Differences or disorders of sex development (DSD) describe a biological discrepancy between chromosomal, gonadal, and phenotypical sex, often affecting the morphology of the genito-reproductive organs. DSD is most often due to genetic abnormalities affecting chromosomal composition or single genes. Most children with 46,XX karyotype and DSD have congenital adrenal hyperplasia due to 21-hydroxylase deficiency and should be regarded as unchallenged females. For children with 46,XY DSD, the situation is even much more complicated since indeed an exact genetic diagnosis is still missing. Depending on the phenotype, this may be true for more than 80% of children with severe hypospadias, in contrast in post-pubertal patients with clinical evidence of complete androgen insensitivity, whom 95% show an underlying mutation within the androgen receptor gene. DSD and numerical aberrations of sex chromosomes, especially 45,X/46,XY mosaicism depends essentially on the assessment of the exact clinical morphology with a focus of the external and internal genital structures and of the endocrine and reproductive function of the gonads with the aim for a best prognosis of the child. This assessment should be done in a center of expertise.
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)