F1000 Commentary: Treatment of adults with complications from previous hypospadias surgery / Why does a newborn with atypical genitalia need medical screening?

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 newborn with ambiguous genitalia is also found to have “dysplastic gonads” (gonads that didn’t form as gonads normally do) or ovotestes, clinicians will be concerned that the gonads could be cancerous and they will typically schedule surgery early to remove the dysplastic gonads or the testicular portion of ovotestes.

Posted in: Medical Care

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