Absent Testis Syndrome - Causes, Symptoms, Diagnosis, and Treatment

What Is Absent Testis Syndrome?

As the name suggests, absent testis syndrome is characterized by the absence of testicles from the male genital tract. It is a congenital defect and is commonly seen in premature babies. Either one or both of the testicles fail to descend into a pouch-like structure known as the scrotum, or the testicles are missing by birth. Testicles or testes are one of the most crucial organs of the male genital tract. They are responsible for the production of the male sex hormone known as testosterone.

Normally, the testes form in the abdomen during the growth and development of the baby in the womb. Towards the end of pregnancy, these testicles move out of the body into a pouch-like structure known as the scrotum. It is because the testis requires a temperature two to three degrees Celsius lower than the normal body temperature for the formation of sperms. However, the problem arises when the testicles have failed to develop by birth, and the baby is born without the testis.

What Are the Causes of Absent Testis Syndrome?

Absent testis syndrome is a condition in which the testis has failed to form by birth. This condition must not be confused with cryptorchidism, as there is a vast difference between the two. In cryptorchidism, the testicles are present in the abdomen, but they have failed to move into the scrotum. Whereas in absent testis syndrome, the individual lacks testis by birth. The organs that are responsible for the secondary sexual development of an individual start developing in the first few weeks of pregnancy.

The three situations listed below explain the occurrence of absent testis syndrome:

1. If the testes fail to develop before the eighth week of pregnancy, the babies are born with female sex organs.

2. Sometimes, the testes disappear between the eighth and tenth weeks of pregnancy. In such a situation, the baby will show the presence of both male and female sex organs (ambiguous genitals).

3. In some cases, the testes might disappear between twelve and fourteen weeks. In such a situation, the babies have a normal penis and scrotum, but they do not have testis. This condition is known as congenital anorchia or vanishing testis syndrome.

What Are the Signs and Symptoms of Absent Testis Syndrome?

Absent testis syndrome is a rare condition in which the testicles fail to develop by birth. The exact cause of the condition is still unknown. However, some researchers believe that genetic defects (mutations) are the causes of this syndrome. The signs and symptoms of absent testes syndrome are listed below:

• The organs responsible for sexual development in males appear normal before puberty.

• Normally, boys hit puberty between ten to 14 years of age. However, the one who lacks testes due to absent testes syndrome experiences delayed puberty.

• Normally, boys undergo certain changes at the time of puberty, like the growth of hairs in the pubic region, deepening of the voice, and increase in muscle strength. However, the boys who are born without a testis fail to undergo these changes.

What Tests Are Done to Diagnose Absent Testis Syndrome?

Absent testis syndrome is diagnosed on the basis of a blood test and imaging tests. The diagnostic methods have been described below:

1. Blood Test - The doctor might ask the patient to undergo a blood test to check the levels of the following hormones:

   1. Anti-Mullerian Hormone (AMH) - This hormone is made by the reproductive tissues of both males and females. In males, the anti-mullerian hormone does not allow the development of female organs. It promotes the growth and maturation of male sex organs. In this test, a small amount of blood is taken by injecting the needle into the arm of the patient to check the anti-mullerian hormone levels. If the hormone levels are low, the patient shows the presence of both male and female sex organs. This condition is known as ambiguous genitalia and is characteristic of absent testis syndrome.

   2. Follicle-Stimulating Hormone Test - In males, the follicle-stimulating hormone controls the production of sperm. In order to check the levels of this hormone, a blood sample is obtained from the patient. The sample is then examined in the laboratory. Follicle-stimulating hormone levels are low in patients suffering from absent testis syndrome, infertility, and other problems of the testes.

   3. Luteinizing Hormone Test - In males, the luteinizing hormone stimulates the testes to produce testosterone which is required for the formation of sperm. Patients suffering from absent testis syndrome are likely to depict low levels of luteinizing hormone in their blood.

2. Bone Density Test - A bone density test is usually recommended in patients suffering from absent testis syndrome. In this test, the patient is laid on an X-ray table. A large scanning arm moves over the patient to send low-dose X-rays to the body. An X-ray detector is present inside the scan that helps to check the amount of X-rays that are passed into the body. This information is used to produce the images of the scanned part. Bone density will be low in individuals that lack testis. It is because the testicles produce a hormone known as testosterone that maintains bone strength. When the person does not have testis, testosterone is also not produced, resulting in decreased bone density.

How to Manage Absent Testis Syndrome?

Absent testis syndrome is a condition wherein the male reproductive organs, known as the testes, are absent. Such patients suffer from infertility, show low testosterone levels, and are more likely to show delayed pubertal growth. The following treatments are usually recommended in patients with absent testis syndrome:

• Testicular Prosthesis - A testicular prosthesis or an implant is an artificial device that is placed into the scrotum to satisfy the patient. The implant does not work like a normal testis, but it is placed in the body so that the patient does not remain under psychological stress. Testicular prostheses are usually made of rubber and filled with either silicone gel or salt water. Their shape, appearance, and weight resemble that of a normal testis, but they do not function like them. An incision is made in the lower part of the groin to create a pouch for the prostheses. Artificial testicles are placed in the pouch and stitched.

• Testosterone Therapy - People suffering from absent testis syndrome usually lack the hormone testosterone. In order to overcome this problem, testosterone therapy is done in which testosterone is injected into the body. This therapy helps to increase muscle strength, improves the mood of a person, and allows them to develop a more masculine appearance.

• Psychological Support - People suffering from absent testis syndrome also suffer from mental problems. They consider themselves inferior to society and feel depressed, anxious, and lonely. These patients constantly need psychological and emotional support from their parents, relatives, and friends.

Conclusion

Absent testis syndrome is a rare condition and is present by birth. The development of the testis gets completed by the eighth week of pregnancy. However, in absent testis syndrome, the testicles either fail to develop or disappear between the eighth and twelfth weeks. As a result, the baby is born with both male and female sex organs. The treatments include the placement of artificial testes and testosterone therapy. Though the artificial testes do not function like the normal ones, they help the patient overcome the problem of psychological insecurity. Consult the doctor at the earliest to learn more about absent testis syndrome and the treatment options available for it.