{"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":"2026-09-02T06:00:00","modified_gmt":"2026-09-02T10:00:00","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 provoca una pubertad ausente o retrasada e infertilidad, y anosmia o hiposmia (ausencia o reducci\u00f3n del sentido del olfato).<sup>1<\/sup> Esta afecci\u00f3n surge de un fallo en el desarrollo durante la migraci\u00f3n embrionaria de las neuronas secretoras de hormona liberadora de gonadotropina (GnRH) desde la placoda olfatoria hasta el hipot\u00e1lamo.<sup>9, 10<\/sup> En condiciones normales, estas neuronas, junto con los nervios olfatorios, atraviesan la l\u00e1mina cribosa para llegar al hipot\u00e1lamo, donde regulan la funci\u00f3n reproductiva.<sup>9, 10<\/sup> Las alteraciones en esta v\u00eda migratoria afectan tanto a la funci\u00f3n olfatoria como a la secreci\u00f3n de GnRH, lo que da lugar a los rasgos caracter\u00edsticos del SK.<sup>9, 10<\/sup> Si la deficiencia de GnRH se produce sin defectos olfatorios, la afecci\u00f3n se denomina hipogonadismo hipogonadotr\u00f3pico idiop\u00e1tico norm\u00f3smico (HHIn).<sup>7, 11<\/sup><\/p>\n<p>La base gen\u00e9tica del s\u00edndrome de Kallmann es heterog\u00e9nea, con mutaciones en m\u00e1s de 40 genes implicadas 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> (anteriormente <em>KAL1<\/em>) y <em>FGFR1<\/em>. Sin embargo, una proporci\u00f3n significativa de los casos (35-45 %) permanece sin una causa gen\u00e9tica identificable en la actualidad.<sup>6, 13, 14, 15<\/sup> Otros genes asociados con el SK incluyen <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 recesivos ligados al cromosoma X (p. ej., mutaciones en <em>ANOS1<\/em>), autos\u00f3micos dominantes o autos\u00f3micos recesivos, aunque muchos casos se deben a mutaciones espor\u00e1dicas.<sup>6<\/sup><\/p>\n","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] (Reference for MRI\/diagnosis from StatPearls NBK538210)\n\n[6] (General clinical features\/genetics reference from StatPearls 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] (Reference for ANOS1\/FGFR1 from StatPearls NBK538210)\n\n[14] (Reference for ANOS1\/FGFR1 from StatPearls NBK538210)\n\n[15] (Reference for ANOS1\/FGFR1 and associated features from StatPearls NBK538210)\n\n[16] (Reference for other genes from StatPearls NBK538210)\n\n[17] (Reference for other genes from StatPearls NBK538210)\n\n[20] (Reference for associated features from StatPearls NBK538210)\n\n[21] (Reference for associated features from StatPearls NBK538210)\n\n[22] (Reference for associated features from StatPearls NBK538210)\n\n[48] (Reference for lab findings\/MRI from StatPearls NBK538210)\n\n[50] (Reference for MRI diagnosis from StatPearls 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\nNature s41431-022-01261-0 (Panel testing for the molecular genetic diagnosis...)\n\nNature nature24265 (Landscape of X chromosome inactivation...)\n\nNature s41598-020-68251-4 (RPmirDIP: Reciprocal Perspective improves miRNA targeting...)","gt-clinical-context":"<p>El s\u00edndrome de Kallmann se sospecha habitualmente en adolescentes que presentan pubertad retrasada o ausente, a menudo acompa\u00f1ada de una falta percibida de olfato (anosmia o hiposmia).<sup>6<\/sup> La evaluaci\u00f3n cl\u00ednica puede revelar otros rasgos asociados como criptorquidia (test\u00edculos no descendidos), micropene en varones, labio leporino o paladar hendido, 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 implica evaluaciones hormonales, pruebas de imagen y, potencialmente, an\u00e1lisis gen\u00e9ticos. Los hallazgos de laboratorio muestran de forma caracter\u00edstica niveles bajos de hormona luteinizante (LH), hormona foliculoestimulante (FSH) y esteroides sexuales (testosterona en varones, estradiol en mujeres), a pesar de niveles normales o bajos de GnRH (debido a la disfunci\u00f3n hipotal\u00e1mica).<sup>6, 48<\/sup> La funci\u00f3n hipofisaria m\u00e1s all\u00e1 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 de reemplazo hormonal (TRH) 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, la terapia puls\u00e1til con GnRH o los tratamientos con gonadotropinas (hCG y hMG\/FSH) pueden ser eficaces.<sup>6<\/sup> (Fuente: PMC9477064, Introducci\u00f3n) Puede ser necesaria la correcci\u00f3n quir\u00fargica de la criptorquidia. Debido al riesgo de osteoporosis derivado del hipogonadismo prolongado, a menudo se recomienda la monitorizaci\u00f3n de la densidad \u00f3sea y la suplementaci\u00f3n con vitamina D y calcio. (Fuente: StatPearls NBK538210, Introducci\u00f3n)<\/p>\n","gt-related-evidence":null,"gt-featured":false,"gt-ai-referenced":true,"gt-view-count":6},"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v28.4 (Yoast SEO v28.4) - 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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