Neoplasms and pathology of sexual developmental disorders (intersex)

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Continuing new insights into the biology of sexual development and advances in chromosome analysis have led to early identification and prompt treatment of the intersexual patient, the results of which facilitate a more normal life for affected individuals. Based on these advances, a classification of abnormal sexual development has been developed and refined that correlates the gonadal and genital anatomy with the chromosomal findings and specific genetic or metabolic defects. In a shift from a classification anchored on whether the intersex revolves about a specific gene or whole chromosomal abnormality, the current classification is organised by broader categories into which the intersexual disorders are divided into ‘abnormalities of genital differentiation’, due largely to the abnormal production or sensitivity of a single hormone, or ‘abnormalities in sex determination’, due to abnormal gonadal differentiation, usually testicular, with or without chromosomal aberration. The current classification is an integrated approach to this complex group of disorders and is organised according to the manner by which patients present as well as on the pathophysiological basis of the defect. The classification also groups patients who are at high risk for development of gonadal neoplasia.

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