What is cryptorchidism

Cryptorchidism also known as undescended testicles is a condition in which one or both of a baby boy’s testicles (testes) have not moved down into their proper place in the scrotum. Cryptorchidism occurs in about 3% of full-term infants and about 30% of premature infants.

As a baby boy grows inside his mother’s womb, his testicles form inside his abdomen and move down (descend) into the scrotum shortly before birth (see Figure 1). But in some cases, that move doesn’t happen, and the baby is born with one or both testicles undescended. The majority of cases are in male babies born prematurely.

About one in 20 boys are born with undescended testes. This number drops to around one in 50 by six months of age because the testes often move into the scrotum during this time without any treatment. In some countries, the prevalence of cryptorchidism is thought to be increasing for unknown reasons. Studies have shown that the prevalence of cryptorchidism varies geographically but it is not clear whether this is due to genetics or environmental factors. (e.g. endocrine disrupters and lifestyle) is unclear.

Cryptorchidism occurs more commonly among patients with congenital disorders of testosterone secretion or action (e.g. Kallmann syndrome- where there is a defect in the development of certain nerve pathways in the brain that help testosterone secretion), abdominal wall defects, neural tube defects, cerebral palsy, and various genetic syndromes including trisomy 18 (three copies of chromosome 18) and Noonan syndrome.

Cryptorchidism can affect one or both testes and approximately 10% of cases are bilateral. For unilateral cases the left testicle is more commonly affected.

In many boys, an undescended testis at birth will move into the scrotum on its own before three months of age and in about half of these babies by the time they’re 6 months old. Around 65% of the testicles will descend by 9 months of age. By the age of one year most will have descended and the prevalence falls to less than one percent which is similar to that seen in adults.

If a testis is not in the scrotum by six months of age, it is unlikely that it will descend by itself and will need to be treated.

Undescended testicles need to be treated because the testicles make and store sperm, and if they don’t descend they could become damaged. This could affect fertility later in life or lead to other medical problems. Research suggests that changes related to fertility occur in the undescended testicle in a child as young as one year of age. Thus it is best to treat the condition surgically before these changes occur. In addition, since spontaneous descent rarely occurs after the child is six months of age, the optimal time for surgical correction is as soon as possible after he is six months of age. Men with a history of undescended testes are at greater risk of infertility, malignancy, trauma and torsion later in life.

Untreated bilateral cryptorchidism results in sterility because the cells involved in the initial stages of spermatogenesis are destroyed by the higher temperature of the pelvic cavity. The chance of testicular cancer is 30–50 times greater in cryptorchid testes. When the testes remain undescended, the condition can be corrected surgically, ideally before 18 months of age.

What if an adult finds he has an undescended testis?

If an adult discovers that he has an undescended testis, moving the testis into the scrotum at this point will not improve fertility. In adult men, an undescended testis is usually removed. Often, if the man is over 40 years of age, nothing is done.

Figure 1. Descent of the testes – the testes develop inside the abdomen in the male fetus and then move down (descend) into the scrotum before or just after birth.

Figure 2. Testis

Why should undescended testes be fixed?

Undescended testes are linked to a range of health problems later in life.

Fertility

The temperature in the scrotum is lower than in the abdomen, and sperm-producing tubes in the testes work better at this cooler temperature. If a testis is exposed to higher temperatures than when it is in the scrotum, it can affect sperm production.

Bringing the testis down into the scrotum between six and 12 months of age can improve fertility later in life. Men born with bilateral (both sides) undescended testes usually have very poor sperm quality, even if they are fixed by surgery.

Cancer

The risk of developing testicular cancer is up to ten times greater than in the general male population. However, it should be noted that testicular cancer is uncommon.

About 9,310 new cases of testicular cancer are diagnosed each year in United States for 2018, mostly in men with an average age at the time of diagnosis of testicular cancer of about 33

Men have a higher chance of testicular cancer even after early placement of the testis into the scrotum. The normally descended testis opposite the undescended one also has a higher chance of developing cancer.

Trauma

When a testis is trapped in an abnormal position it is at higher risk of injury or torsion (twisting and cutting off its blood supply). A testis in the scrotum has more movement and is less likely to be injured in ordinary activity.

Hernia

A hernia sac, which is a lump that appears when tissue breaks through a weakened area of the abdominal wall, almost always happens with an undescended testis. If an operation is done to bring the testis into the scrotum, the hernia is found and fixed at the same time.

Poor self-image

As boys get older, body image becomes more important, especially during teenage years. Abnormal testes can have a negative impact on a boy’s confidence and self-esteem. Placing the testis in the scrotum makes the scrotum look normal.

Prognosis of Undescended Testes (Cryptorchidism)

The majority of cases resolve spontaneously, without any treatment. Medical or surgical correction of the condition is usually successful. About 5% of patients with undescended testicles do not have testicles that can be found at the time of surgery. This is called a vanished or absent testis. If one or both testicles do not descend, a man may be infertile later in life. Men who have an undescended testicle at birth are at higher risk of developing testicular cancer in both testes.

What causes undescended testes?

Undescended testes can be unilateral (one) or bilateral (both), and are often found in babies with hormonal problems. Babies born with Klinefelter’s syndrome, spina bifida and Down syndrome are more likely to have undescended testes. However, for many babies the cause of undescended testes is unknown, although low levels of androgens (male sex hormones) during the prenatal period is suspected to be a common cause.

Risk Factors for Undescended Testes (Cryptorchidism)

Undescended testes may occur for several reasons. While prematurity is a leading cause, other causes may include hormonal disorders, spina bifida, retractile testes (a reflex that causes a testicle to move back and forth from the scrotum to the groin), or testicular absence. The mechanisms responsible for normal testicular descent are not well understood, which therefore makes it difficult to understand the reason why undescended testes occur in some males. There is some genetic component, as one study has concluded that 6% of fathers of males with undescended testes also had the condition.

Can undescended testes be prevented?

Doctors do not know how undescended testes can be prevented.

Undescended Testes (Cryptorchidism) Symptoms

Crytorchidism is usually assymptomatic (no pain or problems urinating) and diagnosed when you or a physician notices an empty scrotum on one or both sides. However, you may also have features of other congenital or chromosomal abnormalities such as hypospadias (abnormal openings of the urethra onto the surface of the penis). Furthermore several other conditions may be associated with the disorder including: Other conditions are commonly associated with cryptorchidism:

• Infertility – Adult males with cryptorchidism may report fertility problems because the testicle is not located in its ideal normal environment for sperm production.
• Poor self image
• Inguinal hernias – Where part of the intestines bulges through a defect in the abdominal wall.
• Trauma – An undescended testicle is at higher risk of injury.
• Cancer – The risk of testicular cancer is 10 times higher for males with undescended testicles than for the general male population. The risk of testicular cancer in both testicles exists regardless of whether corrective surgery is performed.

How is Cryptorchidism Diagnosed?

Doctors usually diagnose cryptorchidism during a physical exam at birth or at a checkup shortly after. Most undescended testicles can be located or “palpated” on exam by the doctor.

In a few boys, the testicle may not be where it can be located or palpated, and may appear to be missing. In some of these cases, the testicle could be inside the abdomen.

Some boys may have retractile testes. This is a normal condition in which the testicles can appear to be outside of the scrotum from time to time, raising the concern of an undescended testicle. The testes usually are in the scrotum, but sometimes temporarily pull back up into the groin. A retractile testicle doesn’t require treatment because it’s a normal condition. But a pediatric specialist might need to do an exam to distinguish it from an undescended testicle.

To determine whether the testicle is present or absent, and to determine the possible cause of the undescended testis, your child’s doctor may want to perform a number of tests. These may include:

• Karyotype (examination of your chromosome make-up),
• An ultrasound of the pelvic structures, and
• A blood test to measure levels of electrolytes, luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, mallerian inhibiting substance (MIS), and adrenal hormones and metabolites (e.g. 17-hydroxyprogesterone). These are all special hormones that play a role in testicular development, descent and function.

What are retractile testes?

Undescended testes should not be confused with retractile testes. Retractile testes are when, on occasion, the muscle attached to the testis (the cremasteric muscle) pulls the testis up into the groin so that it cannot be felt or seen.

If the testis can be moved back down to the scrotum and stays there, then no further treatment is needed. However, these testes need to be observed over time as they may become ‘acquired undescended testes’. Retractile testes can stay higher in the scrotum over the years, but usually move into the normal position by puberty.

What are acquired undescended testes?

When a boy is born with his testes in the scrotum, they can occasionally move back out of the scrotum and into the groin. This is a condition called acquired undescended testes, or acquired cryptorchidism, which can happen between one and 10 years of age.

It is thought to be caused by the spermatic cords that attach each testis to the body not growing at the same pace as the rest of the body. The short spermatic cords slowly pull the testes out of the scrotum and into the groin.

What is an absent testis?

In about one in 20 cases of undescended testes, there is a complete absence of the testis. It is thought that an interrupted blood flow may cause the developing testis to die before birth.

An absent (or vanished) testis can also be associated with other birth defects of the urinary system, such as abnormal blood vessel networks to the vas deferens (the tubes that carry sperm).

Cryptorchidism treatment

If a testicle has not descended on its own by the time a baby is 6 months old, he should be checked by a pediatric specialist and have treatment if the condition is confirmed. This usually involves surgically repositioning the testicle into the scrotum.

Specific treatment for undescended testes will be determined by your child’s physician based on:

• your child’s age, overall health, and medical history
• the extent of the condition
• your child’s tolerance for specific medications, procedures, or therapies
• expectations for the course of the condition
• your opinion or preference

Treatment is necessary for several reasons:

• Being up in the body means the undescended testicle is at a higher temperature than usual (testicles need to be below regular body temperature to produce sperm). The higher temperature may harm the testicle’s development and its ability to make sperm in the future. This could possibly lead to infertility (the inability to father children).
• An undescended testicle is more likely to form a tumor than a normally descended testicle.
• The undescended testicle may be more at risk for injury or testicular torsion.
• An asymmetrical or empty scrotum can cause a boy worry and embarrassment.
• Sometimes boys with undescended testicles develop inguinal hernias.

Undescended testes can be treated in two ways:

1. Orchidopexy (an operation)
2. Hormone injections

Undescended testicle surgery

The most common treatment is an operation called an orchidopexy. This surgery involves finding the testis in the abdomen or higher in the scrotum, then bringing it down into the scrotum. In this procedure, a small cut is made in the groin and the testicle is brought down into the scrotum, then fixed (or “pexed”) in place. Doctors usually do this on an outpatient basis (with no overnight stay in the hospital), and most boys recover fully within a week.

Although rarely used in Australia, in some cases hormone injections can help the testis move down into the scrotum.

When your son has surgery will depend on a number of factors, such as his health and how difficult the procedure might be. Your surgeon will likely recommend doing the surgery when your son is about 6 months old and before he is 12 months old. Early surgical treatment appears to lower the risk of later complications.

In some cases, the testicle might be poorly developed, abnormal or dead tissue. The surgeon will remove this testicular tissue.

If your son also has an inguinal hernia associated with the undescended testicle, the hernia is repaired during the surgery.

Orchiopexy, has a success rate of nearly 100 percent. Fertility for males after surgery with a single undescended testicle is nearly normal. Surgery might reduce the risk of testicular cancer, but does not eliminate it.

After surgery, the surgeon will monitor the testicle to see that it continues to develop, function properly and stay in place. Monitoring might include:

• Physical exams
• Ultrasound exams of the scrotum
• Tests of hormone levels

Most doctors believe that boys who’ve had a single undescended testicle will have normal fertility and testicular function as adults, while those who’ve had two undescended testicles might be more likely to have reduced fertility (65 percent in men with two undescended testicles).

Boys who’ve had undescended testicles should have regular follow-up appointments with a urologist to make sure that no problems develop.

All boys — even those whose testicles have properly descended — should learn how to do a testicular self-exam when they’re teens so that they can find any lumps or bumps that might be early signs of medical problems.

Are there any complications with surgery?

Wound infection or bleeding may happen, as with any operation. It is possible to injure the delicate testicular blood vessels or the vas deferens. Rarely, the testis does not reach the scrotum after the first surgery and a second surgery is needed.

Hormone treatment

Hormone treatment involves the injection of human chorionic gonadotropin (hCG), which helps the testes make male hormones. Hormone injections work best if the testis is already very close to the scrotum. This hormone could cause the testicle to move to your son’s scrotum. Hormone treatment is not usually recommended because it is much less effective than surgery.

Lifestyle and home remedies

Even after corrective surgery, it’s important to check the condition of the testicles to ensure they develop normally. You can help your son by being aware of the development of his body. Check the position of his testicles regularly during diaper changes and baths.

When your son is about to reach puberty and you’re talking about what physical changes to expect, explain how he can check his testicles himself. Self-examination of testicles will be an important skill for early detection of possible tumors.

Why must boys be told if they had undescended testes at birth?

Boys with undescended testes have a higher chance of reproductive health problems later in life.

Regular testicular self-examination is recommended for men born with undescended testes, especially to check for lumps or swellings that could be a sign of testicular cancer.

Coping and support

If your son doesn’t have one or both testicles, he might be sensitive about his appearance. He might have anxieties about looking different from friends or classmates, especially if he has to undress in front of others in a locker room. The following strategies might help him cope:

• Teach your son the right words to use when talking about the scrotum and testicles.
• Explain that there are usually two testicles in the scrotum. If he’s missing one or both, explain what that means and that he’s still a healthy boy.
• Remind him that he’s not ill or in danger of illness.
• Talk to him about whether a testicular prosthesis is a good option for him.
• Help him practice a response if he’s teased or asked about the condition.
• Buy him loosefitting boxer shorts and swim trunks that might make the condition less noticeable when changing clothes and playing sports.
• Be aware of signs of worry or embarrassment, such as not participating in sports that he’d normally enjoy.