Abstract
This chapter reviews disorders of sexual development (DSD) by noting normal embryology, sex differentiation and gonadal differentiation of the genital system and then reviewing disorders of these processes. Discussed disorders include: DSDs without external genital ambiguity such as Turner syndrome XO (gonadal dysgenesis) with its classic streak ovaries but present fallopian tubes, uterus and vagina as well as 46XY gonadal dysgenesis and familial 46XX gonadal dysgenesis. DSDs in phenotypic males including Klinefelter's syndrome and persistent Mullerian duct syndrome are discussed. DSDs with ambiguous external genitalia including patients with pseudohermaphroditism i.e. female intersex (46,XX DSD) and male intersex (46,XY DSD) patients and those with androgen insensitivity syndrome are reviewed. Various forms of complete and partial gonadal dysgenesis are discussed along with the association of gonadal dysgenesis and gonadoblastomas. The diagnostic imaging evaluation of the ambiguous genitalia patient is reviewed.
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