46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas.
A phenotypic girl with secondary amenorrhea, enlargement of the clitoris, XY gonadal dysgenesis, and bilateral gonadoblastomas is described. The presence of secondary amenorrhea does not obviate the existence of a Y chromosome. The presence of the Y chromosome should be a warning that a gonadal tumor may be present and, therefore, gonadectomy must be done as soon as possible and preferably before puberty.
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics*; D004407:Dysgerminoma / Q000235:genetics* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000648:ultrastructure; D010053:Ovary / Q000648:ultrastructure; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*; D014770:Virilism / Q000235:genetics*; D014998:Y Chromosome / Q000648:ultrastructure