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
KeywordsCongenital Adrenal Hyperplasia Testosterone Replacement Therapy Gonadal Dysgenesis Ambiguous Genitalia Testosterone Enanthate
- Liu, L., Feng, L. N., & Yang, L. L. (2005). The phenotype and genetics of 46,XX male syndrome. Endocrinol Foreign Medical Sciences, 25, 283–285.Google Scholar
- Vilain, E. J. (2009). 46,XX testicular disorder of sex development (Overview). GeneReviews. Updated May 26, 2009. Available at http://www.ncbi.nlm.nih.gov/books/NBK1416/