IN BRIEF

Can Ultrasound or MRI Help Monitor Dysgenetic Gonads for Tumors?

September 25, 2018
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Dysplastic gonads that have neoplasms are often deemed “normal” in imaging studies.

Patients with gonadal dysgenesis and a Y chromosome have a substantial risk of gonadal neoplasm, so providers have traditionally recommended bilateral gonadectomy for them. But relatively recent concerns about caring for children with differences of sex development (DSDs) have called that recommendation into question.

In the past, for example, women with Complete Androgen Insensitivity Syndrome (CAIS) routinely underwent bilateral gonadectomy. Now, many prefer to keep their gonads to allow for normal pubertal development and to avoid or delay hormone replacement therapy. Individuals with CAIS and retained gonads (i.e., those who deferred gonadectomy) typically need routine surveillance imaging studies to assess for gonadal health.

Gonadal dysgenesis with Y chromosome material is a different condition and is characterized by dysplastic testes that may not be functional for hormonal support or fertility. Still, sensitivity to patient concerns led providers at Nationwide Children’s Hospital to ask a question:

In patients with dysplastic gonads, can those gonads be effectively monitored for neoplasm with pelvic ultrasound or MRI?

The THRIVE Program at Nationwide Children’s, which focuses on patients with disorders of sex development and gender concerns, recently published a study suggesting that those methods of monitoring dysgenetic gonads aren’t reliable, and in fact could put individuals at risk for tumor progression by giving a false sense of security about safety.

“Our findings actually provide even more evidence that the most appropriate management for an adolescent with dysgenetic gonads is gonadectomy,” says V. Rama Jayanthi, MD, senior author of the study, chief of Urology at Nationwide Children’s and a member of the THRIVE Program. “The imaging studies have difficulty visualizing the gonads at all, and final pathology discovered tumors on gonads that were judged to be ‘normal’ on imaging.”

The study, published in the Journal of Pediatric Urology, examined a series of ten patients who were phenotypically female with karyotypes 46,XY and 45,X/46,XY. Median age was 13.1 years. All ten had preoperative ultrasonography, and one or both gonads were definitively seen in only four patients. Three patients had MRI scans; two resulted in a definitively visualized gonad.

All gonads definitively seen on ultrasound were deemed “normal” or “small” except one, but a follow-up MRI found no gonadal abnormalities on that patient. Final pathology after gonadectomy, however, found that four of ten patients had gonadal neoplasms.

The authors noted that five of seven gonads seen on ultrasound had a tumor on final pathology, while two of 13 did not. That may suggest dysgenetic gonads are larger and more easily visualized if they have tumors even if they do “appear” normal.

Some of the imaging was performed before referral to Nationwide Children’s, so it is possible that imaging at a tertiary care center with a pediatric-trained radiologist could result in better visualization, says Dr. Jayanthi, who is also a clinical professor of Surgery in the Department of Urology at The Ohio State University College of Medicine.

It is important to consider surgery risks and ethical considerations of gonadectomy, particularly in children not old enough to consent, he says. For patients whose gonads are truly dysplastic, though, the traditional approach appears to be the correct one.

“If this is diagnosed in babies, you do not need to do anything immediately, because tumors are not known to develop until the second decade of life,” says Dr. Jayanthi. “Those gonads should be removed eventually, however. If this is diagnosed in adolescents, the gonads should be removed as soon as possible.”

 

Reference:

Ebert KM, Hewitt GD, Indyk JA, McCracken KA, Nahata L, Jayanthi VR. Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material. Journal of Pediatric Urology. 2017 Dec 23. [Epub ahead of print]