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Cryptorchidism

Disease Details

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Description: Cryptorchidism is a condition where one or both of a male child's testes fail to descend into the scrotum.
Type: Cryptorchidism, also known as undescended testes, primarily occurs sporadically and is typically not inherited in a clear-cut genetic manner. However, in some cases, familial clustering suggests multifactorial inheritance with both genetic and environmental factors playing a role. There is no single, defined mode of genetic transmission for cryptorchidism.
Signs And Symptoms: Cryptorchidism, or undescended testicles, primarily presents with these signs and symptoms:

- In newborns, one or both testicles are not palpable in the scrotum.
- Absence of the testicle in the typical scrotal position during a physical examination.
- Occasionally, an empty scrotum or with an underdeveloped scrotum on one or both sides.

If untreated, it can lead to complications like infertility, testicular cancer, and inguinal hernias. Early diagnosis and treatment are crucial.
Prognosis: Cryptorchidism, or undescended testicles, has a generally positive prognosis if treated early. Treatment typically involves hormonal therapy or surgery, such as orchiopexy, usually performed before the child is 18 months old. Early intervention reduces the risk of complications, such as infertility, testicular cancer, and inguinal hernia. If untreated, the prognosis worsens due to increased risks of these complications.
Onset: Cryptorchidism, also known as undescended testes, is a condition typically noted at birth. In most cases, it is identified during a neonatal physical examination. If the condition does not resolve within the first few months of life, treatment is usually recommended to avoid future complications.
Prevalence: Cryptorchidism, or undescended testes, has a prevalence of about 3% to 4% in full-term newborn males. The rate is higher in premature infants, reaching up to 30%. The condition often resolves on its own within the first few months of life, but if the testes remain undescended by 6 months, medical evaluation and treatment are recommended.
Epidemiology: Cryptorchidism, commonly known as undescended testicles, is a condition where one or both of the testes fail to move into the scrotum before birth.

Epidemiology:
- It is one of the most common congenital abnormalities in male infants.
- The prevalence at birth ranges from about 1% to 4.6% in full-term male neonates and is higher in preterm infants, up to around 30%.
- By the age of one year, the prevalence decreases to about 1% due to spontaneous descent of the testes within the first few months of life.
- Cryptorchidism is more common in those with a family history of the condition, low birth weight, prematurity, and certain genetic conditions.

Nan (Not applicable or no related information):
- There is no relevant information regarding "nan" in the context of cryptorchidism. If "nan" refers to "nanotechnology" or "nanomaterials," it is not typically associated with the disease or its treatment.
Intractability: Cryptorchidism, or undescended testicles, is not considered intractable. In many cases, the condition can be corrected with surgical intervention, known as orchiopexy, usually performed during infancy or early childhood. Early treatment helps to reduce the risks of complications, such as infertility and testicular cancer.
Disease Severity: Cryptorchidism, or undescended testicle(s), is a condition where one or both testicles fail to move into the scrotum before birth. It's relatively common in premature infants but less so in full-term babies. The severity can vary:

- **Mild**: If the undescended testicle is close to the scrotum and can be easily moved into place, it is typically a mild form and often resolves on its own within the first few months of life.
- **Moderate to Severe**: If the testicle is located higher in the groin or abdomen, it may require medical intervention, such as hormone therapy or surgery (orchidopexy).

Failure to treat cryptorchidism can lead to complications like infertility, increased risk of testicular cancer, and inguinal hernia. Therefore, timely diagnosis and treatment are important.
Healthcare Professionals: Disease Ontology ID - DOID:11383
Pathophysiology: At least one contributing mechanism for reduced spermatogenesis in cryptorchid testes is temperature. The temperature of testes in the scrotum is at least a few degrees cooler than in the abdomen. Animal experiments in the middle of the 20th century suggested that raising the temperature could damage fertility. Some circumstantial evidence suggests tight underwear and other practices that raise the testicular temperature for prolonged periods can be associated with lower sperm counts. Nevertheless, research in recent decades suggests that the issue of fertility is more complex than a simple matter of temperature. Subtle or transient hormone deficiencies or other factors that lead to a lack of descent also may impair the development of spermatogenic tissue.
The inhibition of spermatogenesis by ordinary intra-abdominal temperature is so potent that continual suspension of normal testes tightly against the inguinal ring at the top of the scrotum by means of special "suspensory briefs" has been researched as a method of male contraception, and was referred to as "artificial cryptorchidism" by one report.
An additional factor contributing to infertility is the high rate of anomalies of the epididymis in boys with cryptorchidism (over 90% in some studies). Even after orchiopexy, these may also affect sperm maturation and motility at an older age.
Carrier Status: Cryptorchidism, also known as undescended testicles, is a condition in which one or both of the testes fail to move into the scrotum before birth. As for carrier status, nan (not applicable). Cryptorchidism is not typically inherited in a way that involves carriers like some genetic disorders. Rather, it is often influenced by a combination of genetic, environmental, and hormonal factors.
Mechanism: Cryptorchidism, or undescended testis, occurs when one or both testes fail to descend from the abdomen into the scrotum during fetal development.

**Mechanism:**
Normally, testicular descent happens in two phases:
1. **Transabdominal Phase (8-15 weeks of gestation)**: Under the influence of insulin-like 3 (INSL3) hormone and Müllerian-inhibiting substance (MIS), the testes move from the abdominal position near the kidneys to the inguinal region.
2. **Inguinoscrotal Phase (25-35 weeks of gestation)**: Propelled by the action of androgens, particularly testosterone, the testes move from the inguinal canal into the scrotum.

In cryptorchidism, disruptions in these phases prevent normal testicular descent.

**Molecular Mechanisms:**
1. **Genetic Factors**: Mutations or variations in genes like INSL3, its receptor LGR8, and others involved in hormone pathways can contribute to cryptorchidism.

2. **Hormonal Imbalance**: Inadequate levels of INSL3 or testosterone can result in insufficient signaling for testicular descent. Additionally, mutations in androgen receptors can hinder normal responsiveness to these hormones.

3. **Environmental Factors**: Exposure to endocrine-disrupting chemicals (EDCs) during pregnancy can interfere with hormonal signaling and normal testicular descent.

4. **Gubernaculum Abnormalities**: This cord-like structure guides the testes during descent. Defects in gubernaculum development or attachment can disrupt the process.

5. **Neural Factors**: Abnormal genitofemoral nerve function or signaling can impair the migration of testes.

Understanding these mechanisms helps guide the diagnosis and treatment of cryptorchidism, potentially reducing the risk of complications such as infertility and testicular cancer.
Treatment: The primary management of cryptorchidism is watchful waiting, due to the high likelihood of self-resolution. Where this fails, orchiopexy is effective if inguinal testes have not descended after 4–6 months. Surgery is often performed by a pediatric urologist or pediatric surgeon, but in many communities still by a general urologist or surgeon.
When the undescended testis is in the inguinal canal, hormonal therapy is sometimes attempted and very occasionally successful. The most commonly used hormone therapy is human chorionic gonadotropin (hCG). A series of hCG injections (10 injections over five weeks is common) is given and the status of the testis/testes is reassessed at the end. Although many trials have been published, the reported success rates range widely, from roughly 5% to 50%, probably reflecting the varying criteria for distinguishing retractile testes from low inguinal testes. Hormone treatment does have the occasional incidental benefits of allowing confirmation of Leydig cell responsiveness (proven by a rise of the testosterone by the end of the injections) or inducing additional growth of a small penis (via the testosterone rise). Some surgeons have reported facilitation of surgery, perhaps by enhancing the size, vascularity, or healing of the tissue. A newer hormonal intervention used in Europe is the use of GnRH analogs such as nafarelin or buserelin; the success rates and putative mechanism of action are similar to hCG, but some surgeons have combined the two treatments and reported higher descent rates. Limited evidence suggests that germ cell count is slightly better after hormone treatment; whether this translates into better sperm counts and fertility rates at maturity has not been established. The cost of either type of hormone treatment is less than that of surgery and the chance of complications at appropriate doses is minimal. Nevertheless, despite the potential advantages of a trial of hormonal therapy, many surgeons do not consider the success rates high enough to be worth the trouble, since the surgery itself is usually simple and uncomplicated.
In cases where the testes are identified preoperatively in the inguinal canal, orchiopexy is often performed as an outpatient and has a very low complication rate. An incision is made over the inguinal canal. The testis with accompanying cord structure and blood supply is exposed, partially separated from the surrounding tissues ("mobilized"), and brought into the scrotum. It is sutured to the scrotal tissue or enclosed in a "subdartos pouch". The associated passage back into the inguinal canal, an inguinal hernia, is closed to prevent reascent.
In patients with intra-abdominal maldescended testis, laparoscopy is useful to see for oneself the pelvic structures, position of the testis and decide upon surgery (single or staged procedure ).
Surgery becomes more complicated if the blood supply is not ample and elastic enough to be stretched into the scrotum. In these cases, the supply may be divided, some vessels sacrificed with expectation of adequate collateral circulation. In the worst case, the testis must be "autotransplanted" into the scrotum, with all connecting blood vessels cut and reconnected (anastomosed).
When the testis is in the abdomen, the first stage of surgery is exploration to locate it, assess its viability, and determine the safest way to maintain or establish the blood supply. Multistage surgeries, or autotransplantation and anastomosis, are more often necessary in these situations. Just as often, intra-abdominal exploration discovers that the testis is nonexistent ("vanished"), or dysplastic and not salvageable.
The principal major complication of all types of orchiopexy is a loss of the blood supply to the testis, resulting in loss of the testis due to ischemic atrophy or fibrosis.
Compassionate Use Treatment: Cryptorchidism, the condition where one or both testicles fail to descend into the scrotum, typically requires surgical intervention or hormonal therapy. Currently, there are no established compassionate use treatments specific to cryptorchidism. The primary standard treatments remain:

1. **Orchidopexy**: Surgical correction to move the undescended testicle(s) into the scrotum.
2. **Hormonal Therapy**: Human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH) may sometimes be used to induce testicular descent.

Experimental approaches and off-label use of treatments are limited due to the effectiveness of surgical and hormonal therapies. However, some areas of ongoing research and interest include:

1. **Gene Therapy**: Investigating genetic factors and potential interventions at a molecular level, though this is still in early research stages.
2. **Minimally Invasive Surgery**: Enhancements in laparoscopic techniques for improved outcomes and recovery times.
3. **Novel Hormonal Agents**: Studies on different hormonal compounds or delivery methods that might increase efficacy or reduce side effects compared to traditional hormone therapies.

These experimental treatments are not yet part of standard clinical practice and are typically explored within clinical trials.
Lifestyle Recommendations: Lifestyle recommendations for cryptorchidism are generally focused on managing the condition in children, as it primarily affects male infants. Here are some recommendations:

1. **Regular Pediatric Check-ups**: Ensure frequent visits to a pediatrician to monitor the condition and determine if intervention is needed.

2. **Surgery**: If the testicle does not descend naturally by 6 months to 1 year, surgery (orchiopexy) is often recommended. Timely surgical intervention is crucial to reduce the risk of complications.

3. **Avoiding Environmental Risk Factors**: Limit a child's exposure to certain chemicals that may interfere with hormonal processes, such as pesticides, phthalates in plastics, and certain medications.

4. **Healthy Diet and Weight Management**: Maintaining a healthy diet and a normal weight range can contribute to the overall well-being of the child.

5. **Parental Awareness**: Educate parents about the condition, its implications, and the importance of monitoring and treatment.

Early diagnosis and appropriate treatment are key to avoiding complications such as infertility or increased risk of testicular cancer later in life.
Medication: Cryptorchidism, also known as undescended testicle, generally does not have a standard medication treatment. The primary approaches for managing this condition are:

1. Observation: In some cases, particularly in infants, the condition may resolve on its own within the first few months of life.
2. Hormonal Therapy: Hormone treatments, such as human chorionic gonadotropin (hCG), may be attempted to induce the descent of the testicle, but this is less commonly used and has variable success rates.
3. Surgical Intervention: Orchiopexy is the standard surgical procedure to reposition the undescended testicle into the scrotum. This is typically recommended if the testicle has not descended by 6 to 12 months of age.

Early treatment is advised to reduce the risk of complications such as infertility and testicular cancer.
Repurposable Drugs: For cryptorchidism, there are no widely accepted repurposable drugs specifically approved for treatment. The standard treatment options generally include hormonal therapy, such as human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH), and surgical correction via orchiopexy.
Metabolites: Cryptorchidism, the absence of one or both testes from the scrotum, does not have specific metabolites associated with its diagnosis or progression. Metabolic studies are not typically relevant in the clinical assessment or management of this condition. Diagnosis is usually made through physical examination and imaging, with treatment options often involving hormonal therapy or surgical intervention.
Nutraceuticals: There is no established evidence that nutraceuticals can treat or correct cryptorchidism (undescended testicles). The condition typically requires medical or surgical intervention, such as hormone therapy or orchiopexy (surgical repositioning of the testicle). Always consult a healthcare professional for proper diagnosis and treatment options.
Peptides: Cryptorchidism is a condition where one or both testes fail to descend into the scrotum. While peptide-based treatments for cryptorchidism are not the primary therapeutic approach, there has been some research into using peptides, such as gonadotropin-releasing hormone (GnRH) analogs, to stimulate testicular descent. These peptides work by influencing the hormonal milieu that governs testicular movement. However, surgical intervention, specifically orchiopexy, remains the standard and most effective treatment for cryptorchidism.