46,XX testicular disorder of sex development
Other Names for this Disease
- 46,XX testicular DSD
- 46,XX gonadal dysgenesis
- XX male syndrome
- 46, XX gonadal sex reversal
- XX sex reversal
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X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.46,XX testicular disorder of sex development is a condition in which a person with two
Last updated: 11/3/2015
- Emmanuèle C Délot, PhD and Eric J Vilain, MD, PhD, FACMG. Nonsyndromic 46,XX Testicular Disorders of Sex Development. GeneReviews. May 2015; http://www.ncbi.nlm.nih.gov/books/NBK1416/#xxms.Clinical_Characteristics.
- 46,XX testicular disorder of sex development. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development.
- Genetics Home Reference (GHR) contains information on 46,XX testicular disorder of sex development. This website is maintained by the National Library of Medicine.
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