Abstract

AbstractIn human subjects, the so‐called sex chromosomes are the X‐ and the Y‐chromosomes. The X‐chromosome includes about 1500 genes, only a few of which are involved in sex development (such asDAX‐1andAR). The Y‐chromosome includes a very limited number of genes, but one of them,SRY, is most important in male sex development. Multiple autosomal genes are also involved in sex development. Abnormalities of sex chromosomes can involve errors in the number of sex chromosomes, such as 45,X0 (Turner syndrome), 47,XXX, 47,XXY (Klinefelter syndrome), 47,XYY or mosaicism with at least one cell line having an aberrant number of sex chromosomes. Sex chromosome abnormalities also include aberrations of a single gene of the sex chromosome; resulting in errors in sex differentiation. This may result in 46,XX testicular disorder of sex development (DSD) 46,XY gonadal dysgenesis, 46,XX gonadal dysgenesis or ovatesticular DSD.

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