Congenital anorchia

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Overview

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. In the human male, if these fail to develop within eight weeks, the baby will have female genitalia (see Swyer syndrome). If the testes are lost between eight and 10 weeks, the baby will have ambiguous genitalia when it's 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 chromosome constellation.

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 includes androgen (male hormone) supplementation, testicular prosthetic implantation, and psychological support.

Other names for anorchia include

• congenital anorchia
• vanishing testes syndrome
• vanishing testes
• empty scrotum
• testicular regression syndrome (TRS)