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Cryptorchism

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Description: Cryptorchidism is a condition where one or both of a male infant's testes fail to descend into the scrotum at birth.
Type: Cryptorchidism is a congenital condition where one or both testes fail to descend into the scrotum. It is predominantly a multifactorial trait, involving both genetic and environmental factors, rather than following a simple Mendelian pattern of inheritance. Though no single genetic transmission pattern is definitive, familial cases suggest that a combination of genetic predispositions and environmental triggers may be involved.
Signs And Symptoms: Signs and symptoms of cryptorchidism (undescended testicle) include:

- Absence of one or both testicles in the scrotum
- Retractile testicle that moves back and forth between the scrotum and groin
- Asymmetrical or non-uniform appearance of the scrotum
- In some cases, there might be an underdeveloped scrotum on one or both sides

If you observe these signs, it is important to consult a healthcare professional for proper diagnosis and treatment.
Prognosis: Cryptorchidism, commonly known as undescended testicles, typically has a good prognosis if diagnosed and treated early. If left untreated, it can lead to complications such as infertility, testicular cancer, and inguinal hernia. Early surgical intervention, usually performed between six months to one year of age, can significantly reduce these risks and lead to normal testicular function in most cases.
Onset: Cryptorchidism, also known as undescended testicle, typically becomes apparent at birth or shortly thereafter. It refers to a condition where one or both of the testes fail to descend into the scrotum. If not treated early in childhood, it may result in complications like infertility or increased risk of testicular cancer.
Prevalence: Cryptorchidism, also known as undescended testicle(s), is a common congenital condition affecting male infants. The prevalence of cryptorchidism differs by age and population:

- At birth: approximately 2-5% of full-term male infants.
- At 1 year of age: around 1-2%, as some testicles descend spontaneously within the first few months.
- Premature infants: much higher, ranging from 10-30%, due to less time for testicles to descend before birth.

Early diagnosis and, if necessary, treatment are recommended to reduce the risk of complications such as infertility or testicular cancer.
Epidemiology: Cryptorchidism, or undescended testis, is a common congenital condition where one or both testes fail to descend into the scrotum.

**Epidemiology:**
1. **Prevalence:** It affects approximately 1-4% of full-term male newborns and up to 30% of premature male infants.
2. **Later Childhood:** By age one, the prevalence decreases to around 1-2%, as many testes descend spontaneously within the first few months of life.
3. **Risk Factors:** Higher rates are observed in preterm infants, those with low birth weight, and conditions such as Down syndrome and Klinefelter syndrome. Maternal risk factors include diabetes, obesity, and exposure to certain medications or chemicals during pregnancy.

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Intractability: Cryptorchidism, also known as undescended testicles, is generally not considered intractable. In many cases, the condition can be effectively treated with hormonal therapy or surgical intervention, such as orchiopexy, to reposition the undescended testicle(s) into the scrotum. Early treatment is typically recommended to reduce the risk of complications such as infertility or testicular cancer.
Disease Severity: Cryptorchidism, also known as undescended testicle(s), can range in severity based on factors like the location of the undescended testicle and the presence of symptoms. If untreated, complications can include infertility and an increased risk of testicular cancer. Timely medical intervention is crucial to manage the condition effectively.
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 testicle(s), is a condition where one or both of the testes fail to descend into the scrotum. This condition does not involve carrier status as it is not typically inherited in a pattern requiring a carrier. Its causes can be multifactorial, including genetic, hormonal, and environmental factors.
Mechanism: Cryptorchidism, also known as undescended testes, is a condition where one or both of the testes fail to descend into the scrotum before birth.

**Mechanism:**
- Normally, the testes develop in the fetus's abdomen and descend into the scrotum through the inguinal canal during the last few months of pregnancy.
- In cryptorchidism, this descent is halted or delayed, causing the testes to remain in the abdomen or inguinal canal.

**Molecular Mechanisms:**
- **Hormonal Regulation:** The descent of the testes is influenced by several hormones, including insulin-like 3 (INSL3) and testosterone. INSL3, produced by Leydig cells in the testes, plays a crucial role in the transabdominal descent by interacting with its receptor LGR8 on gubernacular cells. Testosterone is essential for the inguinoscrotal phase of testicular descent.
- **Gubernaculum Development:** The gubernaculum is a ligament-like structure that guides the testes into the scrotum. Hormonal signals stimulate the gubernaculum to elongate and pull the testes downward.
- **Genetic Factors:** Several genes, such as HOXA10, HOXA11, and AR (androgen receptor), are implicated in normal testicular descent. Mutations or alterations in these genes can interfere with this process.
- **Cell Signaling Pathways:** Various signaling pathways, including those involving growth factors and extracellular matrix remodeling enzymes, are critical for the proper development and migration of the testes.

Failures in any of these molecular mechanisms can result in cryptorchidism, leading to complications such as impaired fertility and increased risk of testicular cancer if left untreated.
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, also known as undescended testicles, typically requires surgical intervention, such as orchiopexy, to relocate the testicle into the scrotum. There isn't a well-established compassionate use treatment for cryptorchidism because surgical repair is generally effective and the standard of care.

However, off-label or experimental treatments may include hormonal therapies, such as injections of human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH), to induce testicular descent. These hormonal treatments are not as commonly used due to varying success rates and potential side effects.

For specific compassion use or experimental treatments, consulting with a healthcare provider specializing in pediatric urology or endocrinology would be the best course of action. They can provide up-to-date information and assess individual cases for potential inclusion in clinical trials or other emerging therapies.
Lifestyle Recommendations: Cryptorchidism, or undescended testicles, is often present at birth. Addressing lifestyle recommendations directly linked to cryptorchidism isn't typically relevant, as it's a congenital condition rather than one influenced by lifestyle. However, general recommendations for overall reproductive health include:

1. **Regular Check-ups:** Early diagnosis and treatment by a healthcare provider are crucial. Ensure regular pediatric visits to monitor the condition.
2. **Healthy Diet:** Ensure a balanced diet to support general health and development.
3. **Avoidance of Environmental Toxins:** Limit exposure to pesticides and chemicals that may affect hormonal health.
4. **Healthy Weight:** Maintain a healthy weight as obesity can introduce complications.
5. **Avoid Tight Clothing:** Loose-fitting clothes can help avoid potential discomfort or issues with circulation.

Surgical intervention, typically an orchiopexy, is the primary treatment, usually performed before the child turns one year old, to reduce potential risks associated with cryptorchidism, such as infertility or testicular cancer.
Medication: Cryptorchidism, or undescended testicles, typically does not rely on medication as the primary treatment. Instead, surgical intervention, known as orchiopexy, is the standard approach. Hormonal treatments, such as human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH), have been used in some cases but are generally less effective and less commonly recommended compared to surgery.
Repurposable Drugs: For cryptorchidism, repurposable drugs are not typically a primary treatment strategy, as the condition often requires surgical intervention. Cryptorchidism, or undescended testicles, is commonly treated through an orchiopexy procedure to move the undescended testicle into the scrotum. Hormonal treatments, such as human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH), have been used in some cases but with varying success rates. There is currently no widely accepted or specific drug that can be repurposed to treat cryptorchidism effectively.
Metabolites: Cryptorchidism, also known as undescended testes, does not directly alter specific metabolites in a general sense, as it is primarily a condition affecting the position of the testes rather than metabolic processes. However, undescended testes can have secondary effects on hormone levels and reproductive health. Metabolic abnormalities are not typically the focus in cryptorchidism.

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Nutraceuticals: In the context of cryptorchidism, nutraceuticals have not been widely studied or established as a standard treatment. Cryptorchidism typically requires medical or surgical intervention, such as hormonal therapy with human chorionic gonadotropin or orchiopexy to reposition the undescended testicle. Always consult a healthcare provider for appropriate diagnosis and treatment options.
Peptides: Cryptorchidism, a condition in which one or both testes fail to descend into the scrotum, is not typically treated with peptides or nanotechnology. Treatment usually involves hormone therapy, such as human chorionic gonadotropin (hCG) or gonadotropin-releasing hormone (GnRH), or surgical intervention known as orchidopexy to move the undescended testis into the scrotum. Further research may explore advanced treatments, but current standard practices do not prominently feature peptides or nanotechnology.