Article
45,X/46,XY Mosaicism with Male Phenotype: Case Report.
Urologia internationalis - 1 Jan 2022
Carreño-Martínez Angie Carolina, Mendoza Rojas Victor Clemente, Gil Forero Julian Arturo, Figueroa Victor Hugo, Contreras-García Gustavo Adolfo
Abstract excerpt
Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko...
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