Anorchia is a congenital (present from birth) absence of both testes .
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.
Signs and tests
Signs include:
Empty scrotum Lack of secondary sex characteristics Tests include:
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
Treatment includes androgen (male hormone) supplementation, testicular prosthetic implantation, and psychological support.
Expectations (prognosis)
Prognosis is good with treatment.
Complications
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.