Congenital Anomalies of the Penis and Urethra
Introduction to Congenital Anomalies of the Penis and Urethra
Congenital anomalies of the penis and urethra are developmental disorders that occur during fetal growth. These conditions can range from mild to severe and may affect urinary function, sexual function, and psychological well-being. The most common anomalies include:
- Hypospadias
- Epispadias
- Chordee
- Micropenis
- Megalourethra
These conditions often coexist and can be associated with other urological or systemic abnormalities. Early diagnosis and appropriate management are crucial for optimal functional and cosmetic outcomes. The etiology of these anomalies is multifactorial, involving genetic, endocrine, and environmental factors.
Hypospadias
Hypospadias is one of the most common congenital anomalies of the penis, affecting approximately 1 in 200-300 male births.
Definition and Classification
Hypospadias is characterized by an abnormal ventral opening of the urethral meatus, which can be located anywhere from the glans to the perineum. It is often associated with an incomplete development of the foreskin (dorsal hooding) and may be accompanied by chordee.
Classification based on meatal location:
- Anterior (glanular, coronal, distal penile): 50-70% of cases
- Middle (midshaft): 20-30% of cases
- Posterior (proximal penile, penoscrotal, scrotal, perineal): 10-20% of cases
Etiology
The exact cause is unknown, but factors may include:
- Genetic predisposition
- Endocrine disruptions during fetal development
- Environmental factors (e.g., exposure to certain chemicals)
- Maternal factors (e.g., advanced age, certain medications during pregnancy)
Associated Anomalies
Hypospadias can be associated with:
- Cryptorchidism (undescended testicles)
- Inguinal hernia
- Upper urinary tract abnormalities
- Disorders of sex development in severe cases
Epispadias
Epispadias is a rare congenital anomaly, occurring in approximately 1 in 117,000 male births and 1 in 484,000 female births.
Definition and Classification
Epispadias is characterized by an abnormal dorsal opening of the urethral meatus. It is often associated with varying degrees of pubic bone separation and can be part of the bladder exstrophy-epispadias complex.
Classification in males:
- Glanular: Urethral opening on the dorsal aspect of the glans
- Penile: Urethral opening on the dorsal penile shaft
- Complete: Urethral opening at the penopubic junction
Associated Anomalies
Epispadias can be associated with:
- Bladder exstrophy
- Pubic diastasis
- Urinary incontinence
- Cryptorchidism
Clinical Presentation
Symptoms may include:
- Abnormal appearance of the penis
- Urinary incontinence
- Splaying of urinary stream
- Dorsal chordee
Chordee
Chordee is a congenital curvature of the penis, often associated with hypospadias but can also occur independently.
Definition and Types
Chordee is characterized by an abnormal downward (ventral) or rarely upward (dorsal) curvature of the penis. It can be classified into:
- Type I: Skin tethering only
- Type II: Fibrotic fascia and buck's fascia
- Type III: Corporal disproportion
- Type IV: Urethral tethering (usually associated with hypospadias)
Etiology
The exact cause is not fully understood, but it may involve:
- Abnormal development of the urethral plate
- Disproportionate growth of the ventral and dorsal aspects of the penis
- Fibrosis of the dartos fascia or Buck's fascia
Clinical Significance
Chordee can lead to:
- Difficulty with sexual intercourse
- Psychological distress
- Cosmetic concerns
Micropenis
Micropenis is a condition where a genetically male infant has an abnormally small penis size.
Definition
Micropenis is typically defined as a stretched penile length more than 2.5 standard deviations below the mean for age or stage of sexual development. In a full-term newborn, this is usually considered to be less than 2.5 cm.
Etiology
Micropenis can result from various factors:
- Hormonal disorders (e.g., hypogonadotropic hypogonadism)
- Genetic conditions (e.g., Klinefelter syndrome, Prader-Willi syndrome)
- Developmental abnormalities
- Exposure to endocrine disruptors during fetal development
Clinical Significance
Micropenis can lead to:
- Difficulties with urination (if severe)
- Sexual function concerns
- Fertility issues
- Psychological and social challenges
Megalourethra
Megalourethra is a rare congenital anomaly characterized by dilatation and elongation of the penile urethra.
Definition and Types
There are two main types of megalourethra:
- Scaphoid: Involves only the absence or hypoplasia of the corpus spongiosum
- Fusiform: Involves the absence or hypoplasia of both corpus spongiosum and corpora cavernosa
Etiology
The exact cause is unknown, but it's believed to result from:
- Incomplete development of the corpus spongiosum and/or corpora cavernosa
- Possibly associated with other urogenital abnormalities
Clinical Presentation
Symptoms may include:
- Ballooning of the penile urethra during urination
- Difficulty emptying the urethra completely
- Urinary tract infections
- Abnormal appearance of the penis
Management and Treatment of Congenital Anomalies of the Penis and Urethra
Management of these conditions often requires a multidisciplinary approach involving urologists, endocrinologists, and mental health professionals. The primary goals are to achieve normal urinary function, preserve sexual function, and provide a cosmetically acceptable appearance.
Hypospadias
- Surgical repair (urethroplasty) is the primary treatment
- Timing: Usually performed between 6-18 months of age
- Techniques vary based on the severity and location of the defect
- May require multiple stages for severe cases
Epispadias
- Surgical reconstruction is necessary
- Often requires a staged approach
- Goals include penile straightening, urethral reconstruction, and achieving continence
Chordee
- Surgical correction (orthoplasty) is typically performed
- Often addressed during hypospadias repair if present
- Techniques include dorsal plication, ventral lengthening, or a combination
Micropenis
- Hormonal therapy (e.g., testosterone) may be used in infancy to stimulate penile growth
- Psychological support is crucial
- In severe cases, surgical options may be considered in adolescence or adulthood
Megalourethra
- Surgical reconstruction is the primary treatment
- Techniques aim to reduce urethral diameter and improve function
- May require multiple procedures
Follow-up and Long-term Care
Long-term follow-up is essential for all these conditions to:
- Monitor urinary and sexual function
- Assess cosmetic outcomes
- Address any psychological concerns
- Manage potential complications or need for revision surgeries
Advances in surgical techniques and a better understanding of the psychological aspects of these conditions have significantly improved outcomes in recent years. However, each case requires individualized care and thorough discussion with the patient and family about treatment options and expectations.
Hypospadias
- What is hypospadias?
A congenital condition where the urethral opening is on the underside of the penis instead of at the tip - Which sex is primarily affected by hypospadias?
Males - What is the approximate incidence of hypospadias?
1 in 200-300 male births - Which of the following is NOT a common classification of hypospadias?
Perineal (the other types are anterior, middle, and posterior) - What is the most common type of hypospadias?
Anterior (distal) hypospadias - Which hormone deficiency is associated with hypospadias?
Testosterone - At what age is surgical correction of hypospadias typically performed?
Between 6-18 months of age - What is the primary goal of hypospadias repair surgery?
To create a straight penis with a meatus at the tip and enable normal urination - Which of the following is NOT a common complication of hypospadias repair?
Increased fertility (common complications include fistula, stricture, and dehiscence) - What is the term for the abnormal downward curvature of the penis often associated with hypospadias?
Chordee - Which genetic syndrome is associated with an increased risk of hypospadias?
Klinefelter syndrome - What percentage of boys with hypospadias have at least one undescended testicle?
Approximately 8-10% - Which environmental factor has been linked to an increased risk of hypospadias?
Maternal exposure to endocrine-disrupting chemicals - What is the name of the surgical technique that uses the foreskin to create a new urethral tube?
Tubularized incised plate (TIP) urethroplasty - How many stages are typically required for severe proximal hypospadias repair?
Two or more stages - What is the term for the ridge of skin on the underside of the penis in hypospadias?
Urethral plate - Which specialty is primarily responsible for hypospadias repair?
Pediatric urology - What is the approximate success rate of primary hypospadias repair?
85-90% - Which of the following is NOT a typical indication for hypospadias repair?
Improved fertility (typical indications include abnormal urine stream, cosmetic concerns, and sexual function) - What is the term for the incomplete closure of the penile urethra?
Hypospadias - Which imaging study is commonly used to evaluate the urinary tract in patients with proximal hypospadias?
Voiding cystourethrogram (VCUG) - What is the most common age for diagnosis of hypospadias?
At birth or during newborn examination
Epispadias
- What is epispadias?
A rare congenital condition where the urethra opens on the upper surface of the penis - What is the approximate incidence of isolated epispadias?
1 in 117,000 male births - Which congenital anomaly is epispadias most commonly associated with?
Bladder exstrophy - What is the embryological cause of epispadias?
Abnormal migration and fusion of the primordial genital folds - In female epispadias, where is the urethral opening typically located?
Between the clitoris and anterior vaginal wall - Which of the following is NOT a common classification of epispadias in males?
Scrotal (the types are penopubic, penile, and glanular) - What percentage of patients with classic bladder exstrophy also have epispadias?
100% - At what age is surgical correction of isolated epispadias typically performed?
Between 6-18 months of age - What is the primary goal of epispadias repair surgery?
To achieve urinary continence and improve genital appearance - Which of the following is NOT a common complication of epispadias repair?
Increased fertility (common complications include incontinence, fistula, and sexual dysfunction) - What is the term for the complex of anomalies including epispadias, bladder exstrophy, and cloacal exstrophy?
Exstrophy-epispadias complex (EEC) - Which gender is more commonly affected by isolated epispadias?
Males - What is the approximate male to female ratio in isolated epispadias?
5:1 - Which surgical technique is commonly used for penile epispadias repair?
Mitchell technique (complete penile disassembly and reassembly) - What is the term for urinary incontinence associated with epispadias?
Stress urinary incontinence - Which of the following is NOT typically associated with epispadias?
Cryptorchidism (undescended testicles) - What is the most severe form of epispadias in males?
Penopubic epispadias - Which specialty is primarily responsible for epispadias repair?
Pediatric urology - What percentage of patients with isolated epispadias achieve urinary continence after repair?
Approximately 80-85% - Which imaging study is commonly used to evaluate the upper urinary tract in patients with epispadias?
Renal ultrasound - What is the term for the separation of the pubic bones often associated with epispadias?
Pubic diastasis - Which of the following is NOT a typical indication for epispadias repair?
Improved fertility (typical indications include urinary incontinence, genital appearance, and sexual function)
Chordee
- What is chordee?
A congenital or acquired condition causing abnormal downward curvature of the penis - Which congenital condition is chordee most commonly associated with?
Hypospadias - What percentage of patients with hypospadias have associated chordee?
Approximately 50-60% - What is the primary embryological cause of congenital chordee?
Abnormal development of the urethral plate and surrounding tissues - At what age is surgical correction of chordee typically performed?
Between 6-18 months of age - What is the primary goal of chordee repair surgery?
To achieve a straight penis for normal urination and sexual function - Which of the following is NOT a common classification of chordee?
Lateral (the types are ventral, dorsal, and congenital short urethra) - What is the most common type of chordee?
Ventral chordee - Which surgical technique is commonly used for mild to moderate chordee correction?
Nesbit plication - What is the term for the release of fibrous tissue on the ventral aspect of the penis to correct chordee?
Dorsal plication - Which of the following is NOT a common cause of acquired chordee?
Vitamin D deficiency (common causes include trauma, infection, and Peyronie's disease) - What is the approximate success rate of chordee correction surgery?
80-90% - Which specialty is primarily responsible for chordee repair in children?
Pediatric urology - What is the term for the artificial erection induced during surgery to assess chordee?
Artificial erection test - Which of the following is NOT a typical indication for chordee repair?
Improved fertility (typical indications include abnormal urine stream, cosmetic concerns, and sexual function) - What is the most common complication of chordee repair surgery?
Recurrence of penile curvature - Which imaging study is commonly used to evaluate chordee in adults?
Penile duplex Doppler ultrasound - What is the term for the fibrous tissue that may cause chordee?
Dartos fascia - Which of the following is NOT a typical component of chordee repair?
Urethral reconstruction (unless associated with hypospadias) - What is the approximate incidence of isolated chordee (without hypospadias)?
1 in 200-300 male births - Which hormone therapy may be used in some cases before chordee repair?
Preoperative testosterone stimulation - What is the term for the complete release of all tethering tissues in severe chordee cases?
Radical chordee release
Micropenis
- What is the definition of micropenis?
A normally structured penis with a stretched length more than 2.5 standard deviations below the mean for age - What is the approximate incidence of micropenis?
1.5 in 10,000 male births - What is the stretched penile length diagnostic criteria for micropenis in a full-term newborn?
Less than 2.5 cm - Which of the following is NOT a common cause of micropenis?
Maternal diabetes (common causes include hormonal disorders, genetic syndromes, and idiopathic) - Which hormone deficiency is most commonly associated with isolated micropenis?
Growth hormone deficiency - What is the first-line treatment for micropenis in infancy?
Testosterone therapy - What is the typical duration of a course of testosterone therapy for micropenis?
3-4 months - Which of the following is NOT a typical route of testosterone administration for micropenis?
Oral (typical routes include intramuscular injection, topical gel, or patches) - What is the approximate success rate of testosterone therapy in achieving normal penile growth?
50-60% - At what age should the diagnosis of micropenis be definitively made?
After puberty - Which genetic syndrome is associated with an increased risk of micropenis?
Klinefelter syndrome - What is the primary goal of micropenis treatment?
To achieve normal penile growth and function - Which specialty is primarily responsible for the diagnosis and management of micropenis?
Pediatric endocrinology - What imaging study is commonly used to evaluate the hypothalamic-pituitary axis in patients with micropenis?
MRI of the brain and pituitary gland - Which of the following is NOT a typical component of the initial workup for micropenis?
Testicular biopsy (typical components include hormonal assays, karyotype, and pelvic ultrasound) - What is the term for the surgical lengthening of the penis?
Phalloplasty - At what age is surgical intervention for micropenis typically considered?
After puberty, if hormone therapy has been unsuccessful - Which of the following is NOT a common psychosocial issue associated with micropenis?
Increased aggression (common issues include low self-esteem, body image concerns, and sexual anxiety) - What is the approximate adult stretched penile length considered normal?
Greater than 9.3 cm - Which hormone is responsible for penile growth during puberty?
Testosterone - What is the term for the condition where the penis is absent or rudimentary?
Aphallia - Which of the following is NOT a typical indication for gender reassignment in cases of micropenis?
Parental preference (indications are based on medical necessity and patient's gender identity)
Megalourethra
- What is megalourethra?
A rare congenital anomaly characterized by dilatation and elongation of the penile urethra - What is the approximate incidence of megalourethra?
Less than 1 in 100,000 male births - Which of the following is NOT a common classification of megalourethra?
Proximal (the types are fusiform and scaphoid) - What is the embryological cause of megalourethra?
Defective development of the corpus spongiosum and/or corpora cavernosa - Which type of megalourethra is associated with complete or partial absence of corpus spongiosum?
Scaphoid megalourethra - Which type of megalourethra is associated with deficiency of both corpus spongiosum and corpora cavernosa?
Fusiform megalourethra - What percentage of patients with megalourethra have associated urinary tract anomalies?
Approximately 80-85% - Which of the following is NOT a common associated anomaly in megalourethra?
Hypospadias (common associations include vesicoureteral reflux, hydronephrosis, and prune belly syndrome) - At what age is surgical correction of megalourethra typically performed?
Between 6-18 months of age - What is the primary goal of megalourethra repair surgery?
To create a normal-caliber urethra and improve penile appearance and function - Which surgical technique is commonly used for megalourethra repair?
Urethroplasty with excision of redundant urethral tissue - What is the term for the ballooning of the urethra during urination in megalourethra?
Urethral diverticulum - Which imaging study is commonly used to evaluate the extent of urethral dilatation in megalourethra?
Voiding cystourethrogram (VCUG) - What is the most common complication of megalourethra repair surgery?
Urethrocutaneous fistula - Which specialty is primarily responsible for megalourethra repair?
Pediatric urology - What is the approximate success rate of primary megalourethra repair?
70-80% - Which of the following is NOT a typical indication for megalourethra repair?
Improved fertility (typical indications include abnormal urine stream, urinary retention, and cosmetic concerns) - What is the term for the incomplete development of the corpus spongiosum in megalourethra?
Spongiosal agenesis - Which genetic syndrome is associated with an increased risk of megalourethra?
Prune belly syndrome - What is the most severe form of megalourethra?
Fusiform megalourethra - Which of the following is NOT a typical component of the initial workup for megalourethra?
Cystoscopy (typical components include physical examination, ultrasound, and VCUG)
