Bioethic

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Critical genetic and hormonal switches characterize fetal sex development in humans. They are decisive for gonadal sex determination and subsequent differentiation of the genital and somatic sex phenotype. Only at the first glace these switches seem to behave like the dual 0 and 1 system in computer sciences and lead invariably to either typically male or female phenotypes. More recent data indicate that this model is insufficient. In addition, in case of distinct mutations, many of these switches may act variably, causing a functional continuum of alterations of gene functions and -dosages, enzymatic activities, sex hormone levels, and sex hormone sensitivity, giving rise to a broad clinical spectrum of biological differences of sex development (DSD) and potentially diversity of genital and somatic sex phenotypes...

In this perspective article we discuss the limitations of sex as a binary concept and how it is challenged by medical developments and a better understanding of gender diversity. Recent data indicate that sex is not a simple binary classification based solely on genitalia at birth or reproductive capacity but encompasses various biological characteristics such as chromosomes, hormones, and secondary sexual characteristics. The existence of individuals with differences in sex development (DSD) who do not fit typical male or female categories further demonstrates the complexity of sex...