Crecer más allá de los Esperado: Acromegalia en Pacientes Pediátricos
Palabras clave:
acromegalia, gigantismo, hormona del crecimiento, pediatría, neoplasias hipofisarias
Resumen
La acromegalia es un trastorno raro caracterizado por la producción excesiva de hormona del crecimiento (GH) y niveles elevados del factor de crecimiento similar a la insulina tipo 1 (IGF-1). Si bien esta condición es más común en adultos, su aparición en la población pediátrica plantea desafíos diagnósticos y terapéuticos(Chiloiro et al., 2022; Fleseriu et al., 2022). La incidencia de esta patología en población pediátrica es incierta, dado lo poco frecuente; sin embargo se estima representa menos del 5% de todos los casos reportados de acromegalia en el mundo, la gran mayoría relacionados con la presencia de adenomas hipofisarios, seguidos de alteraciones genéticas como la Neoplasia Endocrina Múltiple tipo 1 (MEN1) y el Complejo de Carney(Aldallal, 2018). La hiperproducción de GH antes del cierre de las placas epifisiarias ocasiona un fenómeno clínico conocido como gigantismo, manifestándose como un crecimiento lineal acelerado, resultando en tallas excesivas para la edad y sexo con proporciones corporales conservadas; mientras que la acromegalia ocurre después del cierre de las placas epifisiarias, presentándose con crecimiento acral, engrosamiento de tejidos blandos, rasgos faciales toscos y diferentes disfunciones metabólicas, las cuales no son fácilmente identificables al inicio de la enfermedad, que conlleva al diagnóstico tardío de la misma y por ende a complicaciones de importancia clínica(Bogusławska & Korbonits, 2021; Katznelson et al., 2014; Zhu et al., 2024). Por lo tanto constituye un reto diagnóstico, y aunque se cuenta con diferentes avances terapéuticos descritos en los últimos años como los agonistas de dopamina y antagonistas del receptor de GH, es imperativo individualizar cada caso, con el fin de lograr una óptima respuesta terapéutica(Chin et al., 2019).
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Abreu Lomba, A., Corredor-Rengifo, D., Mejia Velez, C. A., Carvajal Ortiz, R., Pantoja Guerrero, D., Arenas, H. M., Castellanos Pinedo, A. A., Morales Garcia, M. A., Pinzon Tovar, A., Vernaza Trujillo, D. A., & Sierra Castillo, S. (2024). Biochemical Control in a Colombian Cohort of Patients With Acromegaly: A 12-Month Follow-Up Study (2017-2023). Cureus, 16(12).
https://doi.org/10.7759/cureus.75553
Aldallal, S. (2018). Acromegaly: A challenging condition to diagnose. International Journal of General Medicine, 11, 337–343. https://doi.org/10.2147/IJGM.S169611
Bogusławska, A., & Korbonits, M. (2021). Genetics of acromegaly and gigantism. Journal of Clinical Medicine, 10(7), 1–24. https://doi.org/10.3390/jcm10071377
Chanson, P., & Salenave, S. (2008). Acromegaly. Orphanet Journal of Rare Diseases, 3(1), 1–17.
https://doi.org/10.1186/1750-1172-3-17
Chiloiro, S., Giampietro, A., Gagliardi, I., Bondanelli, M., Veleno, M., Ambrosio, M. R., Zatelli, M. C., Pontecorvi, A., Giustina, A., De Marinis, L., & Bianchi, A. (2022). Impact of the diagnostic delay of acromegaly on bone health: data from a real life and long term follow-up experience. Pituitary, 25(6), 831–841. https://doi.org/10.1007/s11102-022-01266-4
Chin, S. O., Ku, C. R., Kim, B. J., Kim, S. W., Park, K. H., Song, K. H., Oh, S., Yoon, H. K., Lee, E. J., Lee, J. M., Lim, J. S., Kim, J. H., Kim, K. J., Jin, H. Y., Kim, D. J., Lee, K. A., Moon, S. S., Lim, D. J., Shin, D. Y., … Kim, C. H. (2019). Medical treatment with somatostatin analogues in acromegaly: Position statement. Endocrinology and Metabolism, 34(1), 53–59.
https://doi.org/10.3803/EnM.2019.34.1.53
Coghlan, R. F., Oberdorf, J. A., Sienko, S., Aiona, M. D., Boston, B. A., Connelly, K. J., Bahney, C., LaRouche, J., Almubarak, S. M., Coleman, D. T., Girkontaite, I., Mark, K. von der, Lunstrum, G. P., & Horton, W. A. (2017). A degradation fragment of type X collagen is a real-time marker for bone growth velocity. Science Translational Medicine, 9(419).
https://doi.org/10.1126/scitranslmed.aan4669
Cordido, F., García Arnés, J. A., Marazuela Aspiroz, M., & Torres Vela, E. (2013). Practical guidelines for diagnosis and treatment of acromegaly. Endocrinología y Nutrición (English Edition), 60(8), 457.e1-457.e15. https://doi.org/10.1016/j.endoen.2013.10.012
Daniel, C. P., Wagner, M. J., Borne, G. E., Plaisance, C. J., Ahmadzadeh, S., Aquino, A., Shekoohi, S., Kaye, A. M., Cornett, E. M., & Kaye, A. D. (2023). Acromegaly: Pathophysiological Considerations and Treatment Options Including the Evolving Role of Oral Somatostatin Analogs. Pathophysiology, 30(3), 377–388. https://doi.org/10.3390/pathophysiology30030029
Elongation, P. B. (2021). HHS Public Access. 18(3), 210–227. https://doi.org/10.1007/s11914-020-00570-x.The
Ershadinia, N., & Tritos, N. A. (2022). Diagnosis and Treatment of Acromegaly: An Update. Mayo Clinic Proceedings, 97(2), 333–346. https://doi.org/10.1016/j.mayocp.2021.11.007
Farrell, W. E., Azevedo, M. F., Batista, D. L., Smith, A., Bourdeau, I., Horvath, A., Boguszewski, M., Quezado, M., & Stratakis, C. A. (2011). Unique gene expression profile associated with an early-onset Multiple Endocrine Neoplasia (MEN1)-associated pituitary adenoma. Journal of Clinical Endocrinology and Metabolism, 96(11), 1905–1914. https://doi.org/10.1210/jc.2011-1127
Fleseriu, M., Langlois, F., Lim, D. S. T., Varlamov, E. V., & Melmed, S. (2022). Acromegaly: pathogenesis, diagnosis, and management. The Lancet Diabetes and Endocrinology, 10(11), 804–826. https://doi.org/10.1016/S2213-8587(22)00244-3
Gadelha, M. R., Gadelha, A. C., & Kasuki, L. (2024). New Treatments for Acromegaly in Development. Journal of Clinical Endocrinology and Metabolism, 109(4), e1323–e1327.
https://doi.org/10.1210/clinem/dgad568
Giustina, A., Biermasz, N., Casanueva, F. F., Fleseriu, M., Mortini, P., Strasburger, C., van der Lely, A. J., Wass, J., Melmed, S., Banfi, G., Barkan, A., Beckers, A., Bidlingmaier, M., Boguszewski, C., Brue, T., Buchfelder, M., Chanson, P., Chiloiro, S., Colao, A., … Zatelli, M. C. (2024). Consensus on criteria for acromegaly diagnosis and remission. Pituitary, 27(1), 7–22.
https://doi.org/10.1007/s11102-023-01360-1
Herder, W. W. (2009). Acromegaly and gigantism in the medical literature. Case descriptions in the era before and the early years after the initial publication of Pierre Marie (1886). Pituitary, 12(3), 236–244. https://doi.org/10.1007/s11102-008-0138-y
Hossain, B., & Drake, W. M. (2013). Acromegaly. Medicine (United Kingdom), 41(9), 512–515.
https://doi.org/10.1016/j.mpmed.2013.06.013
Katznelson, L., Laws, E. R., Melmed, S., Molitch, M. E., Murad, M. H., Utz, A., & Wass, J. A. H. (2014). Acromegaly: An endocrine society clinical practice guideline. Journal of Clinical Endocrinology and Metabolism, 99(11), 3933–3951. https://doi.org/10.1210/jc.2014-2700
Khandelwal, D., Khadgawat, R., Mukund, A., & Suri, A. (2011). Acromegaly with no pituitary adenoma and no evidence of ectopic source. Indian Journal of Endocrinology and Metabolism, 15(7), 250. https://doi.org/10.4103/2230-8210.84878
Lytras, A., & Tolis, G. (2006). Growth Hormone-Secreting Tumors: Genetic Aspects and Data from Animal Models. Neuroendocrinology, 83, 166–178. https://doi.org/10.1159/000095525
Marques, P., Sapinho, I., & Korbonits, M. (2024). Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review. Clinical Endocrinology, 100(6), 542–557.
https://doi.org/10.1111/cen.15053
Ogedegbe, O. J., Cheema, A. Y., Khan, M. A., Junaid, S. Z. S., Erebo, J. K., Ayirebi-Acquah, E., Okpara, J., Bofah, D., Okon, J. G., Munir, M., Alugba, G., Ezekiel, A., Okun, O., Ojo, T. K., Mejulu, E. O., & Jimoh, A. (2022). A Comprehensive Review of Four Clinical Practice Guidelines of Acromegaly. Cureus, 14(9). https://doi.org/10.7759/cureus.28722
Peng, S., Liu, Q., Teng, Y., Huang, B., Liu, Z., Li, M., Liang, J., Zhang, Y., & Wang, M. (2023). A worldwide bibliometric analysis of acromegaly in the past two decades: 1999–2022. Frontiers in Neuroscience, 17(July), 1–11. https://doi.org/10.3389/fnins.2023.1187820
Rhee, N., Jeong, K., Yang, E. M., & Kim, C. J. (2014). Gigantism caused by growth hormone secreting pituitary adenoma. Annals of Pediatric Endocrinology & Metabolism, 19(2), 96.
https://doi.org/10.6065/apem.2014.19.2.96
Rostomyan, L., & Beckers, A. (2016). Screening for genetic causes of growth hormone hypersecretion. Growth Hormone and IGF Research, 30–31, 52–57. https://doi.org/10.1016/j.ghir.2016.10.004
Rostomyan, L., Daly, A. F., Petrossians, P., Nachev, E., Lila, A. R., Lecoq, A. L., Lecumberri, B., Trivellin, G., Salvatori, R., Moraitis, A. G., Holdaway, I., Kranenburg-Van Klaveren, D. J., Zatelli, M. C., Palacios, N., Nozieres, C., Zacharin, M., Ebeling, T., Ojaniemi, M., Rozhinskaya, L., … Beckers, A. (2015). Clinical and genetic characterization of pituitary gigantism: An international collaborative study in 208 patients. Endocrine-Related Cancer, 22(5), 745–757.
https://doi.org/10.1530/ERC-15-0320
Zhang, S., Wan, F., Guo, D., & Lei, T. (2012). Targeting Raf/MEK/ERK pathway in pituitary adenomas. European Journal of Cancer, 48(3), 389–395. https://doi.org/10.1016/j.ejca.2011.11.002
Zhu, Y., Chen, J., Zhang, Y., Wang, X., & Wang, J. (2024). Immunosuppressive agents for frequently relapsing/steroid-dependent nephrotic syndrome in children: a systematic review and network meta-analysis. Frontiers in Immunology, 15(February).
https://doi.org/10.3389/fimmu.2024.1310032
https://doi.org/10.7759/cureus.75553
Aldallal, S. (2018). Acromegaly: A challenging condition to diagnose. International Journal of General Medicine, 11, 337–343. https://doi.org/10.2147/IJGM.S169611
Bogusławska, A., & Korbonits, M. (2021). Genetics of acromegaly and gigantism. Journal of Clinical Medicine, 10(7), 1–24. https://doi.org/10.3390/jcm10071377
Chanson, P., & Salenave, S. (2008). Acromegaly. Orphanet Journal of Rare Diseases, 3(1), 1–17.
https://doi.org/10.1186/1750-1172-3-17
Chiloiro, S., Giampietro, A., Gagliardi, I., Bondanelli, M., Veleno, M., Ambrosio, M. R., Zatelli, M. C., Pontecorvi, A., Giustina, A., De Marinis, L., & Bianchi, A. (2022). Impact of the diagnostic delay of acromegaly on bone health: data from a real life and long term follow-up experience. Pituitary, 25(6), 831–841. https://doi.org/10.1007/s11102-022-01266-4
Chin, S. O., Ku, C. R., Kim, B. J., Kim, S. W., Park, K. H., Song, K. H., Oh, S., Yoon, H. K., Lee, E. J., Lee, J. M., Lim, J. S., Kim, J. H., Kim, K. J., Jin, H. Y., Kim, D. J., Lee, K. A., Moon, S. S., Lim, D. J., Shin, D. Y., … Kim, C. H. (2019). Medical treatment with somatostatin analogues in acromegaly: Position statement. Endocrinology and Metabolism, 34(1), 53–59.
https://doi.org/10.3803/EnM.2019.34.1.53
Coghlan, R. F., Oberdorf, J. A., Sienko, S., Aiona, M. D., Boston, B. A., Connelly, K. J., Bahney, C., LaRouche, J., Almubarak, S. M., Coleman, D. T., Girkontaite, I., Mark, K. von der, Lunstrum, G. P., & Horton, W. A. (2017). A degradation fragment of type X collagen is a real-time marker for bone growth velocity. Science Translational Medicine, 9(419).
https://doi.org/10.1126/scitranslmed.aan4669
Cordido, F., García Arnés, J. A., Marazuela Aspiroz, M., & Torres Vela, E. (2013). Practical guidelines for diagnosis and treatment of acromegaly. Endocrinología y Nutrición (English Edition), 60(8), 457.e1-457.e15. https://doi.org/10.1016/j.endoen.2013.10.012
Daniel, C. P., Wagner, M. J., Borne, G. E., Plaisance, C. J., Ahmadzadeh, S., Aquino, A., Shekoohi, S., Kaye, A. M., Cornett, E. M., & Kaye, A. D. (2023). Acromegaly: Pathophysiological Considerations and Treatment Options Including the Evolving Role of Oral Somatostatin Analogs. Pathophysiology, 30(3), 377–388. https://doi.org/10.3390/pathophysiology30030029
Elongation, P. B. (2021). HHS Public Access. 18(3), 210–227. https://doi.org/10.1007/s11914-020-00570-x.The
Ershadinia, N., & Tritos, N. A. (2022). Diagnosis and Treatment of Acromegaly: An Update. Mayo Clinic Proceedings, 97(2), 333–346. https://doi.org/10.1016/j.mayocp.2021.11.007
Farrell, W. E., Azevedo, M. F., Batista, D. L., Smith, A., Bourdeau, I., Horvath, A., Boguszewski, M., Quezado, M., & Stratakis, C. A. (2011). Unique gene expression profile associated with an early-onset Multiple Endocrine Neoplasia (MEN1)-associated pituitary adenoma. Journal of Clinical Endocrinology and Metabolism, 96(11), 1905–1914. https://doi.org/10.1210/jc.2011-1127
Fleseriu, M., Langlois, F., Lim, D. S. T., Varlamov, E. V., & Melmed, S. (2022). Acromegaly: pathogenesis, diagnosis, and management. The Lancet Diabetes and Endocrinology, 10(11), 804–826. https://doi.org/10.1016/S2213-8587(22)00244-3
Gadelha, M. R., Gadelha, A. C., & Kasuki, L. (2024). New Treatments for Acromegaly in Development. Journal of Clinical Endocrinology and Metabolism, 109(4), e1323–e1327.
https://doi.org/10.1210/clinem/dgad568
Giustina, A., Biermasz, N., Casanueva, F. F., Fleseriu, M., Mortini, P., Strasburger, C., van der Lely, A. J., Wass, J., Melmed, S., Banfi, G., Barkan, A., Beckers, A., Bidlingmaier, M., Boguszewski, C., Brue, T., Buchfelder, M., Chanson, P., Chiloiro, S., Colao, A., … Zatelli, M. C. (2024). Consensus on criteria for acromegaly diagnosis and remission. Pituitary, 27(1), 7–22.
https://doi.org/10.1007/s11102-023-01360-1
Herder, W. W. (2009). Acromegaly and gigantism in the medical literature. Case descriptions in the era before and the early years after the initial publication of Pierre Marie (1886). Pituitary, 12(3), 236–244. https://doi.org/10.1007/s11102-008-0138-y
Hossain, B., & Drake, W. M. (2013). Acromegaly. Medicine (United Kingdom), 41(9), 512–515.
https://doi.org/10.1016/j.mpmed.2013.06.013
Katznelson, L., Laws, E. R., Melmed, S., Molitch, M. E., Murad, M. H., Utz, A., & Wass, J. A. H. (2014). Acromegaly: An endocrine society clinical practice guideline. Journal of Clinical Endocrinology and Metabolism, 99(11), 3933–3951. https://doi.org/10.1210/jc.2014-2700
Khandelwal, D., Khadgawat, R., Mukund, A., & Suri, A. (2011). Acromegaly with no pituitary adenoma and no evidence of ectopic source. Indian Journal of Endocrinology and Metabolism, 15(7), 250. https://doi.org/10.4103/2230-8210.84878
Lytras, A., & Tolis, G. (2006). Growth Hormone-Secreting Tumors: Genetic Aspects and Data from Animal Models. Neuroendocrinology, 83, 166–178. https://doi.org/10.1159/000095525
Marques, P., Sapinho, I., & Korbonits, M. (2024). Pseudoacromegaly—A challenging entity in the endocrine clinic: A systematic review. Clinical Endocrinology, 100(6), 542–557.
https://doi.org/10.1111/cen.15053
Ogedegbe, O. J., Cheema, A. Y., Khan, M. A., Junaid, S. Z. S., Erebo, J. K., Ayirebi-Acquah, E., Okpara, J., Bofah, D., Okon, J. G., Munir, M., Alugba, G., Ezekiel, A., Okun, O., Ojo, T. K., Mejulu, E. O., & Jimoh, A. (2022). A Comprehensive Review of Four Clinical Practice Guidelines of Acromegaly. Cureus, 14(9). https://doi.org/10.7759/cureus.28722
Peng, S., Liu, Q., Teng, Y., Huang, B., Liu, Z., Li, M., Liang, J., Zhang, Y., & Wang, M. (2023). A worldwide bibliometric analysis of acromegaly in the past two decades: 1999–2022. Frontiers in Neuroscience, 17(July), 1–11. https://doi.org/10.3389/fnins.2023.1187820
Rhee, N., Jeong, K., Yang, E. M., & Kim, C. J. (2014). Gigantism caused by growth hormone secreting pituitary adenoma. Annals of Pediatric Endocrinology & Metabolism, 19(2), 96.
https://doi.org/10.6065/apem.2014.19.2.96
Rostomyan, L., & Beckers, A. (2016). Screening for genetic causes of growth hormone hypersecretion. Growth Hormone and IGF Research, 30–31, 52–57. https://doi.org/10.1016/j.ghir.2016.10.004
Rostomyan, L., Daly, A. F., Petrossians, P., Nachev, E., Lila, A. R., Lecoq, A. L., Lecumberri, B., Trivellin, G., Salvatori, R., Moraitis, A. G., Holdaway, I., Kranenburg-Van Klaveren, D. J., Zatelli, M. C., Palacios, N., Nozieres, C., Zacharin, M., Ebeling, T., Ojaniemi, M., Rozhinskaya, L., … Beckers, A. (2015). Clinical and genetic characterization of pituitary gigantism: An international collaborative study in 208 patients. Endocrine-Related Cancer, 22(5), 745–757.
https://doi.org/10.1530/ERC-15-0320
Zhang, S., Wan, F., Guo, D., & Lei, T. (2012). Targeting Raf/MEK/ERK pathway in pituitary adenomas. European Journal of Cancer, 48(3), 389–395. https://doi.org/10.1016/j.ejca.2011.11.002
Zhu, Y., Chen, J., Zhang, Y., Wang, X., & Wang, J. (2024). Immunosuppressive agents for frequently relapsing/steroid-dependent nephrotic syndrome in children: a systematic review and network meta-analysis. Frontiers in Immunology, 15(February).
https://doi.org/10.3389/fimmu.2024.1310032
Publicado
2025-11-02
Cómo citar
Jaramillo Araujo , W. E., Rodríguez Balseca, V. A., Quintero molano, K. S., Miranda Artuz, M. P., & Carmona Martínez, L. P. (2025). Crecer más allá de los Esperado: Acromegalia en Pacientes Pediátricos. Ciencia Latina Revista Científica Multidisciplinar, 9(5), 9711-9722. https://doi.org/10.37811/cl_rcm.v9i5.20291
Número
Sección
Ciencias de la Salud
Derechos de autor 2025 Walter Enrique Jaramillo Araujo , Víctor Andrés Rodríguez Balseca, Karol Silvana Quintero molano, María Paula Miranda Artuz, Liliana Patricia Carmona Martínez
Esta obra está bajo licencia internacional Creative Commons Reconocimiento 4.0.
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