The cause of a large number of disorders of sex development
(DSD) remains unknown, with 43 percent of patients with the
condition not receiving a definitive diagnosis, research by Murdoch
Childrens Research Institute and The University of Melbourne has
found.
Disorders of sex development occur when the development of male
or female genitals in the embryo is atypical. One in 4500 people is
born with genitals where the sex is not clear at birth. Some
reports state that birth anomalies such as anomalies of the penis
are increasing, and now occur in 1 in 125 boys. This condition is
associated with lifelong psychological issues, reproductive
problems and increased gonad cancer risks.
The final body appearance of someone with DSD with does not
always correspond with what is dictated by the genes. In other
words, a person with DSD may have XY chromosomes (male) but have
biological characteristics of the female sex.
An analysis of 199 DSD patients at the Royal Children's Hospital
found 54% had XY sex chromosomes, 32% had XX sex chromosomes and
14% had mixed sex chromosomes, but a definitive cause for the sex
development disorder was made in just over half of all patients
assessed.
The analysis found that a cause was identified in most patients
with XX chromosomes, but that more than two-thirds of those with XY
chromosomes never received a definitive diagnosis.
Dr Jacky Hewitt, an endocrinologist at Murdoch Childrens
Research Institute, said the analysis highlights the need for more
research into the cause of these disorders.
"Making a correct determination of gender is important both for
treatment purposes, as well as for the emotional well-being of the
child. As the underlying diagnosis can affect the cancer and
infertility risk of patients, decisions of treatment are made
according to diagnosis," she said.
"It's a great concern that some children with this disorder have
no accurate diagnosis. More research into the cause of these
disorders will alleviate uncertainty surrounding the conditions,
helping us to develop better treatments, and may assist with
prevention in the future."
The research findings were presented at the annual meeting of
the North American Society for Pediatric and Adolescent Gynecology
in Chicago.