Abstract
The birth of a child with ambiguous genitalia is a challenging and distressing event
for the family and physician and one with life-long consequences. Most disorders of
sexual differentiation (DSD) associated with ambiguous genitalia are the result either
of inappropriate virilization of girls or incomplete virilization of boys. It is important
to establish a diagnosis as soon as possible, for psychological, social, and medical
reasons, particularly for recognizing accompanying life-threatening disorders such
as the salt-losing form of congenital adrenal hyperplasia. In most instances, there
is sufficient follow-up data so that making the diagnosis also establishes the appropriate
gender assignment (infants with congenital adrenal hyperplasia, those with androgen
resistance syndromes), but some causes of DSD such as steroid 5α-reductase 2 deficiency
and 17β-hydroxysteroid dehydrogenase deficiency are associated with frequent change
in social sex later in life. In these instances, guidelines for sex assignment are
less well established.
Keywords
disorders of sexual development (DSD) - Jost model - anti-Müllerian hormone - testosterone
- dihydrotestosterone - chromosomal sex - gonadal sex - phenotypic sex - androgen
insensitivity - congenital adrenal hyperplasia (CAH) - placental aromatase deficiency
- ovotesticular DSD - defects in androgen synthesis/action - 5α-reductase 2 deficiency
- mixed gonadal dysgenesis
