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INTRODUCTION

Disorders of sexual development (DSD) are a group of congenital conditions in which there is abnormal development of chromosomal, gonadal, or anatomic sex. DSDs can be divided into 3 broad categories: (1) 46,XX DSD, (2) 46,XY DSD, and (3) sex chromosome DSD. Table 532-1 presents the classification of DSD for clinical use. The clinical presentation, management approach, and considerations for sex assignment are discussed in the final section of this chapter.

TABLE 532-1CLASSIFICATION OF DISORDERS OF SEXUAL DEVELOPMENT (DSD)

46,XX DISORDERS OF SEXUAL DEVELOPMENT

Persons with 46,XX DSD have a 46,XX karyotype and can present with variable degrees of genital ambiguity of the urogenital sinus and external genitalia. The disorders are subdivided into those of gonadal (ovarian) development and androgen excess, as shown in Table 532-1.

DISORDERS OF GONADAL (OVARIAN) DEVELOPMENT

Ovotesticular DSD

This is a rare condition in which an individual has the presence of both ovarian and testicular tissue. Patients can present with a wide range of genital ambiguities as well as a combination of both Wolffian and Müllerian structures depending on the degree of functioning testicular tissue. Only a small proportion of children with XX ovotesticular disorder of sexual development are SRY (sex determinining region on the Y chromosome) positive. The majority of patients with ovotesticular DSD have a 46,XX karyotype; however, other karyotypes such as 46,XY and mosaics such as 46,XX/46,XY have also been associated. SRY translocation in XX individuals can lead to ovotesticular DSD; however, in many cases, the specific genes responsible for development of an ovotestes have not been or cannot be identified.

46,XX Testicular DSD

This is a rare condition in which both gonads develop as testes without the presence of ovarian tissue or Müllerian structures in a 46,XX individual. Most cases are caused by SRY gene ...

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