46,XX Testicular Disorder

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Tang, P. 46,XX Testicular Disorder. Encyclopedia. Available online: https://encyclopedia.pub/entry/6014 (accessed on 20 September 2026).

Tang P. 46,XX Testicular Disorder. Encyclopedia. Available at: https://encyclopedia.pub/entry/6014. Accessed September 20, 2026.

Tang, Peter. "46,XX Testicular Disorder" Encyclopedia, https://encyclopedia.pub/entry/6014 (accessed September 20, 2026).

Tang, P. (2021, January 04). 46,XX Testicular Disorder. In Encyclopedia. https://encyclopedia.pub/entry/6014

Tang, Peter. "46,XX Testicular Disorder." Encyclopedia. Web. 04 January, 2021.

46,XX Testicular Disorder

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/46xx-testicular-disorder-of-sex-development

46,XX testicular disorder of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern normally found in females, have a male appearance. People with this disorder have male external genitalia. They generally have small testes and may also have abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). A small number of affected people have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Affected children are typically raised as males and have a male gender identity.

genetic conditions

References

Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R,Nihoul-Fekete C, Rappaport R, Fellous M. Familial case of 46,XX male and 46,XXtrue hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. CR Acad Sci III. 1993;316(4):375-83.
Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreaveyK, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males andreview of the literature. J Pediatr Endocrinol Metab. 2005 Aug;18(8):739-48.
Grigorescu-Sido A, Heinrich U, Grigorescu-Sido P, Jauch A, Hager HD, Vogt PH, Duncea I, Bettendorf M. Three new 46,XX male patients: a clinical, cytogeneticand molecular analysis. J Pediatr Endocrinol Metab. 2005 Feb;18(2):197-203.
Kolon TF, Ferrer FA, McKenna PH. Clinical and molecular analysis of XX sexreversed patients. J Urol. 1998 Sep;160(3 Pt 2):1169-72; discussion 1178.
Kremen J, Chan YM, Swartz JM. Recent findings on the genetics of disorders of sex development. Curr Opin Urol. 2017 Jan;27(1):1-6. Review.
Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med Genet A. 2008 May15;146A(10):1335-40. doi: 10.1002/ajmg.a.32284.
Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K.SRY-negative 46,XX male with normal genitals, complete masculinization andinfertility. Mol Hum Reprod. 2006 May;12(5):341-6.
Rizvi AA. 46, XX man with SRY gene translocation: cytogenetic characteristics,clinical features and management. Am J Med Sci. 2008 Apr;335(4):307-9. doi:10.1097/MAJ.0b013e31811ec1b4.
Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical,endocrinological, and epigenetic features of the 46,XX male syndrome, comparedwith 47,XXY Klinefelter patients. J Clin Endocrinol Metab. 2007Sep;92(9):3458-65.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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