Hypospadias is a birth defect found in boys in which the penile meatus is not at the tip of the penis. The meatus is the term for the opening of the penis through which urine normally exits the bladder. The incidence is reported to be 1 in 300 live male births. There is some family risk of hypospadias, as familial tendencies have been noted. Up to 14% of male siblings are affected.
Hypospadias is usually classified according to the location of the opening. As the defect increases in severity, the opening to the penis will be found further back on the penis. The most severe types can have openings at the region of the scrotum and even in the perineum (the region between the anus and scrotum).
Hypospadias is one of the more common birth abnormalities of the genitalia among male infants. It’s not a condition that people talk about very much, so most families are unaware of its existence. The term "hypospadias" comes from Greek (hypo, under and spadias, rent) and refers only to the location of the opening through which the child urinates. Hypospadias can be associated with another defect called chordee. Chordee is a downward curvature of the penis. Both hypospadias and chordee must be repaired so that a child can have normal urinary and reproductive health.
In a normal penis, the urine tube (urethra) travels through the shaft of the penis to an opening (meatus) located in the center of the head of the penis (glans). The foreskin is the loose skin that surrounds the head of the penis and is the part that is removed during circumcision. In boys with hypospadias, the urine tube is short and does not come out to the end of the penis. The opening could be located anywhere along the underside of the shaft of the penis or even in the scrotum. Fortunately, almost 90 percent of hypospadias cases are minor with the urethral opening on or just below the head of the penis. The remaining are more severe, producing some degree of functional difficulty with both voiding and sexual activity.
Hypospadias is a common anomaly of the external genitalia in newborns, occurring in about 1 out of every 150 to 250 live births. It is defined as a congenital defect of the penis, in which the urethral meatus (opening of the urethra) is incompletely developed. This can cause the opening of the urethra to be located anywhere on the ventral (bottom) surface of the penis. In mild cases it may be at the base of the glans (the head of the penis) or just a little bit off center, but it more severe cases it may be anywhere along the bottom shaft of the penis or on the scrotum.
Hypospadias, in addition to the cosmetic effects, can cause a child's urinary stream to be deformed because the meatus is not centered. This can range from a mildly downward deflected stream and difficulty urinating while standing up for children with a mild hypospadias to more serious difficulties if the meatus is on the shaft of the penis or on the scrotum. It may also cause sexual dysfunction if there is any curvature to the penis and it is not corrected.
While hypospadias my be genetically inherited, and is more common in children in which his father and a sibling also have hypospadias, it is usually an isolated abnormality, although it may be associated with undescended testicles and/or inguinal hernias in some children. The incidence of hypospadias does seem to be increasing.
Hypospadias is usually easy to notice in a newborn because it is commonly associated with a hooded foreskin, making the opening of the urethra easy to see. Children with a hooded foreskin have a foreskin that is developed normally on the top and sides of the tip of the penis, but with an absent foreskin on the bottom. In about 5% of cases of hypospadias, the foreskin is completely formed and normal appearing and will cover up the hypospadias. In these cases, unless the child is being circumcised, the hypospadias will probably not be discovered until much later in life when his foreskin begins to naturally retract.
The treatment of hypospadias is always surgical. Initially when the child is born and hypospadias is identified, it is important to delay any thoughts of circumcision until seen by a urologist. This is because the foreskin can provide essential additional skin needed to reconstruct the urethra.
We often repair hypospadias before a child is one year of age. This way, the boy is in diapers and management of dressings are made easier. However, the exact age of repair can vary according to the size of the penis and severity of the defect. We have been able to repair most of the children with a single operation, but on occasion, a second operation may be needed. The operation is performed under general anesthesia with the child completely asleep. Most of the boys will have a small tube exiting the tip of their new meatus. This "stent" will protect the new urethra and allow for adequate healing. Most patients leave the hospital the same day or the following day. However, more complex repairs for the more severe types of hypospadias can require longer hospital stays due to the need for bedrest and immobilization in the immediate post-operative setting.
The exact type of operation employed varies according to the severity of the defect. For the more distal defects that have openings closer to the normal position at the end of the penis, a new tube can be created from the surrounding skin. This creation of a tube is known as a Thiersch-Duplay repair. For more severe defects, the options range. Additional hairless skin is often needed to recreate the urethral tube when longer defects are seen. Here, the subdermal skin of the foreskin can be used. For the most severe defects, we can remove mucosal skin from the inside of the cheek or use subdermal skin from other hairless parts of the body. It is important to use hairless skin as future hair growth in the neourethra can present multiple problems.
The surgical repair is usually performed early, when your child is between six months and 12 months of age. Surgery will help to release a chordee and bring the meatus up to the tip of the glans, so that your child can have a normal urinary stream. Except for severe cases, most repairs are in a one stage procedure. More severe cases may need two stages to completely repair the hypospadias, and may also involve the use of suprapubic tubes or urinary drip stents as a urinary diversion. Most children with hypospadias should see a Pediatric Urologist shortly after they are born for an evaluation and to discuss the need for treatment. It is also important to defer a circumcision until this evaluation is complete. For more severe cases of hypospadias, especially if there are undescended testes and a concern for ambiguous genitalia, the evaluation should occur as soon as possible and while he is still in the nursery.