Hypospadias: An Overview

Stated simply, hypospadias is a mislocation of the urinary opening, below the usual place on the tip of the penis in males, or when the bladder empties through the front vaginal wall in females. This is the end of the simple part, as hypospadias is one of the most variable of birth differences and is the most common birth difference in boys. The location of the opening can vary from just below the tip of the penis, to the most severe variety in which the bladder empties just forward of the rectum. Hypospadias occurs as a part of over 100 known genetic syndromes, and can be accompanied by other birth differences such as inguinal hernia and undecended testicles.

Chordee, a bending of the penis, is frequently a fundamental part of hypospadias, although it is possible for both conditions to occur without the other. Boys with hypospadias will often have a hooded foreskin, which is a foreskin that is incomplete on the bottom of the penis. Circumcision should not be performed on boys with hypospadias, as foreskin often provides tissue necessary for hypospadias repair surgery. It is still possible to perform hypospadias repair on a circumcised child, but it may be necessary to harvest grafts from less ideal locations if foreskin is not available. Some specialists can preserve or improve the appearance or function of the foreskin during hypospadias repair, if circumcision is not desired. Chordee is commonly repaired with hypospadias in single stage procedures, but more complicated cases may done in staged surgeries, with chordee repair being first.

Hypospadias is a term some specialists prefer to reserve to describe the male condition; in females, vesico-vaginal fistula (a passage from the bladder to the vagina) is the preferred diagnosis. In rare cases, this passage is the urethra. Diagnosis would depend on whether there is a normally located native urethra in addition to the fistula, the presence of which would exclude hypospadias. Girls with fistulae or hypospadias will urinate from the vagina, often with discomfort due to the irritating properties of urine. Children of both genders may have frequent or recurring urinary tract infections and in these cases follow-up investigation is often indicated to determine if urinary tract anomalies exist, or if reflux is present at the kidneys.

Hypospadias can occur in generations of families in a classic hereditary pattern and also as isolated cases. Most hypospadias is isolated, so while it can be passed down, it is not necessary to have a relative with hypospadias for there to be a possibility it will occur. Estimates are that there is an 8% increased risk of hypospadias if the father is affected, and 12% increased risk if an older sibling is also hypospadic. Please note that this is NOT an 8 or 12 percent risk of hypospadias in any random birth. It is an estimate of the increase in the overall background risk of bearing a child with hypospadias.

Overall estimates of the rate of occurence of hypospadias range from 1 in 300, to 1 in 125 live births, and like any other human demographic, the numbers change by location, accuracy of record keeping, consistency in classification of the difference and so on. While there is some difference in rates by race, the differences are not statistically significant. Hypospadias occurs in all races and ethnicities. Some researchers have concluded that hypospadias is increasing. Others have not reached that conclusion, pointing to inconsistent reporting of hypospadias in the past, and natural fluctuations in annual statistics.

Some things we don’t know about hypospadias:

  • There is a lot of internet content on pesticides, pthalates, phytoestrogens, DES, prescription drugs, industrial pollution and so on, and the hypothetical effects on birth defects. While we do know that certain prescription drugs can cause hypospadias, the links between hypospadias and other substances in the environment have not been proven. At this time, there is no proven single cause for hypospadias, and since hypospadias is highly variable in form and occurence, it is likely that it is caused by multiple factors.

Arthur: Douglas J