Anorchism (or anorchia) is a medical condition where both testes are absent at birth. Within a few weeks of fertilization, the embryo develops rudimentary sex organs, which are crucial to the development of the reproductive system.
If the testes are lost between eight and 10 weeks, the baby will have ambiguous genitalia when it is born. However, if the testes are lost after 14 weeks, the baby will have a normal male reproductive system, other than the absence of testes.
Individuals with this condition have a 46,XY karyotype.
Signs include an empty scrotum and lack of secondary sex characteristics.
Tests include testosterone levels (low); follicle stimulating hormone and luteinizing hormone levels (elevated); X,Y karyotype; ultrasound or magnetic resonance imaging showing absent gonadal tissue; bone density (low); anti-Mullerian hormone levels (low); surgical exploration for evidence of male gonadal tissue.
Treatment
Treatment includes androgen (male hormone) supplementation, testicular prosthetic implantation, and psychological support.
