ENGLISH ABSTRACT
JOURNAL ARTICLE
REVIEW
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[Children born with ambiguous genitalia].

BACKGROUND: For 10 - 12 children born with ambiguous genitalia in Norway annually, the sex cannot be decided directly after birth. The condition is now termed "Disorders of Sex Development" (DSD). Severely undervirilised chromosomal and gonadal boys (46,XY DSD) represent the greatest challenge; the sex assignment has traditionally been female. This review focuses on challenges within diagnostics and treatment and provides an update on the scientific basis for sex assignment in 46,XY DSD children.

MATERIAL AND METHODS: The article is based on articles retrieved from Pub Med and own clinical experience.

RESULTS AND INTERPRETATION: During the last decade the scientific basis for sex assignment in children born with ambiguous genitalia has been increasingly questioned. The traditional DSD management has been dominated by the belief that DSD children will develop into the assigned sex regardless of the underlying cause as long as the external genitalia are "normalised" before two years of age. The most severely undervirilised 46,XY DSD children were surgically assigned as females, based on an emphasis of the size and functionality of the phallus being important for later psychosexual development into men. New guidelines for DSD management are now being developed based on recent knowledge about prenatal cerebral exposure to critical sex chromosome genes and hormones that influence foetal brain predisposition for later psychosexual development. Assignment of a sex should be based on a precise diagnosis of the condition's underlying cause and thereby a best possible prediction of future gender identity.

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