Background: Mixed gonadal dysgenesis (MGD) is the second most frequent cause of XY disorders of sex development (DSD). Genotype is either X/XY or XY, while the phenotype ranges from partial to complete gonadal dysgenesis, and from female to male external genitalia. Müllerian remnants are present in these patients because of insufficient or untimely foetal secretion of Müllerian inhibiting factor (MIF).
Aim: To assess the therapeutic policy of physicians of patients with MGD regarding the removal of the Müllerian remnants.
Methods: Physicians who entered data on gonadal dysgenesis into the I-DSD registry were e-mailed and asked, When, if ever, do you recommend the removal of the rudimentary uterus from boys with gonadal dysgenesis associated with a X/XY or XY karyotype?
Results: Thus far, 20 physicians have responded. Thirteen promote removal of the Müllerian remnants in childhood at the same time as the removal of the dysgenic gonads because of the risk of recurrent infections, uterine adenocarcinoma, or in order to prevent any ambiguity in gender identity. Two physicians advise delaying removal until adulthood for patient consent and understanding, four physicians do not recommend removal unless there is a medical reason, and two physicians assess their patients case by case.
Conclusion: Even though there is a shift from the earlier optimal gender policy (the paternalistic approach) to a full consent policy, most of the responding physicians contend that the Müllerian remnants should be removed as soon as the decision is made to raise the child as male.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology