These guidelines have been produced by a consortium consisting mainly of: (1) clinical specialists with experience helping patients with DSDs; (2) adults with DSDs; and (3) family members (especially parents) of children with DSDs. These guidelines are therefore unique in that they benefit from the experiences of the three groups (clinicians, patients, and parents) that comprise the DSD clinical triad. A number of the contributors have been in meaningful communication with dozens or even hundreds of individuals and families with personal experience of DSDs. They drew on those relationships in this work.

While this document benefits from the large literature (medical, sociological, and autobiographical) available on DSDs, consultation with these three groups has helped to address the substantial evidentiary gaps in the medical literature on DSD treatment (e.g., the lack of evidence regarding long-term outcomes of current medical and surgical options). It has also provided an important three-way consensus surrounding the patient-centered care philosophy at the core of these guidelines.

The authors seek continued dialogue with those with personal and clinical DSD experience in order to refine these recommendations. This handbook represents only the first of numerous anticipated editions. Feedback may be provided by using the “contact” link available at

Note: Readers of this clinical handbook are encouraged to utilize the companion “Handbook for Parents” available through A pair of handbooks is also planned for adults with DSDs and for the clinicians who care for them.


The challenges of clinical diagnosis for some DSDs along with the variability in the presentation of some DSDs mean that clinically DSDs are sometimes identified by etiology and sometimes by phenotype. As a consequence, some of the following categories may overlap; for example, a patient may have sex-chromosome mosaicism and ovotestes. This list is not meant to be exhaustive of all conditions that might be considered DSDs, nor is it meant to be exhaustive of diagnosis-specific concerns.

All DSDs have the potential to cause psychosocial distress for patients and their families, particularly if genital anatomy is atypical. Regardless of etiology or phenotype, parents’ and patient’s psychosocial concerns should be promptly addressed by qualified mental health professionals.