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The sheer number of genes involved in sex development, the variety of their products, and the diversity of their function has led to the notion of sex as a complex trait in which “molecular sex” influences the various steps of sex determination and sex differentiation.The spectacular molecular advances in our understanding of sex now warrant a reevaluation of the standard classification, which has become too vague to be efficient for the accurate analysis of outcomes data.
Fifty international experts and representatives of patient advocacy groups were divided into six working groups (genetics, brain programming, medical management, surgical management, psychosocial management, and outcome data), which eventually all agreed on a consensus statement.
Human sexual anatomy was categorized into five types in the 19th century.
An individual could be a female or a male (with typical feminine or masculine external genitalia, respectively), a female or male pseudohermaphrodite, or a true hermaphrodite.
Male or female pseudohermaphrodite—terms no longer appropriate—referred to individuals with ambiguous external genitalia, a blurring between masculine and feminine features, and the presence of either testes or ovaries.
True hermaphrodites have both testicular and ovarian tissue.
The fantasies attached to the word “hermaphrodite” have also given rise to a whole industry catering to individuals with paraphilias, looking for sexual gratification with a mythical image of a Man/Woman.
Why has the gonado-centric model not changed throughout the years?
From a biological standpoint, the appearance of the external genitalia is only one parameter among many, including chromosomal constitution, the sequence of sex-determining genes, gonadal structure, the profile of gonadal hormones, and the internal reproductive structures.
However, sex and sexuality have long been an exception to modern standards of science because of the perceived consequences of scientific findings on controversial social debates.
For instance, a woman with androgen insensitivity syndrome would find herself being called a male pseudohermaphrodite, in complete contradiction to her phenotypic sex and, most probably, gender identity.
In addition, inclusion of gender in a diagnostic label increases confusion for the parents and even the medical team at the time of gender assignment decisions.
Second, terms should be as precise as possible and should reflect the genetic etiology when available.