Congenital Absence of the Testes
Also known as: Anorchia
Congenital absence of the testes (anorchia) is a very rare condition where the testes are absent when a baby is born. The testes are two egg-shaped male reproductive organs located in the scrotum (a sack or pouch that contains the testes). The testes produce sperm and the male hormone testosterone.
Last updated September 2016 by Dr P Hindmarsh, Professor of Paediatric Endocrinology and Divisional Clinical Director for Paediatrics and Adolescents, UCLH Developmental Endocrinology Research Group, UCL Institute of Child Health, London, UK.
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Although the testes are absent, the male external genitalia, such as the penis and scrotum, is otherwise normal. This suggests that there was normal testicular function in early fetal life (when the baby was developing in the womb) and normal male differentiation took place (the process by which the developing baby’s sex is determined). The testes are presumed, therefore, to have regressed (development stopped) for some reason. Torsion of the testes (twisting) in fetal life has been suggested as a cause.
Boys may also present with underdeveloped non-functioning testes, which can be felt in the scrotum. This is quite a different condition from congenital absence of the testes and it is called bilateral undescended testes.
No problem with the genes that regulate male development has been documented so far in those affected. Ischaemic necrosis (tissue deterioration due to poor blood supply) during descent of the testes is thought to be the more common cause for anorchia. This occurs during testicular migration when the testis is mobile and vulnerable to torsion (twisting).
Affected boys may be seen by a doctor because parents notice that the bag in which the testes sit (the scrotum) is poorly developed. Sometimes, another problem like the presence of a hernia may mean that an absence of the testes is noticed.
A number of blood tests are usually conducted at this stage to show that there is no male sex hormone production from the testes.
Testes may be absent from the scrotum but may be present within the abdomen which is where they come from in fetal life. It is important to look for a male sex hormone (testosterone) response. If present, the testicular tissue needs to be found because of the potential for development of cancer in this tissue (malignancy).
At the same time a blood sample is often taken to make absolutely sure that the genetic make-up of the individual is male. Some babies are affected by a chromosomal condition that causes problems with sexual development and gender differentiation.
In the long term, the boys will need male sex hormone (testosterone) replacement to develop during puberty. A very low dose of testosterone could be given at around ten years of age, and this would be gradually increased. This would in part mimic the changes that occur in boys without the condition.
In adulthood, testosterone preparations can be used as capsules, intramuscular injections, skin patches, gel or cream. Testicular prostheses (an implant to mimic the shape of a normal testicle) should be considered before puberty to overcome any anxiety related with congenital absence of the testes. People affected by the condition are infertile – they would need surrogate sperm donation to start a family.
Anorchidism Support Group
The Group, established in 1995, offers support to individuals and families of boys with congenital or acquired absence of the testes, or with undescended testes. It provides a network of affected families in the UK and abroad.
Group details last updated September 2016.