A síndrome da insensibilidade androgênica na forma completa, também conhecida por Síndrome de Morris, é uma das possíveis causas de amenorreia primária. É causada por um gene recessivo ligado ao cromossomo X. Trata-se de uma insensibilidade dos receptores intracelulares à ação dos androgênios em indivíduos de cariótipo 46,XY.
Os embriões formam os testículos que iniciam a produção de testosterona na vida intrauterina. Como existe insensibilidade dos receptores, não ocorre o desenvolvimento dos ductos de Wolff (também chamados mesonéfricos). O desenvolvimento dos ductos de Müller (também chamados paramesonéfricos) é bloqueado pelo hormônio antimülleriano produzido pelos testículos. Portanto, ocorre apenas a formação da genitália externa (vulva e terço inferior da vagina) sem o desenvolvimento da genitália interna. A vagina será curta (vaginometria geralmente < 4 cm) e em fundo cego, ou seja, com colo uterino ausente.
As pacientes costumam procurar assistência médica por amenorréia primária, que se justifica pela ausência de útero. Além disso, pode haver queixa de dificuldade na relação sexual com penetração em função do comprimento vaginal reduzido. Ao exame físico, identifica-se uma paciente com desenvolvimento mamário habitual, mas sem pelos pubianos. Em alguns casos os pelos pubianos podem ser ralos e escassos, uma vez que pode ocorrer uma mínima resposta dos receptores androgênicos. Os exames complementares a ser solicitados são a ultrassonografia pélvica e o cariótipo. A imagem irá evidenciar a ausência de útero e o cariótipo será compatível com 46,XY. O cariótipo é imprescindível para o diagnóstico definitivo, pois irá definir a necessidade de gonadectomia.
O tratamento consiste na abordagem multidisciplinar com acolhimento, apoio técnico e suporte de profissionais de saúde mental. O tratamento cirúrgico consiste na realização de gonadectomia pelo risco de malignização (gonadoblastoma). Após a gonadectomia deve-se iniciar a estrogenioterapia. A neovaginoplastia poderá ser indicada conforme desejo da paciente.
Referência
TAYLOR, Hugh S.; PAL, Lubna; SELL, Emre. Speroff’s clinical gynecologic endocrinology and infertility. 9 ed. Filadélfia: Lippincott Williams & Wilkins, 2019.
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