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Congenital Absence of the Testes
Background
Congenital absence of the testes: Anorchia
Congenital absence of the testes (anorchia) is a very rare condition with most paediatric endocrine specialists seeing only two or three boys at any particular time.
Although the testes are absent the male external genitalia is otherwise normal. This suggests that there was normal testicular function in early fetal life and normal male differentiation took place. The testes are presumed, therefore, to have regressed for some reason. Torsion of the testes (twisting) in fetal life has been suggested as a cause.
Boys may also present with rudimentary non-functioning testes, palpable in the scrotum. This is quite a different condition from anorchia. The importance of making sure that there is no testosterone response to a stimulus is firstly to document that the diagnosis is correct and secondly to make sure that there is no testicular tissue present. Testes may be absent from the scrotum but may be present within the abdomen which is where they come from in fetal life. It is important to look for a male sex hormone (testosterone) response. If present, the testicular tissue needs to be found because of the potential for development of malignancy within the tissue remnant.
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