Familial disorders of sexual differentiation: a clinical and molecular genetic evaluation
(Erfelijke geslachtsdifferentiatie stoornissen: klinische en rnoleculair genetische studies)
2000-03-22
Doctoral Thesis
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Sexual determination and differentiation are series of events starting with the establishment of genetic sex at fertilization, proceeding with the translation of genetic sex into gonadal sex, and culminating in the translation of gonadal sex into body sex. This three-step model is still valid, but actually (2000) much more complex. Many factors involved in normal sexual determination and differentiation became known, were cloned or defined on the molecular level during recent years. Evaluation of human disorders of sexual differentiation became crudal to demonstrate the existence of such factors and initiated the identification of genes important for sexual differentiation. Many other genes or factors are yet to follow, as in a variety of intersex syndromes the underlying defect is still unknown.
Nederlandse Organisatie voor Wetenschappelijk Onderzoek(NWO)
- mutation
- patient
- androgen
- receptor
- deficiency
- family
- study
- androgen insensitivity syndrome
- syndrome
- analysis
- phenotype
- androgen receptor
- binding
- skin fibroblasts
- insensitivity
- diagnosis
- hypospadia
- figure
- androgen receptor gene
- chapter
