46,XX maleness (XX male syndrome) is a rare disorder occurring in about 1 in 20,000–25,000 newborn males (De la Chapelle 1972; Rajender et al. 2006). Three clinical categories of sex-reversed 46,XX individuals have been identified: (1) XX males with normal external or internal genitalia; (2) XX males with ambiguity, usually detected at birth by external genital ambiguities such as hypospadias, micropenis, or clitoromegaly; and (3) XX true hermaphrodites, who carry internal or external genital ambiguities detected at birth (Valetto et al. 2005). Recently, the term “46,XX testicular DSD (disorder of sex development)” has been proposed for XX male or XX sex reversal (Lee et al. 2006; Hughes et al. 2006; Hughes 2008).

Synonyms and Related Disorders

46,XX disorder of sex development; 46,XX sex reversal syndrome

Genetics/Basic Defects

  1. 1.

    Sex differentiation: Please see the chapter on XY Female Syndrome (Vilain 2009).

  2. 2.
    The SRY gene (Valetto et al. 2005)
    1. a.

      Located in the short arm of Y...


Congenital Adrenal Hyperplasia Testosterone Replacement Therapy Gonadal Dysgenesis Ambiguous Genitalia Testosterone Enanthate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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