What is Denys-Drash Syndrome?
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
Denys-Drash syndrome is marked by kidney disease which begins within the first few months of life. Individuals who suffer from Denys-Drash syndrome have a condition called diffuse glomerulosclerosis, in which scar tissue forms throughout the tiny blood vessels in the kidneys (glomeruli) that filter waste from blood. This condition often leads to kidney failure in childhood. People with Denys-Drash syndrome have an estimated 90 percent chance of developing a rare form of kidney cancer known as Wilms tumor. Affected individuals may develop multiple tumors in one or both kidneys.
Although males with Denys-Drash syndrome have the typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear completely female. The testes of affected males are undescended, which means they are abnormally located in the pelvis, abdomen, or groin. As a result, males with Denys-Drash are typically infertile.
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