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Chapter: Pathology: Genetic Disorders

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Disorders of Sexual Development (DSD)

Determination of sex can be established by a variety of methods that do not neces-sarily completely agree.

DISORDERS OF SEXUAL DEVELOPMENT (DSD)

Determination of sex can be established by a variety of methods that do not neces-sarily completely agree.

·            Karyotypic (genetic) sex refers to which sex chromosomes an individual has;the presence of a Y chromosome results in testicular development.

 

·            Gonadal sex refers to the presence of ovarian or testicular tissue.

 

·            Ductal sex refers to the presence of Müllerian (female – Fallopian tube, uterus,cervix, and upper portion of vagina) or Wolffian (male – epididymis, vas def-erens, seminal vesicles, and ejaculatory ducts) duct adult derivatives.

 

·            Phenotypic (genital) sex refers to the external appearance of the genitalia.

 

Individuals with ovotesticular disorder have both ovarian and testicular tissue, which is an extremely rare condition. The most common karyotype of ovotesticular disorder is 46,XX. The gonadal sex can be either an ovary on one side and testis on the other, or ovotestes, in which there is a gonad with both testicular and ovarian tis-sue. The ductal sex is often mixed, and the phenotypic sex shows ambiguous genitalia.

The 46,XX DSD category includes individuals (formerly characterized as female pseudohermaphrodites) with disorders of ovarian development, androgen excess, vaginal atresia, and cloacal exstrophy. The 46,XY category includes individuals (formerly characterized as male pseudohermaphrodites) with disorders of testicu-lar development, disorders of androgen synthesis, severe hypospadias and cloacal exstrophy.


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