Congenital Adrenal Hyperplasia

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thoughts on dsd and how this applies to people with cah in australia
Jul. 18th, 2008   2:03am

hello,  i am writing to seek views of people on this board , if they are prepared to share them in a discussion about the following two articles. I often find myself in the position where i here the voices of a small number of people who claim to the DSD or intersex representives of the  community in australia to government and in my capacity as a citizen who often sits on the same committees would like to hear from a broader range of people.

 

Scientists find sex gene

  • Dan Harrison
  • July 6, 2008

MELBOURNE researchers have discovered how a change to one gene halts the process of an embryo becoming a baby boy.

The research could lead to improved treatment options for the one in 4500 people who suffer from a disorder of sex development (DSD) — a family of conditions that occur when the sex chromosomes do not match the genitals.

Some DSD children are born with ambiguous or incomplete genitalia, making it difficult for parents and doctors to identify whether the child is a boy or a girl. In such cases, surgery is usually performed to assign female genitalia. Others are born with female genitalia despite being genetically male, and are raised as girls. Many DSD sufferers are infertile.

Researchers at Melbourne's Prince Henry's Institute have learned how an extra copy of a gene on the X chromosome stops testicles developing in babies who are genetically male.

When the researchers increased the presence of the gene, called DAX1, in cells grown in a laboratory, the cells reduced production of a protein critical for testicle formation.

The halting of testicle formation in turn prevents the production of testosterone, which is necessary for development of the penis.

Researcher Louisa Ludbrook said she hoped the greater understanding of the gene's action could improve the lives of DSD sufferers. "By knowing exactly the point when development of the testicles is blocked, we can help parents and doctors decide on the best treatment options for these kids, be it hormone therapy or surgery," she said.

Tony Briffa, president of AIS Support Group Australia, a support group for people with a disorder of sex development, welcomed the discovery.

 

 

 

and the second article by sopia speilberg http://www.intersexualite.org/Telling_the_Truth_about_Chromosomes_and_Karyotypes.pdf

Alex




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