Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist From Experienced Clinicians

Jean D. Wilson, M.D.; Marco A. Rivarola, M.D.; Berenice B. Mendonca, M.D., Ph.D.; Garry L. Warne, A.M., M.B.B.S., F.R.A.C.P.; Nathalie Josso, M.D., Ph.D.; Stenvert L.S. Drop, M.D., Ph.D.; Melvin M. Grumbach, M.D.


Semin Reprod Med. 2012;30(5):339-350. 

In This Article

Long-term Follow-up of Subjects with Ambiguous Genitalia

In addition to surgical correction and hormonal supplementation/replacement, all individuals with DSD need sympathetic and supportive care by physicians, and it is important in all to make the transition from pediatric to adult care at the appropriate time. Several special problems need to be kept in mind. One, these subjects may have to come to grips with the fact that they are likely to be infertile or at the least will require complicated assisted reproduction procedures to conceive. Indeed, Masters and Johnson believed that the diagnosis of infertility in women with gonadal dysgenesis, complete androgen insensitivity, or congenital absence of the vagina leaves many with a feeling of being incomplete or inadequate.[2] Two, although I have never seen hard figures on the subject the incidence of depression is believed by some physicians to be increased in these patients. Three, although some subjects adjust very well to their diagnosis and sex of rearing, some do not, possibly because of confusion about gender identity/role behavior that is concealed from their physicians or their families. Hopefully, these various problems will be less hidden and more openly acknowledged with the development of appropriate patient support groups.