Background: In this epidemiological study, we sought to capture the incidence of ambiguous
genitalia in neonates and to describe initial management strategies. Methods: We used the
registry for rare diseases in pediatrics in Germany to ascertain cases and asked reporting
institutions for information on phenotype, laboratory tests, imaging results, diagnosis, initial
management and sex assignment. Results: We identified 80 cases within a 2-year study
period and calculated an incidence of 2 per 10,000 births with ambiguous genitalia per year …

Full knowledge of the overall medical involvement and strategies at this initial and crucial
time is needed. More studies should be performed and reported because of the paramount
importance of this neonatal period. Reference centers may in the end gather most, if not all
the cases of genital ambiguity. However, the gap between them and the first care provider
should be further evaluated within networking projects and epidemiological programs.
Gender assignment is a central issue. The dominant view has been that it largely depended …