Control of sex development. Long-term outcomes in males with disorders of sex development. It is now recognized that in syndromic and non-syndromic DSD, recurrent, clinically significant regions of copy number variation CNV may be found in approximately a fifth of individuals.
The term disorders of sex development DSD embraces all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex 1. Although a concern about the development of external genitalia may exist in one in newborn infants, discrete genetic conditions that underlie DSD are generally rarely identified.
Her clinical and hormonal profile could be defined only after the first weeks of life, when the CYP21A2 study had already been started.
This patient was born as the result of a consanguineous mating and presented ambiguous genitalia at birth. Declaration of interest The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
The American Journal of Medicine.
Conversely SRY translocation appeared to be involved only in less than a third of our cases. Rosenthal, MD Pediatric endocrinologist. Evening Standard. Views Read Edit View history. At the present time, there are several different forms of NGS technologies.
We can discuss the diagnosis and management of DSD, and answer questions and concerns about genital surgery. Further information: Intersex human rights and Intersex medical interventions. RQ 40 41 AR c. Out of 12 mutations, eight were missense, while four were truncating.
American Journal of Medical Genetics. Policy challenges of clinical genome sequencing.