Hypospadias affects roughly one boy in 250, and its cause is unknown
In hypospadias the urinary opening forms somewhere other than its usual spot at the tip of the penis. It ranks as the second most common birth difference of the male reproductive system, found in about one newborn boy in 250, or up to 4 percent if mild cases count. It can occur in girls too.
About nine in ten male cases are distal, meaning the opening, called the meatus, sits on or near the head of the penis. The rest are proximal, with the opening further down the shaft, near or even within the scrotum. Between the displaced opening and the tip there is usually a strip of shiny tissue known as the urethral plate, which would normally have formed part of the urethra.
The condition often has a recognisable look. The foreskin tends to be incomplete, missing on the underside so the head appears hooded. A downward curve called chordee may appear, present in about 10 percent of distal and 50 percent of proximal cases at the time of surgery, and sometimes the scrotum sits unusually high on either side. Yet appearances can mislead both ways: some babies have a hooded foreskin with a normally placed opening, while in others a normal foreskin conceals the condition until circumcision or later childhood.
Why it happens is still unclear. Researchers have looked at genes, at hormones before birth and at leftover epigenetic marks that guide sexual development. Usually hypospadias appears on its own, but in about 10 percent of cases it forms part of a broader syndrome or a difference of sex development. An undescended testicle is the most frequent companion, seen in around 3 percent of distal and 10 percent of proximal cases, and that pairing can prompt extra tests to rule out congenital adrenal hyperplasia with salt-wasting, which needs prompt care. Otherwise newborns do not routinely need blood tests or X-rays.
In females, hypospadias means the urethra opens on the front wall of the vagina and is shorter than usual; it may cause no symptoms or bring urinary infections and dribbling. Whether the condition counts as intersex is disputed. Several intersex rights groups say it does, and argue that surgically moving a functioning urethra on a child too young to consent violates human rights.
Source: Hypospadias
