Vanishing testes - anorchia; Anorchia; Scrotum - empty (anorchia)
Anorchia is the absence of both testes at birth.
Causes, incidence, and risk factors
In the first several weeks after fertilization, the embyro develops rudimentary sex organs, which are crucial to the development of internal and external genitalia. In the male, if these early testes fail to develop before 8 weeks gestation, the baby will have female genitalia.
If the testes are lost betweeen 8 and 10 weeks, ambiguous genitalia will be seen at birth. This means that elements of both male and female internal and external genitalia will be seen.
However, if the testes are lost after the critical phase of male differentiation between 12 and 14 weeks, the baby will have normal male internal and external genitalia (penis and scrotum), but the testes will be absent. This is known as congenital anorchia, or the “vanishing testes syndrome.”
The specific cause is unknown, but in some cases genetic factors are apparent.
- Normal external genitalia
- Failure to enter puberty at expected time and lack of secondary sex characteristics (growth of penis, body and pubic hair growth, deepening of the voice, and increase in muscle mass)
Signs and tests
- Empty scrotum
- Lack of secondary sex characteristics
- Testosterone levels (low)
- FSH and LH levels (elevated)
- X,Y karyotype
- Ultrasound or MRI showing absent gonadal tissue
- Bone density (low)
- Anti-Mullerian hormone levels (low)
- Sugical exploration to search for evidence of male gonadal tissue
Failure of testosterone to rise after hCG distinguishes anorchia from cryptorchidism.
Treatment includes androgen (male hormone) supplementation, testicular prosthetic implantation, and psychological support.
Prognosis is good with treatment.
Complications include infertility, psychological problems related to gender, and occasional face, neck, or back abnormalities.
Calling your health care provider
Call your health care provider if your male child appears to have extremely small or absent testicles or does not appear to be entering puberty during his early teens.
by Dave R. Roger, M.D.
All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.