Description

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.

DAD-48: 1982: Delivery of sealed ballot container to the central counting station. DAD-47: 1982: Whether affidavits of residency may be required of voters in Rural Fire Prevention District election and whether real property ownership requirements to vote in said election is constitutional. I split up from her father five years ago and although I have a reasonably amicable relationship with him, my daughter does not. He's in a new relationship and chooses to believe what he wants; he.

At puberty, most affected individuals require treatment with the male sex hormone testosterone to induce development of male secondary sex characteristics such as facial hair and deepening of the voice (masculinization). Hormone treatment can also help prevent breast enlargement (gynecomastia). Adults with this disorder are usually shorter than average for males and are unable to have children (infertile).

Frequency

Approximately 1 in 20,000 individuals with a male appearance have 46,XX testicular disorder.

Causes

People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males usually have one X chromosome and one Y chromosome (46,XY).

The SRY gene, normally located on the Y chromosome, provides instructions for making the sex-determining region Y protein. The sex-determining region Y protein causes a fetus to develop as a male.

In about 80 percent of individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs as a random event during the formation of sperm cells in the affected person's father. The translocation causes the SRY gene to be misplaced, almost always onto an X chromosome. If a fetus is conceived from a sperm cell with an X chromosome bearing the SRY gene, it will develop as a male despite not having a Y chromosome. This form of the condition is called SRY-positive 46,XX testicular disorder of sex development.

About 20 percent of people with 46,XX testicular disorder of sex development do not have the SRY gene. This form of the condition is called SRY-negative 46,XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes affecting other genes have been identified. Individuals with SRY-negative 46,XX testicular disorder of sex development are more likely to have ambiguous genitalia than are people with the SRY-positive form.

46: A Date With Dad Daughter

Learn more about the genes and chromosomes associated with 46,XX testicular disorder of sex development

Additional Information from NCBI Gene:

Inheritance

SRY-positive 46,XX testicular disorder of sex development is almost never inherited. This condition results from the translocation of a Y chromosome segment containing the SRY gene during the formation of sperm (spermatogenesis). Affected people typically have no history of the disorder in their family and cannot pass on the disorder because they are infertile.

In rare cases, the SRY gene may be misplaced onto a chromosome other than the X chromosome. This translocation may be carried by an unaffected father and passed on to a child with two X chromosomes, resulting in 46,XX testicular disorder of sex development. In another very rare situation, a man may carry the SRY gene on both the X and Y chromosome; a child who inherits his X chromosome will develop male sex characteristics despite having no Y chromosome.

The inheritance pattern of SRY-negative 46,XX testicular disorder of sex development is unknown. A few families with unaffected parents have had more than one child with the condition, suggesting the possibility of autosomal recessive inheritance. Autosomal recessive means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Castle crashers blacksmith magic. Castle Crashers - Blacksmith Pack This content requires the base game Castle Crashers® on Steam in order to play.

Other Names for This Condition

  • 46,XX sex reversal
  • XX male syndrome
  • XX sex reversal

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: 46,XX testicular disorder of sex development
46: a date with dad wants

Genetic and Rare Diseases Information Center

  • 46,XX testicular disorder of sex development

Patient Support and Advocacy Resources

46: A Date With Dad Gives

Catalog of Genes and Diseases from OMIM

46: A Date With Daddy

References

46: A Date With Dad Wants

  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Epub 2006 Mar 23. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Epub 2007 Jun 19. Citation on PubMed