Trastorno del desarrollo sexual testicular 46,XX en evaluación de la fertilidad masculina. Presentación de caso

Authors

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

Keywords:

desarrollo sexual/genética, disgenesia gonadal 46 xx, testículos/anomlías, infertilidad, cariotipo, genes sry, asesoramiento genético.

Abstract

El trastorno del desarrollo sexual testicular 46,XX es una causa infrecuente de infertilidad masculina. Con el objetivo de reportar un caso diagnosticado en la consulta de genética clínica del Centro Provincial de Genética Médica de Mayabeque, se presenta paciente fenotípicamente masculino que acude por infertilidad primaria con azoospermia y atrofia testicular. Se realiza cariotipo que informa 46,XX y FISH del gen SRY translocado en un cromosoma X. Se concluyó que el diagnóstico oportuno a parejas con esta causa de infertilidad garantiza un adecuado manejo por el equipo de atención multidisciplinario y el asesoramiento genético permite ofrecer otras opciones reproductivas.

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References

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Published

2018-12-20

How to Cite

1.
Quintana Hernández D, Herrera Luis A, Noa Domínguez ER, Quintana Mora D. Trastorno del desarrollo sexual testicular 46,XX en evaluación de la fertilidad masculina. Presentación de caso. Medimay [Internet]. 2018 Dec. 20 [cited 2024 Nov. 4];25(3):254-9. Available from: https://revcmhabana.sld.cu/index.php/rcmh/article/view/1284

Issue

Vol. 25 No. 3 (2018)

Section

CASE REPORTS

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