Disorders of sex development (DSD) leading to ambiguous genitalia at birth question the decision of gender assignment. Although some of these medical conditions are well known 45,X/46,XY mixed gonadal dysgenesis is less characterized. Gender assignment followed by surgery and hormonal therapy is difficult in the management of 45,X/46,XY patients with abnormal external genitalia at birth. Further there is a lack of consistent published data on the pubertal development and outcome of these patients.

Martinerie et al. conducted a multicentre, retrospective study to describe the pubertal course of 20 45,X/46,XY patients born with ambiguous genitalia and raised as boys. Their study shows that 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course, a final short stature, and impaired fertility, which should therefore be taken into consideration when assigning gender at birth and determining the most appropriate course of treatment. Martinerie et al. (2012) European Journal of Endocrinology 166 687-694.

Read the full article at: DOI:10.1530/EJE-11-0756.