Hypospadias | Clinical Features | Management

Introduction

Hypospadias is a common congenital defect occurring in up to 1 in 250 males.

It is characterised by three features, and each can vary in severity:

• The urethral meatus opens onto the ventral (underside) aspect of the penis or scrotum
• The foreskin is incompletely formed, leading to a ‘hooded’ appearance
• There is a ventral curvature of the penis

Hypospadias is usually identified during the newborn baby check, but sometimes there can be a delay in diagnosis. It is important to recognise hypospadias as it may lead to difficulties with urination and sexual function in adults.¹

Aetiology

Whilst the exact aetiology is unknown, several factors are linked to the development of hypospadias. It can be inherited and is more common in males with a family history of hypospadias, and those with decreased androgen sensitivity or lower androgen levels.²

Pathophysiology

Hypospadias occurs due to a disruption of male external genitalia development during the first few weeks of gestation.² The external genitalia, which includes the urethra, forms in two phases.

The first phase is hormone-independent and occurs between the 5th and 8th weeks of gestation, during which the primordial genitalia develop. Mesodermal cells form the cloacal folds, which fuse anteriorly to form the genital tubercle. Posteriorly, they form the urogenital folds.

The second phase is hormone-dependent. Testosterone is made in the testes, which is important for two functions. Firstly, it elongates the genital tubercle, and secondly, it forms the urethral groove. Lateral to the urethral groove are urethral folds, which fuse to form the urethra. Hypospadias occurs when there is a failure of urethral closure.²

Risk factors

Typical risk factors for hypospadias include:

Clinical features

History

Typical symptoms of hypospadias include:

• Spraying of urine during voiding
• Curvature of the penis during erections
• In adults, it may lead to difficulties with penetrative sexual intercourse or ejaculation

Other important areas to cover in the history include:

• When the abnormality was first noticed
• Family history (e.g. of hypospadias)
• Antenatal history (e.g. gestational diabetes, hypertension, etc.)
• Past medical history (e.g. other congenital abnormalities)¹

Clinical examination

An examination of the external genitalia, testes and groin should be performed, assessing the location of the urethral meatus along the penile shaft/scrotum.

Typical clinical findings include:

• Urethral meatus located along the penile shaft or scrotum
• The foreskin may be ‘hooded’ or ‘winged’, as it is incompletely formed
• Undescended testis: almost 10% of cases of hypospadias are associated with cryptorchidism. Bilateral undescended testes suggests disorders of sexual development.
• Inguinal hernia: associated with around 9% of cases of hypospadias ^{1, 3}

Figure 1. Locations of the urethral meatus in hypospadias

Investigations

Hypospadias is predominantly a clinical diagnosis, and no further investigations are typically required.

In those with co-existing congenital cryptorchidism or undescended testes, endocrine and genetic assessment should be considered to exclude a disorder of sexual development, such as congenital adrenal hyperplasia.³ Laboratory tests may include urea and electrolytes, cortisol level and hormonal assays (such as the ACTH stimulation test).⁴

Imaging is not typically required for patients with hypospadias.³

Management

The choice of management depends on the severity of the condition and is a balance between maintaining function and cosmetic appearance. Patients should be referred to a specialist paediatric surgeon or urology clinic.

Conservative

For milder cases (i.e. presence of a ‘hooded foreskin’ only), surgical management may not be required if it is not causing concerns for the patient.³

Surgical

For more proximal hypospadias, patients usually require surgical management, which may be in two stages. This can involve urethroplasty (urethral reconstruction) and penile straightening.^2-3 Urethral reconstruction can often be performed using the patient’s foreskin, so prior circumcision should be avoided.²

Surgery is usually performed at an early age, around 6-18 months. The ability to pass urine, sexual function and cosmetic appearance should be considered.³ The primary aims of surgery are to enable voiding in a straight line and achieve penetrative intercourse.

Complications

If left untreated, patients can experience difficulty passing urine, penile curvature and painful sex. It can also lead to a poor cosmetic outcome and dissatisfaction with the appearance of the genitalia.³ 

Complications of surgical management include fistula formation (e.g. an abnormal connection between the urethra and the skin) and meatal stenosis (narrowing of the urethral meatus).³

Reviewer

Mr Edward Tudor

Consultant Urologist

Editor

Dr Jamie Scriven

References

1. Mole RJ, Nash S, MacKenzie DN. Hypospadias. BMJ. 2020. Available from: [LINK].
2. Donaire AE, Mendez MD. Hypospadias. StatPearls. 2023. Available from: [LINK].
3. Radmayr C, Bogaert G, Bujons A, et al. EAU Guidelines on Paediatric Urology. 2025. Available from: [LINK].
4. Vogiatzi M, Kilberg MJ. Congenital adrenal hyperplasia, BMJ best practice. 2024 Available from: [LINK].