Síndrome de Reifemstein-KSinefelter-Albright
Abstract
Se presenta el primer caso en Cuba del síndrome de Reifeinstein-KMnefeiter-Albright; se valora su historia y se señala la definición del síndrome dada por sus autores en 1942. Se afirma cómo los distintos autores observaron que los túbulos pueden estar totalmente hialinizados o con todas las células germinales, pero disminuidos; se señalan en el paciente, cuyo caso se describe: su fenotipo, la ausencia de recessus temporalis, la ginecomastia bilateral, hipospadias, testículos y pene pequeños; se avala mediante estudio, como cariotipo XY; cromatina sexual oral y en sangre: negativos; 17-hidroxicorti- costeroides: normales; y 17-cetosteroides: disminuidos. La biopsia bitesticular señala túbulos seminíferos de diámetro normal, con células de Leydig normales y de Sertoli anormales; dermatoglifos normales. Se afirma el diagnóstico diferencial del caso.Downloads
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