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Revista mexicana de urología
versão On-line ISSN 2007-4085versão impressa ISSN 0185-4542
Resumo
MORALES-ARANDA, JJ. et al. Embryonic testicular regression syndrome: clinical concepts and a literature review. Rev. mex. urol. [online]. 2017, vol.77, n.3, pp.238-243. Epub 04-Jun-2021. ISSN 2007-4085.
SEXUAL development disorders have a low incidence in the pediatric population, but given their intermediate and long-term impact on the life of the patients, they need to be understood. Embryonic testicular regression syndrome is a complex entity that is often unperceived in the medical diagnosis. It is characterized by embryonic exposure to testosterone stimulus, but at some point of development, gonadal regression occurs, resulting in or expressing varying degrees of the masculine phenotype. Diagnosis is made through the detection of the 46, XY karyotype and the determination of castration levels of testosterone, as well as elevated serum luteinizing hormone and follicle-stimulating hormone levels. Serum concentration of the anti-Müllerian hormone is useful as an indirect marker of testicular presence and function. When levels are normal or increased, an androgenic synthesis disorder should be suspected, and embryonic testicular regression syndrome excluded. Management is controversial, because it is individualized according to the degree of phenotypic virilization, but it should always be multidisciplinary. Psychologic support is essential for both the patient and parents.
Palavras-chave : Embryonic testicular regression; Sexual development disorders; Pediatric urology; Intersex.