Información del artículo
Las anomalías que involucran a los cromosomas sexuales son las más frecuentes entre el conjunto de todas las alteraciones cromosómicas. Aproximadamente 1 de cada 1.000 varones es portador de un cromosoma Y adicional, ya sea en forma pura (47,XYY) o en diversas variantes de mosaicismos. Existe una notable variabilidad en la presentación clínica y el pronóstico de cada una de las aneuploidías que comprometen a los cromosomas sexuales. En individuos con cariotipo XYY se han descrito variables características fenotípicas y conductuales. La función gonadal y reproductiva de los varones XYY adultos suele ser normal y habitualmente son fértiles. Se describe el caso de un varón de 45 años con esterilidad primaria por azoospermia con aplasia de células germinales en la biopsia de testículo. El estudio citogenético mostró un cariotipo XYY y no se evidenciaron microdelecciones de la región AZF de los cromosomas Y. Se reseñan los principales aspectos del síndrome XYY y se destaca su variable presentación clínica.
Palabras clave:
Cariotipo XYY
Azoospermia
Aneuploidías
Aplasia germinal
The anomalies that involve sexual chromosomes are the most frequent of all chromosomal alterations. Approximately 1 in every 1000 males carries an additional Y chromosome, either in pure form (47, XYY) or in diverse mosaicisms variants. There is wide variability in the clinical presentation and prognosis of sexual chromosome anomalies. In XYY males various phenotypic and behavioral characteristics have been described. The gonadal and reproductive functions in adult XYY males are usually normal and these individuals are usually fertile. We describe the case of a 45-year-old man with primary infertility due to azoospermia with germ cell aplasia in testicular biopsy. Cytogenetic study showed an XYY karyotype without microdeletions of the AZF region of Y chromosomes. The main aspects of XYY syndrome are outlined, and its variable clinical presentation is emphasized.
Key words:
XYY karyotype
Azoospermia
Aneuploidies
Germ cell aplasia
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