Overview
Definition:
Hypospadias is a congenital anomaly characterized by the abnormal opening of the urethral meatus on the ventral surface of the penis, rather than at the glans
It is part of a spectrum of anomalies affecting the development of the penis and urethra.
Epidemiology:
The incidence of hypospadias varies geographically but is estimated to be between 1 in 250 to 1 in 300 live male births
It is more common in Caucasian populations
There is an increased risk of hypospadias in cases of assisted reproductive technology and in infants born to mothers on certain medications during pregnancy.
Clinical Significance:
Untreated hypospadias can lead to functional issues such as difficulties with urination (dribbling, spraying), sexual dysfunction (inability to ejaculate properly), and psychological distress
Early diagnosis and appropriate surgical intervention are crucial for optimal cosmetic and functional outcomes, impacting long-term quality of life.
Clinical Presentation
Symptoms:
Abnormal urinary stream (spraying or downward direction)
Presence of a foreskin that is incomplete ventrally and hooded dorsally
A palpable chordee (curvature of the penis when erect)
Difficulty in standing to void
Visual identification of the urethral meatus in an atypical location.
Signs:
Location of the urethral meatus (balanitic, mid-shaft, proximal penile, scrotal, perineal)
Degree of penile curvature (chordee)
Presence of a dorsal hood of foreskin
Bifid scrotum
Associated anomalies of the genitourinary tract (e.g., undescended testes, inguinal hernias, renal anomalies).
Diagnostic Criteria:
Diagnosis is primarily clinical, based on the physical examination of the external genitalia of a newborn male
No specific laboratory investigations are required for diagnosis
Imaging may be considered if other genitourinary anomalies are suspected.
Diagnostic Approach
History Taking:
Inquire about family history of hypospadias or other congenital anomalies
Ask about maternal medical history, including any medications taken during pregnancy (e.g., progesterone, progestins, certain anticonvulsants)
Note any concerns raised by parents or the neonatal care team regarding the infant's genitalia.
Physical Examination:
A thorough examination of the external genitalia is essential, focusing on the position of the urethral meatus, the presence and severity of chordee, the integrity of the glans, and the completeness of the foreskin
Palpate the testes for descent
Examine for associated anomalies of other systems.
Investigations:
Karyotype analysis may be considered in cases of severe hypospadias with other ambiguous genitalia or suspected genetic syndromes
Renal ultrasound is recommended to screen for associated renal anomalies
Voiding cystourethrogram (VCUG) may be indicated if there is significant suspicion of posterior urethral valves or other bladder outlet obstruction, especially in proximal hypospadias or if the infant has recurrent urinary tract infections.
Differential Diagnosis:
Ambiguous genitalia (e.g., congenital adrenal hyperplasia, androgen insensitivity syndrome)
Micropenis
Buried penis
Traumatic injury to the penis.
Surgical Timing And Referral
Referral Pathways:
All infants diagnosed with hypospadias should be referred to a pediatric urologist or pediatric surgeon for evaluation and management planning
Early referral ensures appropriate counselling of parents and timely surgical intervention
Cases with severe hypospadias, chordee, or associated anomalies warrant prompt consultation.
Surgical Timing Indications:
The optimal age for hypospadias repair is generally between 6 to 18 months of age
This timing allows for sufficient penile growth, minimizes disruption to the child's development and parental bonding, and is before the child develops significant psychosexual awareness
Elective repair is typically performed during this window.
Urgent Considerations:
Repair may be deferred in cases of severe penile anomalies or significant hypospadias with chordee where early intervention might be beneficial
However, the primary goal is functional and cosmetic restoration, which is best achieved when the child is in the recommended age range
Neonatal circumcision should be avoided in infants with hypospadias, as the foreskin is often a vital component for subsequent urethroplasty.
Management
Surgical Management:
The goal of surgery is to create a straight penis, relocate the urethral meatus to the tip of the glans, and provide an aesthetically pleasing result
Numerous surgical techniques exist, categorized broadly into one-stage and two-stage procedures, with the choice depending on the severity of the hypospadias, presence of chordee, and surgeon preference
Common techniques include the Mathieu, C-P, Snodgrass (MAGPI), and Duckbill flap procedures for distal hypospadias, and various free graft or island flap techniques for more proximal or severe cases.
Preoperative Preparation:
Detailed counselling of parents regarding the condition, surgical options, expected outcomes, potential complications, and the importance of avoiding circumcision prior to assessment
Preoperative antibiotics are generally administered
Medical optimization of the child.
Postoperative Care:
Pain management with analgesics
Application of a sterile dressing
Urinary catheterization is typically maintained for 5-7 days
Parents are instructed on catheter care and signs of complications
Antibiotics are continued for a specified period
Close follow-up is essential to monitor wound healing and assess surgical results.
Supportive Care:
Psychological support for parents, addressing concerns about their child's development and future sexual function
Education on proper hygiene and voiding posture post-surgery.
Complications
Early Complications:
Meatal stenosis: Narrowing of the urethral opening
Urethral fistula: Leakage of urine from an abnormal opening in the suture line
Wound infection
Hematoma
Catheter blockage.
Late Complications:
Recurrence of chordee
Meatal stenosis
Urethral stricture
Penile torsion
Cosmetic dissatisfaction
Sexual dysfunction
Sensation abnormalities.
Prevention Strategies:
Meticulous surgical technique
Careful handling of tissues
Use of appropriate surgical materials
Thorough postoperative wound care
Diligent follow-up
Avoiding circumcision in the neonatal period.
Prognosis
Factors Affecting Prognosis:
Severity of the initial anomaly
Complexity of the surgical repair
Surgeon's experience
Patient's adherence to postoperative care
Presence of associated genetic syndromes or other anomalies.
Outcomes:
Most children with hypospadias have excellent functional and cosmetic outcomes following surgical repair, with a high success rate for distal and mid-shaft hypospadias
Proximal or severe hypospadias may require multiple stages and have a higher complication rate, but satisfactory results are still achievable
Long-term follow-up is important to identify and manage late complications.
Follow Up:
Regular follow-up appointments with the pediatric urologist are necessary at 1 week, 1 month, 3 months, 6 months, and annually thereafter, or as indicated
These visits allow for assessment of wound healing, meatal patency, penile symmetry, and to address any emerging concerns related to voiding, sexual function, or fertility.
Key Points
Exam Focus:
Definition, incidence, and spectrum of hypospadias
Importance of avoiding neonatal circumcision
Recommended age for surgical repair (6-18 months)
Common surgical techniques (Mathieu, Snodgrass, etc.)
Most common early and late complications (fistula, meatal stenosis, chordee recurrence)
Significance of associated anomalies and the need for renal imaging.
Clinical Pearls:
Always examine the urethral meatus in a male infant
A dorsal hood of foreskin is a classic sign when the ventral foreskin is deficient
Chordee should be assessed both flaccidly and during erection (if possible/safe)
Consider karyotype and renal ultrasound in cases of proximal hypospadias or associated anomalies.
Common Mistakes:
Performing neonatal circumcision when hypospadias is suspected
Delaying referral to a specialist
Misinterpreting the severity or type of hypospadias
Neglecting to screen for associated genitourinary anomalies
Inadequate parental counselling regarding surgical outcomes and expectations.