Anorchia is a rare condition where men are born without testicles, resulting in a lack of male secondary sex characteristics. It can be caused by genetic mutations or hormonal imbalances during fetal development. Treatment involves supplemental androgens and scrotal implants, but there is no cure for infertility.
Anorchia is a very rare congenital condition in men where patients are born without testicles. Patients will develop as expected, although the scrotum may appear unusually small, but the testicles cannot descend because they do not exist, and at puberty the patient does not begin producing hormones associated with the development of male secondary sex characteristics. Patients with anorchia should be examined carefully to confirm a diagnosis and differentiate it from cryptorchidism, where one or both testicles are present but not descending.
The causes of this condition are not known, although they can be caused by spontaneous genetic mutations or linked to hormonal imbalances during fetal development. During embryonic development, there are several stages in which the testicles may not develop. Before eight weeks, failure of the testicles to develop will result in the development of female genitalia, even though the patient will have XY chromosomes. Problems with testicular development between eight and 12 weeks can result in an intersex baby, a baby with mixed genitalia, and in embryos between 12 and 14 weeks, sometimes the testicles are simply lost, resulting in anorchia.
Patients with anorchia who wish to develop secondary sexual characteristics associated with men will need to take supplemental androgens, stimulating puberty with the assistance of external hormones. Some patients also express dissatisfaction with the size of their scrotums, because there are no testicles to fill the scrotal sac and they may require implants to change the appearance of their genitals. Psychological support may also be needed for some patients, as some people find the diagnosis disturbing and may want help working through it.
Having anorchia is not life threatening or particularly dangerous. The lack of androgens from the testicles 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 choose to wait for treatment or to forgo treatment, a choice they can discuss with their doctors. An endocrinologist can discuss various treatment options with the patient, including waiting for treatment until the patient feels more ready to make a decision.
Not having testicles will cause infertility, and there are no infertility treatments for men with the 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 may consider sperm donation or adoption as options. As this condition does not appear to be inherited, sperm donations from family members would not create a risk of anorchia in the child.
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