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The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development

46,XX testicular disorder of sex development is a rare syndrome characterized by an inconsistency between genotype and phenotype. Affected individuals present variant genitalia between male and ambiguous, non-functional testicles, non-obstructive azoospermia, generally accompanied by hypergonadotrop...

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Detalles Bibliográficos
Autores principales: Faleiro, Dalana, Iser, Betina, da Silva, André Anjos, Höher, Marcos Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Brazilian Society of Assisted Reproduction 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355451/
https://www.ncbi.nlm.nih.gov/pubmed/34978171
http://dx.doi.org/10.5935/1518-0557.20210092
Descripción
Sumario:46,XX testicular disorder of sex development is a rare syndrome characterized by an inconsistency between genotype and phenotype. Affected individuals present variant genitalia between male and ambiguous, non-functional testicles, non-obstructive azoospermia, generally accompanied by hypergonadotropic hypogonadism, a condition known for high levels of gonadotrophic hormones. In some cases, disorders of sexual development are diagnosed during puberty. However, a significant number of individuals show physical characteristics common to males that are not clinically suspicious. As a result, patients with the condition may remain undiagnosed. Many individuals with the condition are diagnosed as adults, due to infertility. The present study discusses the case of an individual who underwent karyotyping for sterility and was found to be a 46,XX male. Despite having a female karyotype, the presence of the sex-determining region Y gene explains the manifestation of masculine secondary sex characteristics. This report highlights the importance of genetic evaluation, considering that carriers may present significant complications resulting from the disorder. Based on correct diagnosis, it is possible to improve a carrier's quality of life through multidisciplinary approaches and help them achieve pregnancy through assisted reproductive technology treatments.