A Case of 47XYY Syndrome with Azoospermia / 대한비뇨기과학회지

ABSTRACT

The XYY syndrome is a rare entity, which is a phenotypic man with a 47 XYY It was first reported by Sandberg and associates in 1961. The XYY individual is seldom detected during childhood or even in adult because the features of XYY syndrome are often subtle and not overtly suggestive of a chromosomal abnormalities. We have reported a case of XYY syndrome associated with absence of pubic and axillary hair, no voice mutation and azoospermia. Clinical, endocrinologic and genetic studies were presented and theories regarding the etiology of the XYY syndrome were discussed with review of the literature.