{"id":32503,"date":"2026-09-01T18:00:00","date_gmt":"2026-09-01T22:00:00","guid":{"rendered":"https:\/\/www.rigicon.com\/?post_type=glossary-term&p=32503"},"modified":"2026-10-06T18:19:32","modified_gmt":"2026-10-06T22:19:32","slug":"sindrome-de-kallmann","status":"publish","type":"glossary-term","link":"https:\/\/www.rigicon.com\/es\/glossary-term\/sindrome-de-kallmann\/","title":{"rendered":"S\u00edndrome de Kallmann"},"content":{"rendered":"","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","glossary-category":[139],"glossary-product":[],"class_list":["post-32503","glossary-term","type-glossary-term","status-publish","hentry","glossary-category-congenital-urological-anomalies"],"acf":{"gt-definition":"<p>El s\u00edndrome de Kallmann (SK) es un trastorno gen\u00e9tico cong\u00e9nito caracterizado por la presentaci\u00f3n conjunta de hipogonadismo hipogonadotr\u00f3pico (HH), que conduce a una pubertad ausente o retrasada y a infertilidad, y de anosmia o hiposmia (ausencia o disminuci\u00f3n del sentido del olfato).<sup>1<\/sup> Esta afecci\u00f3n se debe a un fallo del desarrollo en la migraci\u00f3n embrionaria de las neuronas de hormona liberadora de gonadotropinas (GnRH) desde la placoda olfatoria hasta el hipot\u00e1lamo.<sup>9, 10<\/sup> Normalmente, estas neuronas, junto con los nervios olfatorios, atraviesan la l\u00e1mina cribosa para llegar al hipot\u00e1lamo, donde regulan la funci\u00f3n reproductora.<sup>9, 10<\/sup> Los defectos en esta v\u00eda migratoria alteran tanto la funci\u00f3n olfatoria como la secreci\u00f3n de GnRH, lo que da lugar a los rasgos caracter\u00edsticos del SK.<sup>9, 10<\/sup> Si el d\u00e9ficit de GnRH se produce sin defectos olfatorios, la afecci\u00f3n se denomina hipogonadismo hipogonadotr\u00f3pico idiop\u00e1tico norm\u00f3smico (nIHH).<sup>7, 11<\/sup><\/p>\n<p>La base gen\u00e9tica del s\u00edndrome de Kallmann es heterog\u00e9nea: se han implicado mutaciones en m\u00e1s de 40 genes en su etiolog\u00eda, lo que a menudo da lugar a caracter\u00edsticas secundarias variadas.<sup>12<\/sup> Las mutaciones gen\u00e9ticas identificadas con mayor frecuencia afectan a <em>ANOS1<\/em> (antes <em>KAL1<\/em>) y <em>FGFR1<\/em>. Sin embargo, una proporci\u00f3n significativa de los casos (35-45%) sigue sin una causa gen\u00e9tica identificable en la actualidad.<sup>6, 13, 14, 15<\/sup> Otros genes asociados al SK son <em>PROK2<\/em>, <em>PROKR2<\/em>, <em>CHD7<\/em>, <em>FGF8<\/em> y <em>SOX10<\/em>, entre otros.<sup>6, 16, 17<\/sup> Los patrones de herencia pueden ser recesivo ligado al cromosoma X (p. ej., mutaciones de <em>ANOS1<\/em>), autos\u00f3mico dominante o autos\u00f3mico recesivo, aunque muchos casos se deben a mutaciones espor\u00e1dicas.<sup>6<\/sup><\/p>","gt-synonyms":"SK, Hipogonadismo hipogonadotr\u00f3pico con anosmia, Displasia olfatogenital, Displasia olfativogonadal, S\u00edndrome de de Morsier","gt-citation":"[1] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. [Updated 2024 Dec 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[5] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[6] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[7] (Reference for nIHH from StatPearls NBK538210)\n\n[9] (Reference for GnRH migration from StatPearls NBK538210)\n\n[10] (Reference for GnRH migration from StatPearls NBK538210)\n\n[11] (Reference for nIHH from StatPearls NBK538210)\n\n[12] (Reference for genetic heterogeneity from StatPearls NBK538210)\n\n[13] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[14] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[15] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[16] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[17] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[20] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[21] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[22] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[48] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\n[50] Sonne J, Leslie SW, Lopez-Ojeda W. Kallmann Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. PMID: 30855798. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538210\/\n\nZhang P, Fu JY. X-linked recessive Kallmann syndrome: A case report. World J Clin Cases. 2022 Sep 6;10(25):8990-8997. doi: 10.12998\/wjcc.v10.i25.8990.\n\nPubMed ID: 35899427 (Convergent biological pathways underlying the Kallmann syndrome...)\n\nAl Sayed Y, Howard SR. Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective. Eur J Hum Genet. 2023;31(4):387-394. doi: 10.1038\/s41431-022-01261-0. PMID: 36517585.\n\nTukiainen T, Villani AC, Yen A, et al. Landscape of X chromosome inactivation across human tissues. Nature. 2017;550(7675):244-248. doi: 10.1038\/nature24265. PMID: 29022598.\n\nNature s41598-020-68251-4 (RPmirDIP: Reciprocal Perspective improves miRNA targeting...)","gt-clinical-context":"<p>El s\u00edndrome de Kallmann suele sospecharse en adolescentes que presentan pubertad retrasada o ausente, a menudo acompa\u00f1ada de una falta de olfato referida por el paciente (anosmia o hiposmia).<sup>6<\/sup> La evaluaci\u00f3n cl\u00ednica puede revelar otros rasgos asociados, como criptorquidia (test\u00edculos no descendidos), micropene en los varones, labio leporino o fisura palatina, agenesia renal unilateral y sincinesia (movimientos en espejo de las manos).<sup>6, 15, 20, 21, 22<\/sup> Los antecedentes familiares de pubertad retrasada o de SK diagnosticado tambi\u00e9n pueden ser indicativos.<sup>6<\/sup><\/p>\n<p>La confirmaci\u00f3n diagn\u00f3stica se basa en evaluaciones hormonales, pruebas de imagen y, posiblemente, pruebas gen\u00e9ticas. Los resultados de laboratorio muestran de forma caracter\u00edstica niveles bajos de hormona luteinizante (LH), hormona foliculoestimulante (FSH) y esteroides sexuales (testosterona en los varones, estradiol en las mujeres), lo que refleja una secreci\u00f3n hipotal\u00e1mica deficiente de GnRH.<sup>6, 48<\/sup> La funci\u00f3n hipofisaria, aparte de la secreci\u00f3n de gonadotropinas, suele ser normal.<sup>5<\/sup> La RM cerebral puede revelar aplasia o hipoplasia del bulbo olfatorio, un indicador clave del SK.<sup>5, 6, 48, 50<\/sup><\/p>\n<p>El tratamiento del s\u00edndrome de Kallmann se centra en la terapia hormonal sustitutiva (THS) para inducir y mantener los caracteres sexuales secundarios, favorecer la salud \u00f3sea y mejorar la calidad de vida. Para la inducci\u00f3n de la fertilidad, pueden ser eficaces la terapia con GnRH puls\u00e1til o los tratamientos con gonadotropinas (hCG y hMG\/FSH).<sup>6<\/sup> Puede ser necesaria la correcci\u00f3n quir\u00fargica de la criptorquidia. Debido al riesgo de osteoporosis por hipogonadismo prolongado, a menudo se recomiendan la monitorizaci\u00f3n de la densidad \u00f3sea y la suplementaci\u00f3n con vitamina D\/calcio.<\/p>","gt-related-evidence":null,"gt-featured":false,"gt-ai-referenced":true,"gt-view-count":28},"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v28.7 (Yoast SEO v28.7) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>S\u00edndrome de Kallmann: causas, s\u00edntomas y tratamiento<\/title>\n<meta name=\"description\" content=\"Conozca el s\u00edndrome de Kallmann, un trastorno gen\u00e9tico raro que causa retraso puberal y p\u00e9rdida del olfato. 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