Disorders of sex development (DSD) are congenital conditions involving atypical development of chromosomal, gonadal, or anatomical sex. Clinical manifestations include ambiguous genitalia, discordance between chromosomal and phenotypic sex, disorders of puberty, gonadal dysgenesis, infertility, and syndromic developmental abnormalities.

This panel includes genes associated with the major forms of 46,XX and 46,XY DSD, including gonadal dysgenesis, disorders of androgen synthesis and action, adrenal steroidogenesis disorders, hypogonadotropic hypogonadism, and syndromic disorders of reproductive development. Representative genes include SRY, SOX9, NR5A1, WT1, AR, SRD5A2, CYP21A2, CYP17A1, HSD17B3, AMH, and AMHR2.

This panel is recommended for patients with ambiguous genitalia, discordance between karyotype and phenotype, delayed or atypical puberty, gonadal dysgenesis, or clinical features suggestive of an inherited disorder of sex development.