There are no clear estimates of the incidence rate of subjects presenting with ambiguous genitalia at birth, and only a proportion of them present a major challenge regarding male or female assignment.However, it has been estimated to be approximately 1 in 4,500-5,500 [5].

Data are not available to determine the exact frequency of specific DSDs, while only a small fraction of those with DSDs require extensive multidisciplinary assessment to reach a recommendation for gender assignment.

The incidence rate among subjects with 46, XY to have a DSD has been estimated to be 1 in 20,000 births.

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Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups.

Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves Qo L.

An effort was made to include representatives from a broad perspective including support and advocacy groups.

The goal of patient care is focused upon the best possible quality of life (Qo L). An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed.

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Data remain inadequate to address major concerns including the assignment of male or female sex, predictors of gender identity development, surgical issues regarding timing and consent and the best possible fertility preservation measures.