Infants born with ambiguous genitalia pose challenges to medical providers and can cause parental anxiety and distress. Disorders of sexual development (DSD) are classified into 3 major categories (46,XY DSD, 46,XX DSD, and sex chromosome DSD). A thorough history, physical examination, and appropriate diagnostic testing are needed to identify the underlying etiology. An understanding of normal ...

Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recom...

This paper focuses on the importance of full disclosure in disorders of sex development (DSD), as a universal human right and closely related to informed consent. Full disclosure is not only a way of communicating a diagnosis, it is a methodological constant that permeates all the clinical moments expressed by a multidisciplinary team. As stated by The Chicago consensus, DSD should be referred ...

The disorders of sex development constitute a serious and complex clinical problem requiring the participation of a multidisciplinary team for adequate management of urgencies and long-term follow up. In recent years, the advancement of molecular genetics has generated important advances in our knowledge of these disorders. A landmark in this subject has been the publication of a Consensus Stat...

Disorders of sex development (DSD) comprise a group of conditions in which genotypes do not correlate with the typical male and female phenotypes. Numerical and structural abnormalities involving both autosomes and sex chromosomes have been observed in DSD. Specifically, deletions, duplications, and translocations involving specific genes as well as point mutations and less common aberrations h...