Sexual differentiation and development

Abstract

Normal sexual differentiation requires complex molecular events to take place in a precise order, and even though much knowledge has been gained in recent decades, further research is still needed to understand the pathogenesis of different disorders of sexual differentiation. For the clinician who is confronted with a child with sexual ambiguity, it is most important not to guess the sex but to initiate a proper diagnostic procedure, preferably done by a specialist team. Diagnosis generally requires a thorough clinical examination of the child and careful family history taking. The further diagnostic procedure includes cytogenetic hormonal and mutational analyses before sex assignment. Advances in molecular genetics are continuously providing tools for the detection of genetic defects and the primary diagnosis of intersex disorders. These methods may also be applied to prenatal diagnosis and carrier identification. © 2006 Springer-Verlag Berlin Heidelberg.