Congenital anorchia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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

Natural History, Complications, and Prognosis

Natural History

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.

Physical Examination

Appearance of the Patient

• Lack of secondary sex characteristics

Genitals

• Empty scrotum

Laboratory Findings

Electrolyte and Biomarker Studies

Tests include:

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

MRI

• Imaging showing absent gonadal tissue

Ultrasound

• Imaging showing absent gonadal tissue

Other Diagnostic Studies

• Low bone density
• 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)