Biochemical and molecular genetic principles of steroid, genital, and gonadal dysgenesis are reviewed in this article. Description of the most common genes, mutations and polymorphisms of steroidogenic enzymes (e.g. 17a-hydroxylase, 21-hydroxylase), transcription factors (e.g. SF-1), nuclear and other hormonal receptors (e.g. DAX-1, androgen receptor), regulatory proteins (e.g. StAR protein, anti-Müllerian hormone, inhibins) are empha- sized. The correlation with human pathology is another essential part of this article.

        Key words: congenital adrenal hyperplasia, gonadal dysgenesis, pseudohermaphroditism, salt wasting syn- drom.