F1000 Commentary: Treatment of adults with complications from previous hypospadias surgery / Which DSD involve known medical risks?

DSD is an umbrella term covering so many different conditions that it is impossible to answer this question briefly. Some DSD are essentially benign and involve very little medical risk; others arise from or involve problems with metabolism that may require medical attention. If you’re concerned about the medical risks associated with a particular disorder of sex development, it is best to look to the medical literature (or ask a clinical specialist) about that particular condition.

In general, when a DSD is suspected, clinicians are concerned about making sure that whatever caused the DSD isn’t also causing (or isn’t in the future going to cause) a medical problem that might make the patient sick.

So, for example, if a child is born with atypical genitals (meaning genitals different from typical male or female genitals), clinicians will want to make absolutely sure that the child is tested to see if the atypical genitals have been caused by Congenital Adrenal Hyperplasia (CAH). CAH is a condition that can sometimes involve a metabolic problem called “salt-losing,” and a newborn with a salt-losing form of CAH can become very sick or even die if the child does not receive proper medical care. In such a circumstance, the atypical genitals essentially constitute a symptom of a serious medical problem (CAH). (Incidentally, children born with typical-looking genitals can also have CAH, which is why most states now have mandatory newborn screening for CAH.)

If a child is born with atypical genitals, clinicians will also want to make sure that the child’s urinary drainage system is working correctly. This can help determine if a child is at an unusually high risk for urinary tract infections. The clinicians may also see whether there are any problems with the child’s reproductive organs that might need attention now or in the future to increase the child’s chances of fertility in adulthood.

If a child or adult is diagnosed as having “dysplastic gonads” (gonads that didn’t form as gonads normally do), or as having ovotestes, clinicians will be concerned that the gonads could be cancerous and they will typically schedule surgery quickly to remove the dysplastic gonads or the testicular portion of ovotestes. Undescended testicles may also increase risk of testicular cancer, particularly after puberty, so undescended testicles typically need to be monitored, surgically descended, or in some cases removed. Some other forms of DSD also may involve an elevated risk of reproductive cancers, for example an increase of risk of Mullerian cancers.

That said, again, many DSD are essentially benign and involve very little medical risk. Individualized care is critical for a proper assessment of medical risk and a good plan for managing those risks.

It is worth noting here that some surgical and hormonal interventions provided to people with DSD may themselves increase risk of medical problems. Careful consideration of the necessity, benefits, and risks of various interventions is critical for affected individuals and for parents who make decisions about medical interventions for their children. “Watchful waiting” will in some circumstances constitute a low-risk medical option for concerns that present some risk but do not represent a medical emergency.

Posted in: Specific Conditions

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