Cryptorchidism - Causes, Symptoms, and Treatment

Introduction

Cryptorchidism is a birth defect that causes the absence of one or more testicles. This happens when the testicle has failed to move or descend to the scrotum. The right side is commonly affected. About 30% of premature babies and 3% of full-term babies have one or more undescended testis. It commonly affects the right testicle. A window period of six months may be given for the testicle to descend. If it does not descend by then, surgical intervention is needed.

The testicle has a certain path of descent and can be located anywhere on this path. The path of descent involves retroperitoneal abdomen in the inguinal ring, inguinal canal, ectopic from the path of descent, dysgenetic, hypoplastic, missing or absent, and unilateral. The undescended testicle presented in the inguinal canal can be palpated. In some cases, the testicle may be located in the abdomen or nonexistent.

Undescended testicles lead to complications such as testicular torsion, reduced fertility in bilateral cases, increased testicular germ cell tumor, psychological issues, and inguinal hernias. Individuals with unilateral undescended testis have a 10% infertility rate. Cryptorchidism impairs Leydig cell function and Sertoli cell function.

What Is the Etiology of Cryptorchidism?

A hypothalamic-pituitary-gonadal axis is responsible for the normal descent of the testis. Birth weight and family history are major risk factors for undescended testis. It is also believed that cryptorchid testes are associated with a missing appendix testis. Incidence is high in cases where it is located proximal to the external ring. A full-term defect is an idiopathic birth defect. Genetics, maternal and environmental factors disrupt the hormones that help develop and descend the testis.

The risk factors include:

1. Gestational age of infants.

2. Premature infants are born before the descent of the testis.

3. Decreased placental weight.

4. Pesticides.

5. Maternal exposure to DES (Diethylstilbestrol).

6. Maternal diabetes.

7. Maternal obesity.

8. Chemical endocrine disruptors.

9. Consumption of alcohol during pregnancy.

10. Cigarette smoking during pregnancy.

11. Use of cosmetics.

12. Family history.

13. Phthalate exposure.

14. Ibuprofen.

15. Preeclampsia (it is a pregnancy complication leading to high blood pressure).

16. Congenital anomalies like Prader-Willi syndrome, down syndrome, and Noonan syndrome.

17. Invitro fertilization.

18. Persistent Mullerian duct syndrome.

What Is the Epidemiology of Cryptorchidism?

In premature babies, the prevalence of cryptorchidism is 30%. There is a seven percent chance of siblings being affected. The prevalence rate ranges from 4% to 5% at birth and 1% to 1.5% up to the age of three, and 1% to 2.5% up to the age of nine months. The prevalence of affected fathers passing on the defect is 1.5% to 4%, and affected brothers have a prevalence of 6%. Studies have shown that there may be an association between cryptorchidism with autism.

What Is the Pathophysiology of Cryptorchidism?

Temperature plays a role in reducing the function of cryptorchid testes. In addition, transient hormone deficiency causes reduced development of spermatogenic tissues, which leads to impaired testicular descent.

What Are the Signs and Symptoms?

The signs and symptoms involve:

• Psychological Issues: Boys with cryptorchidism are pre-homosexual, effeminate, or gender-disordered. The boys may have issues with self-respect and self-image. Surgical intervention is helpful.

• Infertility: Even after surgical correction, men with cryptorchidism have infertility. Individuals with unilateral cryptorchid testicles have a 10% chance of developing infertility and a 38% chance of developing infertility in cases of bilateral cryptorchidism, even after orchiopexy. This happened in untreated cryptorchidism due to the degeneration of spermatogenic tissue and decreased spermatogonia counts.

• Cancer: If orchiopexy is performed before puberty, then the risk of testicular cancer is three times and if performed after puberty is five to six times. Seminoma is the most common type of testicular cancer in cryptorchidism. Seminomas occur around the age of 14 to 45 years. 30% of the seminoma cases are seen post orchiopexy. Early detection can help in successful treatment, and boys need counsel on how to self-examine, which can help in early detection.

What Are the Complications?

These complications are caused due to the abnormal location of the undescended testicle:

1. Testicular Torsion: Testicular torsion occurs when the tissues around the testis are loosely attached, which causes rotation of the testis. The spermatic cord is responsible for transporting blood to the scrotum, and testicular torsion causes the twisting of the spermatic cord to lose blood flow. Testicular torsion can be seen in cases before birth and requires emergency treatment due to blood loss. In addition, there may be permanent damage to the testis, which may have to be surgically removed. Testicular torsion is seen ten times more in individuals with cryptorchidism.

2. Trauma: The location of the testicle near the groin experience excessive pressure from the pudic bone and undergo damage.

3. Inguinal Hernia: It is a condition when the portion of the intestines gets pushed through towards the groin because of the loose opening between the abdomen and the inguinal canal.

What Is the Treatment for Cryptorchidism?

Treatment modalities involve:

1) Medical Approach:

Cases of cryptorchidism associated with Prader-Willi syndrome are treated with hormones as suggested by the American pediatric association guidelines. Administration of human chorionic gonadotropin as a treatment for cryptorchidism to avoid general anesthesia with children having low muscle tone and respiratory compromise. Human chorionic gonadotropin is the common hormone administered and reported a success rate of 5% to 50%. The therapy helps stimulate the growth of the small penis and shows the response in Leydig cell function.

2) Surgery:

Surgery is the treatment of choice in cases of age groups between 6 and eighteen months. Studies have shown that earlier surgery can help optimize testicular growth and fertility. The longer the surgery is delayed, there is greater germ cell loss and loss of fertility. Individuals with bilateral undescended testis who have undergone orchidopexies are azoospermic and infertile.

Orchiopexy:

For Palpable Cryptorchidism,

• An incision on the scrotum (high or high edge), scrotal raphe (medium), or groin is made. The cord or the testis is approached first. The cremaster muscles are divided while approaching the testis first. The posterior approach separates the hernia sac from the vas and testicular vessels.

For Nonpalpable Cryptorchidism,

• Laparoscopic orchiopexy is performed under anesthesia.

Conclusion

Cryptorchidism is a birth defect that prevents one or more testicles from the scrotum. It is commonly seen in premature babies, and the right testicle is usually affected. It involves risks such as testicular cancer and male infertility. The treatment of choice is surgical orchiopexy.