023-00458-2
Lombardi, G., Gerbella, M., Marchi, M., Sciutti, A., Rizzolatti, G., & Di Cesare, G. (2023). Investigating form and content of emotional and non-emotional laughing. Cerebral Cortex, 33(7), 4164–4172. https://doi.org/10.1093/cercor/bhac334
Lu, D., Wang, T., Yang, Y., Fan, X., Chen, S., Wei, P., Shan, Y., & Zhao, G. (2023). Advances in hypothalamic hamartoma research over the past 30 years (1992–2021): A bibliometric analysis. Frontiers in Neurology, 14(1), 11.
Mirandola, L., Cantalupo, G., d’Orsi, G., Meletti, S., Vaudano, A. E., Di Vito, L., Vignoli, A., Tassi, L., & Pelliccia, V. (2023). Ictal semiology of gelastic seizures. Epilepsy & Behavior, 140(1), 109025. https://doi.org/10.1016/j.yebeh.2022.109025
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia da pesquisa científica. Brasil. http://repositorio.ufsm.br/handle/1/15824
Ramos, C. O., Latronico, A. C., Cukier, P., Macedo, D. B., Bessa, D. S., Cunha-Silva, M., Arnhold, I. J., Mendonca, B. B., & Brito, V. N. (2017). Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects. Neuroendocrinology, 106(3), 203–210. https://doi.org/10.1159/000477584
Suh, J., Choi, Y., Oh, J. S., Song, K., Choi, H. S., Kwon, A., Chae, H. W., & Kim, H.-S. (2021). Management of Central Precocious Puberty in Children with Hypothalamic Hamartoma. Children, 8(8), Artigo 8. https://doi.org/10.3390/children8080711
Talami, F., Vaudano, A. E., & Meletti, S. (2020). Motor and Limbic System Contribution to Emotional Laughter across the Lifespan. Cerebral Cortex, 30(5), 3381–3391. https://doi.org/10.1093/cercor/bhz316
Valdueza, J. M., Cristante, L., Dammann, O., Bentele, K., Vortmeyer, A., Saeger, W., Padberg, B., Freitag, J., & Herrmann, H.-D. (1994). Hypothalamic Hamartomas: With Special Reference to Gelastic Epilepsy and Surgery. Neurosurgery, 34(6), 949.
Wu, J., Gao, M., Shen, J.-X., Qiu, S.-F., & Kerrigan, J. F. (2015). Mechanisms of intrinsic epileptogenesis in human gelastic seizures with hypothalamic hamartoma. CNS neuroscience & therapeutics, 21(2), 104–111.
Zaatreh, M., Tennison, M., & Greenwood, R. S. (2000). Successful treatment of hypothalamic seizures and precocious puberty with GnRH analogue. Neurology, 55(12), 1908–1910. https://doi.org/10.1212/WNL.55.12.1908
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Ana Cecília Borges Almeida; Sandra Regina Chahuan Tobji Hernandes
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
