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From a patient's perspective, the nomenclature has two main issues.One is gender labeling, which is often psychologically harmful to the patient.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.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.However, few patients with disorders of sex determination can be explained by mutations in SRY, indicating the existence of other sex-determining genes that have been progressively identified since 1990.As for sex differentiation, most genes that have been well characterized code either for hormonal biosynthetic enzymes or hormone receptors.
For example, individuals born with Congenital Adrenal Hyperplasia have been categorized as female pseudohermaphrodites.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. What seems a rather straightforward concept—with an unequivocal answer to the proverbial delivery room question, “Is it a boy or a girl?”—is in reality full of nuances and complexities, just like any human trait.
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.