Search
 
 

Display results as :
 


Rechercher Advanced Search

Keywords

Latest topics
» IEG Meeting February 8, 2016
Wed Jan 27, 2016 5:59 pm by Lorri Kat

» JPS/IEG Meeting February 1, 2016
Wed Jan 27, 2016 5:57 pm by Lorri Kat

» Jamestown Pride Society Public Meetings
Wed Jan 27, 2016 5:50 pm by Lorri Kat

» IEG Meeting February 8, 2016
Wed Jan 27, 2016 5:33 pm by Lorri Kat

» JPS/IEG Year Beginning Meeting
Wed Jan 27, 2016 5:19 pm by Lorri Kat

» Jamestown Pride Society Year Beginning Meeting
Wed Jan 13, 2016 6:34 pm by Lorri Kat

» IEG Meeting January 11th
Tue Jan 05, 2016 5:27 pm by Lorri Kat

» Introducing myself
Sat Nov 14, 2015 12:39 am by Lorri Kat

» Transgender Day of Remembrance Walk
Sat Nov 14, 2015 12:27 am by Lorri Kat

December 2017
MonTueWedThuFriSatSun
    123
45678910
11121314151617
18192021222324
25262728293031

Calendar Calendar

Affiliates

free forum

Forumotion on Facebook Forumotion on Twitter Forumotion on YouTube Forumotion on Google+


Conditions 46,XX testicular disorder of sex development

View previous topic View next topic Go down

Conditions 46,XX testicular disorder of sex development

Post by Lorri Kat on Sat Jun 13, 2015 3:25 pm

What is 46,XX 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.
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).

How common is 46,XX testicular disorder of sex development?

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

What are the genetic changes related to 46,XX testicular disorder of sex development?

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 unknown. They are more likely to have ambiguous genitalia than are people with the SRY-positive form.
Read more about the SRY gene, the X chromosome, and the Y chromosome.

Can 46,XX testicular disorder of sex development be inherited?

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.

Where can I find information about diagnosis or management of 46,XX testicular disorder of sex development?

These resources address the diagnosis or management of 46,XX testicular disorder of sex development and may include treatment providers.

You might also find information on the diagnosis or management of 46,XX testicular disorder of sex development in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about 46,XX testicular disorder of sex development?

You may find the following resources about 46,XX testicular disorder of sex development helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary
  • Genetic Testing Registry - Repository of genetic test information (2 links)
  • [url=http://www.ncbi.nlm.nih.gov/pubmed?term=%28xx male syndrome[TIAB]%29 AND english[la] AND human[mh] AND "last 3600 days"[dp]]PubMed[/url] - Recent literature
  • OMIM - Genetic disorder catalog


What other names do people use for 46,XX testicular disorder of sex development?


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

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about 46,XX testicular disorder of sex development?

Ask the Genetic and Rare Diseases Information Center.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.


What glossary definitions help with understanding 46,XX testicular disorder of sex development?

autosomal ; autosomal recessive ; cell ; chromosome ; cryptorchidism ; fetus ; gene ; genitalia ; gynecomastia ; hermaphrodite ; His ; hormone ; hormone treatment ; hypospadias ; infertile ; inheritance ; inheritance pattern ; inherited ; protein ; puberty ; recessive ; sex chromosomes ; sex hormone ; sperm ; spermatogenesis ; syndrome ; testes ; testosterone ; translocation
avatar
Lorri Kat
Admin

Posts : 119
Join date : 2014-06-26
Location : Jamestown, NY

View user profile http://identityexpression.forumotion.com

Back to top Go down

View previous topic View next topic Back to top

- Similar topics

 
Permissions in this forum:
You cannot reply to topics in this forum