vanishing testes syndrome
Quick Summary
Vanishing testes syndrome, also known as anorchism, is a rare condition where one or both testes disappear before birth. This can lead to a child being born with female genitalia if the testes vanish early in pregnancy, or ambiguous genitalia if they disappear between 8 and 10 weeks of gestation. If the disappearance occurs after this critical period, the individual is born male but without testes.1
Undescended testes, or cryptorchidism, is a more common anomaly where one or both testes fail to descend into the scrotum. This can affect fertility and increases the risk of testicular injury and cancer. Treatment for cryptorchidism typically involves hormonal therapy or surgery, ideally before the age of two. Pseudohermaphroditism is a related condition where an individual has a single chromosomal and gonadal sex but exhibits physical characteristics of both sexes.21
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