Disorder in the sexual testicular 46,XX in evaluation of the male fertility. Presentation of a case

Daniel Quintana Hernández; Ainadys Herrera Luis; Ernesto R Noa Domínguez; Danisbel Quintana Mora

2018, Number 3

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Revista de Ciencias Médicas de la Habana 2018; 25 (3)

Disorder in the sexual testicular 46,XX in evaluation of the male fertility. Presentation of a case

Quintana HD, Herrera LA, Noa DER, Quintana MD

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Language: Spanish
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Page: 254-259
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ABSTRACT

The disorder in the sexual testicular 46,XX development is an infrequent cause of male infertility. With the objective of reporting a case, diagnosed in the clinical genetics consultation of Mayabeque Medical Genetic Provincial Center, a phenotypically male patient was presented complaining of primary infertility with azoospermy and testicular atrophy. Karyotype was performed and it showed 46,XX and FISH of SRY gen translocate in a chromosome X. It was concluded that the diagnosis to couples with this cause of infertility guarantee an adequate management by the multidisciplinary care team and the genetic control allows offering other reproductive choices.