{"id":32516,"date":"2026-09-01T18:00:00","date_gmt":"2026-09-01T22:00:00","guid":{"rendered":"https:\/\/www.rigicon.com\/?post_type=glossary-term&p=32516"},"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\/pt-br\/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-32516","glossary-term","type-glossary-term","status-publish","hentry","glossary-category-congenital-urological-anomalies"],"acf":{"gt-definition":"<p>A s\u00edndrome de Kallmann (SK) \u00e9 um dist\u00farbio gen\u00e9tico cong\u00eanito caracterizado pela apresenta\u00e7\u00e3o dual de hipogonadismo hipogonadotr\u00f3fico (HH), levando \u00e0 aus\u00eancia ou atraso da puberdade e infertilidade, e anosmia ou hiposmia (aus\u00eancia ou redu\u00e7\u00e3o do olfato).<sup>1<\/sup> Essa condi\u00e7\u00e3o decorre de uma falha de desenvolvimento na migra\u00e7\u00e3o embrion\u00e1ria dos neur\u00f4nios secretores do horm\u00f4nio liberador de gonadotrofina (GnRH) do placoide olfat\u00f3rio para o hipot\u00e1lamo.<sup>9, 10<\/sup> Normalmente, esses neur\u00f4nios, juntamente com os nervos olfat\u00f3rios, atravessam a l\u00e2mina cribriforme para alcan\u00e7ar o hipot\u00e1lamo, onde regulam a fun\u00e7\u00e3o reprodutiva.<sup>9, 10<\/sup> Defeitos nessa via migrat\u00f3ria comprometem tanto a fun\u00e7\u00e3o olfat\u00f3ria quanto a secre\u00e7\u00e3o de GnRH, resultando nas caracter\u00edsticas t\u00edpicas da SK.<sup>9, 10<\/sup> Se a defici\u00eancia de GnRH ocorrer sem defeitos olfat\u00f3rios, a condi\u00e7\u00e3o \u00e9 denominada hipogonadismo hipogonadotr\u00f3fico idiop\u00e1tico norm\u00f3smico (nIHH).<sup>7, 11<\/sup><\/p>\n<p>A base gen\u00e9tica da s\u00edndrome de Kallmann \u00e9 heterog\u00eanea, com muta\u00e7\u00f5es em mais de 40 genes implicados em sua etiologia, frequentemente levando a caracter\u00edsticas secund\u00e1rias variadas.<sup>12<\/sup> As muta\u00e7\u00f5es gen\u00e9ticas mais frequentemente identificadas envolvem o <em>ANOS1<\/em> (anteriormente <em>KAL1<\/em>) e o <em>FGFR1<\/em>. No entanto, uma parcela significativa dos casos (35-45%) permanece sem uma causa gen\u00e9tica identific\u00e1vel no momento.<sup>6, 13, 14, 15<\/sup> Outros genes associados \u00e0 SK incluem <em>PROK2<\/em>, <em>PROKR2<\/em>, <em>CHD7<\/em>, <em>FGF8<\/em> e <em>SOX10<\/em>, entre outros.<sup>6, 16, 17<\/sup> Os padr\u00f5es de heran\u00e7a podem ser recessivos ligados ao X (por exemplo, muta\u00e7\u00f5es em <em>ANOS1<\/em>), autoss\u00f4micos dominantes ou autoss\u00f4micos recessivos, embora muitos casos decorram de muta\u00e7\u00f5es espor\u00e1dicas.<sup>6<\/sup><\/p>\n","gt-synonyms":"SK, Hipogonadismo hipogonadotr\u00f3fico com anosmia, Displasia olfatogenital, Displasia olfativo-gonadal, 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>A s\u00edndrome de Kallmann \u00e9 tipicamente suspeitada em adolescentes que apresentam atraso ou aus\u00eancia de puberdade, frequentemente acompanhada de relato de falta de olfato (anosmia ou hiposmia).<sup>6<\/sup> A avalia\u00e7\u00e3o cl\u00ednica pode revelar outras caracter\u00edsticas associadas, como criptorquidia (test\u00edculos n\u00e3o descidos), microp\u00eanis em homens, fenda labial ou palatina, agenesia renal unilateral e sincinesia (movimentos em espelho das m\u00e3os).<sup>6, 15, 20, 21, 22<\/sup> Um hist\u00f3rico familiar de atraso puberal ou diagn\u00f3stico de SK tamb\u00e9m pode ser indicativo.<sup>6<\/sup><\/p>\n<p>A confirma\u00e7\u00e3o diagn\u00f3stica envolve avalia\u00e7\u00f5es hormonais, exames de imagem e, potencialmente, testes gen\u00e9ticos. Os achados laboratoriais mostram caracteristicamente n\u00edveis baixos de horm\u00f4nio luteinizante (LH), horm\u00f4nio fol\u00edculo-estimulante (FSH) e esteroides sexuais (testosterona em homens, estradiol em mulheres), apesar do GnRH normal ou baixo (devido \u00e0 disfun\u00e7\u00e3o hipotal\u00e2mica).<sup>6, 48<\/sup> A fun\u00e7\u00e3o hipofis\u00e1ria al\u00e9m da secre\u00e7\u00e3o de gonadotrofinas geralmente \u00e9 normal.<sup>5<\/sup> A resson\u00e2ncia magn\u00e9tica (RM) do enc\u00e9falo pode revelar aplasia ou hipoplasia do bulbo olfat\u00f3rio, um indicador fundamental de SK.<sup>5, 6, 48, 50<\/sup><\/p>\n<p>O manejo da s\u00edndrome de Kallmann concentra-se na terapia de reposi\u00e7\u00e3o hormonal (TRH) para induzir e manter os caracteres sexuais secund\u00e1rios, promover a sa\u00fade \u00f3ssea e melhorar a qualidade de vida. Para a indu\u00e7\u00e3o da fertilidade, a terapia com GnRH puls\u00e1til ou tratamentos com gonadotrofinas (hCG e hMG\/FSH) podem ser eficazes.<sup>6<\/sup> (Fonte: PMC9477064, Introdu\u00e7\u00e3o) A corre\u00e7\u00e3o cir\u00fargica para criptorquidia pode ser necess\u00e1ria. Devido ao risco de osteoporose decorrente do hipogonadismo prolongado, o monitoramento da densidade mineral \u00f3ssea e a suplementa\u00e7\u00e3o de vitamina D\/c\u00e1lcio s\u00e3o frequentemente recomendados. (Fonte: StatPearls NBK538210, Introdu\u00e7\u00e3o)<\/p>\n","gt-related-evidence":null,"gt-featured":false,"gt-ai-referenced":true,"gt-view-count":8},"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, Sintomas e Tratamento<\/title>\n<meta name=\"description\" content=\"Conhe\u00e7a a s\u00edndrome de Kallmann, uma condi\u00e7\u00e3o gen\u00e9tica rara que causa puberdade tardia e perda do olfato. 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