ABSTRACT
The birth of a child with ambiguous genitalia is a social emergency. The first encounter of the parents with the health professional in the delivery room may have a lasting impact on parents and their relationship with their infant. It is important to emphasise that the infant with genital anomaly has the potential to become a functional member of society. The European Society for Paediatric Endocrinology and its American counterpart, the Lawson Wilkins Pediatric Endocrine Society, have jointly published a consensus statement on the management and nomenclature of intersex disorders. Smith–Lemli–Opitz syndrome is a rare disorder caused by defect in cholesterol synthesis; it is autosomal recessive in inheritance. A positive family history of unexplained neonatal death, abnormal genital development, abnormal pubertal development, or infertility should be determined, as well as a history of consanguinity. This may point to an autosomal recessive disorder.
