{"id":29669,"date":"2024-09-10T13:05:27","date_gmt":"2024-09-10T16:05:27","guid":{"rendered":"https:\/\/www.grupomedcof.com.br\/blog\/?p=29669"},"modified":"2026-04-24T15:11:27","modified_gmt":"2026-04-24T18:11:27","slug":"diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter","status":"publish","type":"post","link":"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/","title":{"rendered":"Diferen\u00e7as no Desenvolvimento Sexual: S\u00edndromes de Turner e de Klinefelter"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_74 counter-hierarchy ez-toc-counter ez-toc-transparent ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Sum\u00e1rio<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Alternar tabela de conte\u00fado\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Definicao\" >Defini\u00e7\u00e3o\u00a0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Diferenciacao_Gonadal\" >Diferencia\u00e7\u00e3o Gonadal<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Classificacao\" >Classifica\u00e7\u00e3o<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Vamos_falar_de_variacoes\" >Vamos falar de varia\u00e7\u00f5es?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#DDS_associada_ao_cromossomo_sexual\" >DDS associada ao cromossomo sexual<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Disturbio_por_excesso_de_androgenios\" >Dist\u00farbio por excesso de androg\u00eanios<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#DDS_46_XY\" >DDS 46 XY<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Disturbios_do_desenvolvimento_testicular\" >Dist\u00farbios do desenvolvimento testicular<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#Disturbios_da_acao_dos_androgenios\" >Dist\u00farbios da a\u00e7\u00e3o dos androg\u00eanios<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#DDS_Ovotesticular\" >DDS Ovotesticular<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.grupomedcof.com.br\/blog\/diferencas-no-desenvolvimento-sexual-sindromes-de-turner-e-de-klinefelter\/#O_metodo_que_te_aprova\" >O m\u00e9todo que te aprova<\/a><\/li><\/ul><\/nav><\/div>\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-1024x576.png\" alt=\"\" class=\"wp-image-29673\" srcset=\"https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-1024x576.png 1024w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-300x169.png 300w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-768x432.png 768w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-1536x864.png 1536w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-2048x1152.png 2048w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-747x420.png 747w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-150x84.png 150w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-696x392.png 696w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-1068x601.png 1068w, https:\/\/www.grupomedcof.com.br\/blog\/wp-content\/uploads\/2024\/09\/Blog-MedCof-2024-09-10T130145.551-1920x1080.png 1920w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-definicao\"><span class=\"ez-toc-section\" id=\"Definicao\"><\/span><strong>Defini\u00e7\u00e3o\u00a0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>As diferen\u00e7as no desenvolvimento sexual formam um grupo heterog\u00eaneo que engloba condi\u00e7\u00f5es que resultam na discord\u00e2ncia entre os sexos cromoss\u00f4mico, gonadal e anat\u00f4mico.\u00a0<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-diferenciacao-gonadal\"><span class=\"ez-toc-section\" id=\"Diferenciacao_Gonadal\"><\/span><strong>Diferencia\u00e7\u00e3o Gonadal<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Podemos citar nessa fase que, antes da 7 semana do desenvolimento, as g\u00f4nadas ainda s\u00e3o indiferenciadas ou bipotentes (podendo dar origem a ambos os sexos) e o sexo \u00e9 determinado pelo cari\u00f3tipo. Se o par 23 for representado por XX, a a\u00e7\u00e3o da DHT (dihidrotestosterona) \u00e9 inibida e, assim, o tub\u00e9rculo genital forma o clit\u00f3ris, as pregas urogenitais formam os pequenos l\u00e1bios, as pregas labioescrotais formam os grandes l\u00e1bios e o seio urogenital forma a vagina distal.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-classificacao\"><span class=\"ez-toc-section\" id=\"Classificacao\"><\/span><strong>Classifica\u00e7\u00e3o<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>A classifica\u00e7\u00e3o mais recente baseia-se no cari\u00f3tipo e vamos representar a nomenclatura mais atualizada:<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td>DDS associada ao cromossomo sexual<\/td><td>DDS 46 XX<\/td><td>DDS 46 XY<\/td><\/tr><tr><td>S\u00edndrome de Turner (46 X)<\/td><td>Dist\u00farbio de desenvolvimento ovariano<\/td><td>Dist\u00farbios desenvolvimento testicular<\/td><\/tr><tr><td>S\u00edndrome de Klinefelter (47 XXY)&nbsp;<\/td><td>Dist\u00farbio por excesso androg\u00eanios<\/td><td>Dist\u00farbios da s\u00edntese ou a\u00e7\u00e3o dos androg\u00eanios<\/td><\/tr><tr><td>Disgenesia gonadal (46 X e 46 XY)&nbsp;<\/td><td>outros<\/td><td><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-vamos-falar-de-variacoes\"><span class=\"ez-toc-section\" id=\"Vamos_falar_de_variacoes\"><\/span><strong>Vamos falar de varia\u00e7\u00f5es?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-dds-associada-ao-cromossomo-sexual\"><span class=\"ez-toc-section\" id=\"DDS_associada_ao_cromossomo_sexual\"><\/span><strong>DDS associada ao cromossomo sexual<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h4 class=\"wp-block-heading\" id=\"h-sindrome-de-turner-45-x\"><strong>S\u00edndrome de Turner (45 X)<\/strong><\/h4>\n\n\n\n<p>Quando falamos dessa varia\u00e7\u00e3o nos referimos a disgenesia gonadal mais comum. Nela n\u00e3o h\u00e1 produ\u00e7\u00e3o dos horm\u00f4nios esteroides ovarianos, por isso n\u00e3o h\u00e1 produ\u00e7\u00e3o de caracteres sexuais secund\u00e1rios (genit\u00e1lia externa e interna femininas pr\u00e9-p\u00faberes). O tratamento \u00e9 a reposi\u00e7\u00e3o hormonal, para proteger a sa\u00fade \u00f3ssea e reduzir o risco cardiovascular associado).<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><strong>Curiosidade: <\/strong>Infelizmente, \u00e9 comum a presen\u00e7a de estigmas associados \u00e0 s\u00edndrome. Al\u00e9m disso, devemos sempre analisar bem o uso de GH ex\u00f3geno no tratamento durante a puberdade (aumento da estatura final).\u00a0<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-sindrome-de-klinefelter\"><strong>S\u00edndrome de Klinefelter<\/strong><\/h4>\n\n\n\n<p>Caracteriza-se essa condi\u00e7\u00e3o por defici\u00eancias de fala e de outras habilidades lingu\u00edsticas; hipogonadismo hipergonadotr\u00f3fico; homens inf\u00e9rteis; azoospermia; alta estatura com bra\u00e7os e pernas longos e ginecomastia. O diagn\u00f3stico ocorre pela an\u00e1lise do cari\u00f3tipo (47 XXY) e, geralmente, acontece tardiamente (em avalia\u00e7\u00e3o de infertilidade por exemplo).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-disturbio-por-excesso-de-androgenios\"><span class=\"ez-toc-section\" id=\"Disturbio_por_excesso_de_androgenios\"><\/span><strong>Dist\u00farbio por excesso de androg\u00eanios<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Nesse caso, ocorre por hiperplasia adrenal cong\u00eanita ou por defici\u00eancias de aromatase e tumores virilizantes maternos. A paciente apresenta um cari\u00f3tipo 46 XX e genit\u00e1lia externa masculinizada (as partes femininas est\u00e3o presentes e s\u00e3o f\u00e9rteis, por\u00e9m a genit\u00e1lia externa \u00e9 masculinizada). As causas dessa condi\u00e7\u00e3o podem envolver erros na esteroidog\u00eanese e a exposi\u00e7\u00e3o materna e fetal a composi\u00e7\u00f5es perigosas (como noretindrona e tumores virilizantes)<\/p>\n\n\n\n<p><strong>Curiosidade:<\/strong> a masculiniza\u00e7\u00e3o ocorre em diferentes n\u00edveis, avaliados pela Escala de Prader do est\u00e1gio 0 ao V.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-dds-46-xy\"><span class=\"ez-toc-section\" id=\"DDS_46_XY\"><\/span><strong>DDS 46 XY<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-disturbios-do-desenvolvimento-testicular\"><span class=\"ez-toc-section\" id=\"Disturbios_do_desenvolvimento_testicular\"><\/span><strong>Dist\u00farbios do desenvolvimento testicular<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Aqui, podemos citar a s\u00edndrome de Swyer, que \u00e9 a causa\u00a0 de disgenesia gonadal pura com cari\u00f3tipo 46 XY. Nesse caso, os test\u00edculos s\u00e3o disgen\u00e9ticos (n\u00e3o produzem horm\u00f4nio anti-mulleriano nem testosterona). Devido a isso, ocorre desenvolvimento de \u00fatero, tubas e parte da vagina, al\u00e9m da genit\u00e1lia externa ser feminina.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-disturbios-da-acao-dos-androgenios\"><span class=\"ez-toc-section\" id=\"Disturbios_da_acao_dos_androgenios\"><\/span><strong>Dist\u00farbios da a\u00e7\u00e3o dos androg\u00eanios<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Tamb\u00e9m chamada de s\u00edndrome da insensibilidade aos androg\u00e9nios, ocorre devido ao cari\u00f3tipo 46 XY. Essa \u00e9 uma doen\u00e7a recessiva ligada ao cromossomo X. As g\u00f4nadas s\u00e3o test\u00edculos (que produzem testosterona e horm\u00f4nio anti-mulleriano), isso causa caracteres masculinos com genit\u00e1lia externa feminina.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-dds-ovotesticular\"><span class=\"ez-toc-section\" id=\"DDS_Ovotesticular\"><\/span><strong>DDS Ovotesticular<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Nessa situa\u00e7\u00e3o, pode ocorrer por:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>DDS associada ao cromossomo sexual;\u00a0<\/li>\n\n\n\n<li>DDS 46 XX associada ao dist\u00farbio do desenvolvimento ovariano;\u00a0<\/li>\n\n\n\n<li>DDS 46 XY associada ao dist\u00farbio do desenvolvimento testicular.<\/li>\n<\/ul>\n\n\n\n<p>Ela se d\u00e1 na presen\u00e7a de ov\u00e1rios e de test\u00edculos. O cari\u00f3tipo dessa condi\u00e7\u00e3o pode ser 46 XX (mais encontrado) e mosaicismo 46 XX e 46 XY. Nela podemos reconhecer ovotestis unilateral,com ov\u00e1rio ou test\u00edculo contralateral, ou ovotestis bilateral. O grau de\u00a0 deformidade depende da quantidade de AMH e testosterona presente.\u00a0<\/p>\n\n\n\n<p><strong>Curiosidade:<\/strong> a genit\u00e1lia externa \u00e9 amb\u00edgua e sub masculinizada.\u00a0<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"o-m\u00e9todo-que-te-aprova\"><span class=\"ez-toc-section\" id=\"O_metodo_que_te_aprova\"><\/span><strong>O m\u00e9todo que te aprova<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Quer alcan\u00e7ar a aprova\u00e7\u00e3o nas provas de resid\u00eancia m\u00e9dica? Ent\u00e3o seja um&nbsp;<a href=\"https:\/\/www.grupomedcof.com.br\/home\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>MedCoffer<\/strong><\/a>! Aqui te ajudaremos na busca da aprova\u00e7\u00e3o com conte\u00fados de qualidade e uma&nbsp;<a href=\"https:\/\/www.grupomedcof.com.br\/blog\/presenca-da-medcof-nas-aprovacoes-em-residencia-medica-no-brasil\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>metodologia que j\u00e1 aprovou mais de 10 mil residentes no pa\u00eds<\/strong><\/a>!&nbsp;Por fim, acesse o nosso<a href=\"https:\/\/www.youtube.com\/@GrupoMedcof\/featured\" target=\"_blank\" rel=\"noreferrer noopener\">&nbsp;<strong>canal do youtube&nbsp;<\/strong><\/a>para ver o nosso material.<\/p>\n\n\n\n<figure class=\"wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<div class=\"youtube-embed\" data-video_id=\"NM1puxrwdik\"><iframe loading=\"lazy\" title=\"Malforma\u00e7\u00f5es Mullerianas: Como afetam a fertilidade feminina? Com Dra. Nicole Kemberly\" width=\"696\" height=\"392\" src=\"https:\/\/www.youtube.com\/embed\/NM1puxrwdik?start=1&#038;feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<\/div><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>Saiba mais sobre as classifica\u00e7\u00f5es e defini\u00e7\u00f5es da S\u00edndrome de Turner e S\u00edndrome de Klinefelter para ficar por 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