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Hypospadias

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Description: Hypospadias is a congenital condition in males where the opening of the urethra is located on the underside of the penis rather than at the tip.
Type: Hypospadias is a congenital condition affecting the urethra in males. It is typically classified based on the location of the urethral opening into three main types:

1. **Glandular**: The opening is near the head of the penis.
2. **Penile**: The opening is along the shaft of the penis.
3. **Penoscrotal**: The opening is where the penis and scrotum meet or on the scrotum.

Hypospadias has a multifactorial inheritance pattern, involving both genetic and environmental factors. Although no single mode of genetic transmission has been pinpointed, family history can increase the risk, suggesting a hereditary component. Specific genetic mutations and alterations in certain pathways (like androgen pathways or estrogen pathways) have been associated with the condition.
Signs And Symptoms: Hypospadias is a congenital condition in males where the opening of the urethra is not located at the tip of the penis.

**Signs and Symptoms:**

1. **Urethral opening location:** The urethral meatus is located on the underside of the penis, which can vary from just below the tip to the scrotum.
2. **Downward curvature of the penis (chordee):** The penis may curve downward, especially noticeable during an erection.
3. **Abnormal spraying during urination:** Due to the mislocated urethral opening, boys may experience unusual spraying patterns while urinating.
4. **Hooded appearance of the penis:** The foreskin is usually only present on the top side of the penis, creating a hooded appearance.
5. **Difficulty with toilet training:** Boys may struggle with potty training due to challenges in directing the urine stream.

If not corrected surgically, hypospadias can lead to issues with urination, sexual function, and self-esteem as the child grows. Early diagnosis and treatment are often advisable.
Prognosis: The prognosis for hypospadias, particularly after surgical correction, is generally very good. Most individuals who undergo surgery for hypospadias can expect normal urinary and reproductive function. Surgery is typically performed when the child is between 6 and 18 months old, and although there can be complications such as fistula formation or urethral stricture, these are usually manageable with follow-up care. Overall, with prompt and appropriate treatment, children with hypospadias can lead normal, healthy lives.
Onset: Hypospadias is a congenital condition, meaning it is present at birth. The exact cause is often unknown but can involve a combination of genetic and environmental factors. The condition is observed in newborn males, with symptoms apparent at birth, typically noted as an abnormal placement of the urinary meatus (the opening of the urethra) on the underside of the penis rather than at the tip.
Prevalence: Hypospadias is a congenital condition affecting newborn males where the opening of the urethra is located on the underside of the penis instead of at the tip. The prevalence of hypospadias varies by region and population but generally occurs in approximately 1 in every 200 to 300 live male births.
Epidemiology: Hypospadias is among the most common birth defects in the world and is said to be the second-most common birth defect in the male reproductive system, occurring once in every 250 males.Due to variations in the reporting requirements of different national databases, data from such registries cannot be used to accurately determine either incidence of hypospadias or geographical variations in its occurrences.
Intractability: No, hypospadias is not considered intractable. It is a congenital condition where the urethral opening is located on the underside of the penis rather than at the tip. It is typically treated with surgical intervention, which usually has good outcomes in terms of function and appearance.
Disease Severity: Hypospadias is a congenital condition rather than a disease. The severity varies depending on the location of the urethral opening and can range from mild to severe. In mild cases, the opening is near the tip of the penis, while in more severe cases, it may be located along the shaft or near the scrotum. Treatment often involves surgical correction, with the approach tailored to the severity and specific characteristics of each case.
Healthcare Professionals: Disease Ontology ID - DOID:10892
Pathophysiology: Hypospadias is a congenital condition affecting the male urethra where the urinary opening (meatus) is located on the underside of the penis rather than at the tip. The pathophysiology involves incomplete development of the urethral folds and the urethral plate during embryogenesis. This can lead to varying degrees of abnormal placement of the meatus, curvature of the penis (chordee), and foreskin abnormalities. Factors contributing to this include genetic influences, hormonal imbalances during fetal development, and environmental exposures.
Carrier Status: Hypospadias is a congenital condition affecting the urethra in males, where the urethral opening is located on the underside of the penis rather than at the tip. It is not typically inherited in a simple carrier status fashion as seen in some genetic disorders. Instead, its occurrence is influenced by a combination of genetic and environmental factors. The exact cause is often unknown, but it may involve both familial and sporadic cases.
Mechanism: Hypospadias is a congenital condition affecting the urethra in males where the urethral opening is located on the underside of the penis rather than at the tip.

**Mechanism:**
During normal fetal development, the urethra forms and extends along the length of the penis, with the urethral opening developing at the tip. In hypospadias, this process is disrupted, leading to the urethral opening forming on the underside of the penis, which can range from just beneath the glans to the base of the penile shaft or even the perineum.

**Molecular Mechanisms:**
1. **Hormonal Factors:**
- Androgens (e.g., testosterone) and their receptors play a crucial role in normal urethral development. Insufficient androgen levels or dysfunctional androgen receptors can disrupt this process.

2. **Genetic Factors:**
- Mutations in several genes involved in androgen synthesis or metabolism can cause hypospadias. For instance, mutations in genes like *SRD5A2* (which converts testosterone to its more potent form, dihydrotestosterone) and *AR* (androgen receptor) have been implicated.

3. **Environmental Influences:**
- Exposure to endocrine-disrupting chemicals (EDCs) such as phthalates, pesticides, and other compounds can interfere with normal androgen signaling pathways, increasing the risk of hypospadias.

Understanding these molecular mechanisms is crucial for developing preventive and therapeutic strategies for hypospadias.
Treatment: Where hypospadias is seen as a genital ambiguity in a child, the World Health Organization standard of care is to delay surgery until the child is old enough to participate in informed consent, unless emergency surgery is needed because the child lacks a urinary opening. Hypospadias is not a serious medical condition. A urinary opening that is not surrounded by glans tissue is more likely to "spray" the urine, which can cause a person to sit to urinate because they cannot reliably stand and hit the toilet. Chordee is a separate condition, but where it occurs, the downward curvature of the penis may be enough to make sexual penetration more difficult. For these reasons or others, people with hypospadias may choose to seek urethroplasty, a surgical extension of the urethra using a skin graft.Surgery can extend the urinary channel to the end of the penis, straighten bending, and/or change the foreskin (by either circumcision or by altering its appearance to look more typical ("preputioplasty"), depending on the desire of the patient. Urethroplasty failure rates vary enormously, from around 5% for the simplest repairs to damage in a normal urethra by an experienced surgeon, to 15-20% when a buccal graft from the inside of the mouth can be used to extend a urethra, to close to 50% when graft urethral tubes are constructed from other skin.When the hypospadias is extensive–third degree/penoscrotal–or has associated differences in sex development such as chordee or cryptorchidism, the best management can be a more complicated decision. The world standard (UN and WHO) forbids nonessential surgery to produce a "normal" appearance without the informed consent of the patient, and the American Academy of Pediatrics currently recommends but does not require the same standard. The AAP Textbook of Pediatric Care states "Gender assignment in patients with genital ambiguity should be made only after careful investigation by a multidisciplinary team; increasingly, surgical decisions are delayed until the child is able to participate in the decision-making process." A karyotype and endocrine evaluation should be performed to detect intersex conditions or hormone deficiencies that have major health risks (i.e. salt-wasting). If the penis is small, testosterone or human chorionic gonadotropin (hCG) injections may be given with consent to enlarge it before surgery if this will increase the chance of a successful urethral repair.Surgical repair of severe hypospadias may require multiple procedures and mucosal grafting. Preputial skin is often used for grafting and circumcision should be avoided before repair. In patients with severe hypospadias, surgery often produces unsatisfactory results, such as scarring, curvature, or formation of urethral fistulas, diverticula, or strictures. A fistula is an unwanted opening through the skin along the course of the urethra, and can result in urinary leakage or an abnormal stream. A diverticulum is an "outpocketing" of the lining of the urethra which interferes with urinary flow and may result in posturination leakage. A stricture is a narrowing of the urethra severe enough to obstruct flow. Reduced complication rates even for third-degree repair (e.g., fistula rates below 5%) have been reported in recent years from centers with the most experience. However, typical complications in urethroplasty for severe hypospadias can lead to long surgical cycles of failure and repair, and side effects may include loss of sexual or urinary function. Research suggests failure rates are higher when urethroplasty corrects a born condition rather than disease or injury so patients and families considering surgery for hypospadias should have realistic expectations about the risks and benefits.
Compassionate Use Treatment: Hypospadias is typically treated surgically, and there is no established "compassionate use" treatment specific to this condition.

However, off-label or experimental treatments may include:
1. **Hormonal therapy**: Preoperative hormonal stimulation using testosterone or human chorionic gonadotropin (hCG) can be used to enlarge penile size before surgery, although not all clinicians agree on this approach.
2. **Tissue Engineering**: Experimental approaches using tissue engineering and stem cells to reconstruct urethral defects are in early research stages.

These treatments are not standard and should be discussed thoroughly with a qualified medical professional.
Lifestyle Recommendations: Hypospadias is a congenital condition affecting the urethra in males. Here are some lifestyle recommendations:

1. **Pre-Surgery Care:** If surgery is planned, follow the pediatric urologist’s recommendations for pre-surgical care. This may include avoiding certain medications and ensuring the child is healthy to undergo surgery.

2. **Post-Surgery Care:** Post-operative care is crucial. Keep the surgical area clean and dry, follow pain management guidelines, and adhere to follow-up appointments with the healthcare provider.

3. **Diapering and Hygiene:** For infants, change diapers frequently to keep the area dry and reduce infection risks. Use mild, unscented wipes to avoid irritation.

4. **Physical Activity:** Limit physical activities that may put stress on surgical sites or lead to discomfort, based on the doctor’s advice.

5. **Hydration and Diet:** Maintain proper hydration and a balanced diet to promote overall healing and health.

6. **Education and Support:** Educate family members about the condition and its management. Seek support groups or counseling if needed to address any emotional or psychological concerns.

Always consult healthcare providers for personalized recommendations.
Medication: Hypospadias is typically corrected through surgical intervention rather than medication. Surgery usually involves repositioning the urethral opening and, if necessary, reconstructing the urethra. There are no specific medications that correct hypospadias itself. However, post-operative care may involve medications such as antibiotics to prevent infection and pain management drugs.
Repurposable Drugs: Hypospadias is a congenital condition in males where the opening of the urethra is not located at the tip of the penis. The primary treatment for hypospadias is surgical correction, usually performed in early childhood. There are no specific repurposable drugs widely recognized for treating hypospadias itself. The focus is mainly on surgical intervention to correct the anatomical anomaly and associated functional issues.
Metabolites: Hypospadias is a congenital condition affecting the urethra in males, which does not typically involve specific metabolites as a primary concern. The condition is characterized by the abnormal placement of the urethral opening. If you need information about treatment, diagnosis, or causes, please let me know.
Nutraceuticals: Nutraceuticals, which are food products that provide health and medical benefits, are not typically used in the treatment or management of hypospadias. Hypospadias is a congenital condition where the opening of the urethra is on the underside of the penis. The primary treatment for hypospadias is surgical correction, usually performed during infancy or early childhood. Nutraceuticals have not been shown to prevent, treat, or correct this anatomical condition.
Peptides: Hypospadias is a congenital condition in males where the opening of the urethra is located on the underside of the penis rather than at the tip. It is primarily corrected through surgical intervention. There is limited current research directly linking peptides to the treatment of hypospadias. Peptides generally play a role in signaling and biological processes, but their direct application to hypospadias surgery or outcomes has not been well established.

"nan" is not directly related to hypospadias. If it is an abbreviation for "nanoscale" or "nanotechnology," these fields are still in the early stages of exploration regarding their potential applications in surgical techniques or medical treatments for hypospadias. There is no established treatment for hypospadias involving nanotechnology at this point.