Anorchia is a very rare congenital condition in men where patients are born with no testes. Patients will develop as expected, although the scrotum may seem unusually small, but the testicles fail to descend because they do not exist and in puberty, the patient does not start producing hormones associated with the development of male secondary sex characteristics. Patients with anorchia must be examined carefully to confirm a diagnosis and differentiate it from cryptorchidism, where one or both testes are present, but do not descend.
The causes of this condition are not known, although they may be caused by spontaneous genetic mutations or linked to hormone imbalances during fetal development. During embryonic development, there are several stages where testicles may fail to develop. Prior to eight weeks, the lack of development of testicles will result in the development of female genitalia, although the patient will have XY chromosomes. Problems with testicular development between eight and 12 weeks can result in an intersex child, a child with mixed genitalia, and in embryos between 12 and 14 weeks, sometimes the testicles are simply lost, resulting in anorchia.
Patients with anorchia who want to develop secondary sexual characteristics associated with men will need to take supplemental androgen, stimulating puberty with the assistance of external hormones. Some patients also express dissatisfaction with the size of their scrotums, because no testes are present to fill the scrotal sac, and they may request implants to change the appearance of their genitals. Psychological support may also be needed for some patients, as some people find the diagnosis unsettling and may want help processing it.
Having anorchia is not life threatening or particularly dangerous. The lack of androgen from the testes will mean that the patient does not develop thicker body hair, a deeper voice, and other characteristics associated with puberty in men. Some patients may opt to wait for treatment or to forgo treatment, a choice they can discuss with their doctors. An endocrinologist can talk about various treatment options with the patient, including waiting on treatment until the patient feels more ready to make a decision.
Not having testes will cause infertility and there are no treatments for infertility in men with this condition, as it is impossible for them to produce sperm of any kind. Men with anorchia who are interested in having children with their partners can consider sperm donation or adoption as options. Because this condition does not appear to be inherited, sperm donations from family members would not create a risk of anorchia in the child.