Anorchism is the medical condition where there is a unilateral or bilateral absence of the testes. This condition may be present as a congenital anomaly (present at birth) or due to secondary factors such as trauma or castration.
Bilateral absence of testes or anorchism
What Happens When a Male Has Anorchism?
The testes serve as an important part of the male body, especially when it comes to the regulation of secondary sexual characteristics. The testes house the cells that produce androgens, and facilitate the production of sperm. With this organ absent, we can expect dysfunctions in the production or sperm and androgens
The absence of the testes can be classified into three general events:
- Emergence of an ambiguous genitalia
- Lack of secondary sexual characteristics
- Impaired sperm production
This happens when the testes did not develop while the fetus is in the womb. Sex organs begin to develop inside the womb at the eight week of pregnancy. Between the eight and tenth week, if the testes are lost the result is an ambiguous genitalia. This means in males, the penis appears smaller than the normal size. In some cases the reproductive organ appears to have both male and female attributes.
Lack of secondary sexual characteristics
The testes produce male hormones called androgens. These hormones are responsible for making the male body distinct from the females. These distinctive attributes are called secondary sex characteristics. Secondary sex characteristics include growth of hair, deepening of the voice, broadening of the shoulder, development of the bones and muscles, and thickening of the skin.
In the absence of the testes, androgens would not be produced, and males would not achieve the secondary sex characteristics stated above. As a result males with anarchism appear smaller with less muscular built, there is absence of hair in the face, pubic area, arms and thighs, voice may sound child-like, and they are more likely to assume a body appearance that is thin and linear instead of the ectomorphic type with broader shoulders and narrow hips.
Impaired sperm production
The testis is also the structure which produces sperm cells. Within the testes is the structure called seminiferous tubules, this structure is responsible for sperm production. If the anorchia is bilateral, (both testes are absent), then sperm production is not entirely possible, but if it is unilateral (only one is absent) then sperm can still be produced.
Types of Anorchism
Anorchism can be classified according to the cause and presentation.
According to cause:
- Primary anarchism – which can be attributed to defects present at birth or while the fetus is still inside the womb.
- Secondary anarchism – loss of one or both of the testes as a result of castration, trauma, genial mutilation, infection, surgery or other underlying disease
According to presentation
- Unilateral- only one testes is absent
- Bilateral-both testes are absent
Genes are seen to primarily cause anarchism, although genetics is a strong contender, the exact cause of the condition is yet to be known. Aside from genetics, other disease conditions are also seen to cause anorchism. These are the following:
Undescended testicle as a cause of Anorchism
- Vanishing testes syndrome
- Swyer syndrome
- Both or one of the testes are absent
- Failure to achieve puberty
- No evidence of secondary sexually characters
Secondary sex characteristics are not evident which can be seen through the following:
- lack of hair in the pubis, arms, legs, chest, and face
- voice that remains to be child like
- thin, non-muscular body
- more fat accumulation than muscle
- non-enlargement or growth of the penis
- uneven waist to hip ratio
- gynecomastia or breast development may be present
Anorchism can be diagnosed through the following procedures:
- Physical examination– to diagnose the condition, the clinician would palpate the scrotum and feel the testes. The physical attributes of the patient is also examined. Here the clinician would look for the presence of secondary sex characteristics. When the patient does not exhibit these attributes, anarchism is suspected.
- Hormonal tests – to further confirm if the patient has anorchism, hormonal tests are also done. Remember that the testis houses the cells that produce male hormones. Without the testes, production of the hormone is not possible. Anarchism is diagnosed when the levels of testosterone are low, and the level of Follicle stimulating hormone and luteinizing hormone are high.
- Magnetic Resonance Imaging (MRI) and Ultrasound- these tests allows the clinician to view the scrotum for the presence or absence of the testes. MRI or ultrasound may show no gonadal tissues or in some cases the presence of just one. Imaging procedures such as MRI and ultrasound confirm the condition.
Males with anorchia are given lifelong supplements of androgens. Since there are no testes to produce the androgens, they are then supplied externally. With hormonal therapy, patients are expected to have improved conditions physically. This includes the development of the penis, development of the muscles and skeletal frame, and lesser fat deposition. Synthetic androgen hormones can be taken orally, or as a gel or cream that can be applied on the skin. Some of the synthetic hormones are given as a transdermal patch, or as an injection.
- Side effects of hormonal therapy – Hormonal supplementations also have certain side effects.
- Oily skin and development of acne. This is because testosterone increases the activity of the sebaceous glands.
- Increase in hematocrit levels. This side effect can be managed by regular venipuncture.
- Worsening of sleep apnea and prostate cancer (pre-existing)
- Thinning of hair
The absence of testes is physically and psychologically traumatic for males. To aid this, testicular prosthesis is surgically inserted in the scrotum, to give revive the normal physical appearance of the male reproductive organ. In some cases, the prosthesis is also able to give hormonal supplementation much like what a real organ would do. Silicone implants are used as prosthesis. Since the treatment involves surgery, rigorous counseling of the effects and success of the treatment is done to the patient.
Complications of testicular prosthesis
- Prothesis extrusion- this happens when the implant extrudes from the scrotum. This usually happens when the incision is made on the scrotum during insertion of the implant.
- Silicone rupture
- Disproportional or incorrect size or shaped prosthesis
The major problem with anorchia is infertility. Since there are no testes, sperm production is not possible. Males may consider the following infertility treatments:
- Intracytoplasmic sperm injection (ICSI)
- Intrauterine Insemination of the sperm
- In Vitro Fertilizaion (IVF)
In Vitro Fertilization to treat infertility brought by Anorchism
If the male cannot produce sperm at all (as in the case of bilateral anorchia), a donor sperm is used.
Complications of Male Infertility Treatments
The primary complication of male infertility treatments is its psychological impact on the couples. The process of infertility treatments can be tedious and success rates can be quite low. The process and the low success rates can be frustrating for both the male and female. This is why counseling and education on the procedure is done in order to prepare the couple psychologically.