Congenital anorchia

Anorchia, is a medical condition where both testes are absent at birth. Individuals with this condition have a 46,XY chromosome constellation.

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.

• Lack of secondary sex characteristics

• Empty scrotum

Tests and findings include:

• Low testosterone levels
• Elevated follicle stimulating hormone and luteinizing hormone levels
• X,Y karyotype
• Low anti-Mullerian hormone levels

• Imaging showing absent gonadal tissue

• Imaging showing absent gonadal tissue

• Low bone density

• Surgical exploration for evidence of male gonadal tissue

Treatment includes psychological support.

Treatment includes androgen (male hormone) supplementation.

Treatment includes testicular prosthetic implantation.

de:Anorchie

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