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XX Male

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Atlas of Genetic Diagnosis and Counseling

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....

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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© 2012 Springer Science+Business Media, LLC

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(2012). XX Male. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_250

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