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Disorders of sex development DSD , ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Here we describe three discrete changes in copy number that are the likely cause of the GD. Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad.

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Quality of life of patients with 46,XX and 46,XY disorders of sex development

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Quality of life of patients with 46,XX and 46,XY disorders of sex development

Some things in life are better on repeat: Friends , perfectly sunny beach days, your trusty manicure. Your sexcapades, though? Definitely not one of them. Even the hottest spark in the bedroom needs new sex positions to stoke the flames from time to time—otherwise things get boring, fast. In short, your brain craves newness, and especially for women, your brain is very involved in your excitement and satisfaction. It can also work wonders for your relationship.
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Disorders of sex development DSD result from abnormalities in the complex process of sex determination and differentiation. An important consideration to guide the assignment of social sex in newborns with ambiguous genitalia is the quality of life QoL of these patients in adulthood. The rarity of most DSD conditions makes it difficult to conduct a long-term follow-up of affected patients through adulthood.
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