Anorchia What is anorchia?

Anorchia is a rare birth defect in which a baby boy is born without either testicle. Although the specific cause of the condition is not known, it may be genetic in some cases. During early fetal development, sex organs are forming. Anorchia, or vanishing testes sydnrome, occurs between 12 and 14 weeks when the testes are lost during the phase of male differentiation. The penis and scrotum will form and continue to develop, but both testicles will be absent.

Although the boy will have normal outer genitalia before the onset of puberty, symptoms will appear at the time of puberty. Puberty is later than expected and secondary sex characteristics are not present. The penis does not grow as expected, body and pubic hair are not present and the voice does not deepen as it should during puberty.

To diagnose the condition, a doctor will look at the boy's outer appearance and take note of missing seconday sex characteristics. A variety of tests will be adminsitered, including testosterone, FSH and LH levels, genetic testing, ultrasound, MRI, bone density and possible explatory surgery in the gonads. Treatment options include hormone supplements, prosthetic testicle implants and counseling. Even with treatment, infertility is a possible complication that is associated with the condition.