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We cannot notice abnormalities during the development period, which continue until the baby is born. A harm in every 125 to 300 male babies is known today. The boy who is diagnosed with hypospadias can be operated on when he is over a year old, or he should learn to live with complaints such as urine skew and soiling. Especially in the cases in which the penis is erected and the urethra opening place is light, the surgical treatment taken only for aesthetic concerns bears the risk of compromising the success of urination in the form of short urethra, urine skew, and rupture, further afflictions. Because of these features, a correct and timely detected diagnosis before the operation is important.
The word hypospadias means a uterine opening. Hypospadias is a developmental malformation of the penis. The opening of the urethra is located on the bottom or in the middle and is off-centered to the genital apparatus. The disease is detected at the time of urination in boys whose development is normal until birth and develops as a result of surgical interventions. Since there is no obstacle to the translation of urine in hypospadias, it is not possible to distinguish hypospadias in the early term, and the disease is diagnosed when a disease called urine curve or urine bumps during urination is found.
The main genetic challenge for hypospadias research is that there is no animal model for this specific disorder. However, experimental models of estrogen synthesis in the male mouse have been used to illustrate the potential importance of estrogen in normal penile development. Increased physiological levels of estrogen or direct exposure to environmental estrogenic compounds may induce hypospadias, and not surprisingly, the best-described cause of hypospadias in humans is mutations in genes encoding the androgen receptor. Insufficient androgen signaling interventions have as a result down-regulation of androgen target genes and the loss of migration and differentiation of the urethral seam.
The global prevalence of hypospadias among live male newborns is about 6 cases per 1000 births in Europe, South America, and Asia, but lower—2-3—per 1000—in Oceania and North America. Reasons for the global increase in hypospadias prevalence are also hard to explain, but abnormal endocrine-disrupting compound exposure, increased parental age, and cultural changes delaying the time of isolation of male infants might be potential hypotheses and need further studies.
Hypospadias is a congenital malformation in newborn boys, in which the opening of the urethra is located on the ventral side of the penis while the normal position is on the glans penis. Worldwide prevalence is difficult to establish as data on hypospadias is still limited in some countries, but reports have shown large differences in prevalence and time trends over the past 50 years, with overall jeopardizing prevalence increasing notably in some countries.
When a mother has strabismus, her male children are slightly more likely to have hypospadias and other genital abnormalities. Hormonal factors also appear to be important for hypospadias. The urethral plate enlarges during fetal life in boys and during childhood in girls, in whom it turns into the “urethral sponge” that is located near the entrance of the vagina. Many cases might be due to subtle hormonal abnormalities that affect the urethral plate during formation, yet cause no other problems in the patients who have hypospadias.
Some studies have found an association with mothers who use hormone-like substances (such as pesticides or plant estrogens), but this has not been consistent. An association with other occupational exposures has been reported but needs confirmation. With the exception of drugs that appear to increase the risk when mothers take them in the first trimester of pregnancy, there has been relatively little success in identifying other specific environmental risk factors. A brief list of associations that have been explored includes coffee or caffeine, fever or taking fever medications, permethrin used indoors in the year before or during pregnancy, and amniocentesis.
The urinary tract is formed early in fetal life as the kidneys, ureters, and bladder develop and then connect to the primordial urethra. The urethra takes its final shape, called the “urethral plate”, early in the third month of pregnancy. In male children with hypospadias, the urethral plate fails to complete the significant enlargement and extension necessary to allow a full-sized penis to form.
There are no clear answers about what causes hypospadias. A combination of genetic and environmental factors almost certainly contribute. Hypospadias can run in families, and is more common in some ethnic groups. For example, the highest rates have been described in children of white mothers living in California, yet Native Americans and Mexican Americans in the same state have some of the lowest rates. Other studies have found the reverse, with a higher reported rate in Hispanic children.
The most well-known mutational hotspots are called the “pseudohermaphrodite” and “infant male with ambiguous genitalia”. Four point mutations called Arg246Gln, His234Arg, Ala204Thr, and Met30Thr were reported that reduced the enzyme’s catalytic activity. In addition to that, an additional 56 mutations have been reported and could provide insights into the genotype and phenotype relationships.
Few studies have been conducted examining the genetic traits of isolated hypospadias, and many of those issues cannot be easily addressed due to the multiplicity of genes and the heterogeneity in the clinical assessment of the condition. Still, a locus for hypospadias had been mapped to a certain number of chromosome 6 loci, 10 loci on the Y chromosome, and a few others, including 2q36. One of those genes is notable as it encodes for anti-Müllerian hormone, and another gene of particular interest is SRD5A2.
Extensive literature backs the fact that hypospadias is a complex condition likely induced by the interaction between genetics and environmental factors. Therefore, a child diagnosed with hypospadias is more likely to have a family history of the condition as well. However, there is concern about parents with a child diagnosed with hypospadias thinking that they are at an increased risk of transmitting this condition to their offspring, especially if the father was himself born with the condition. However, the actual risk is low (4 to 7%) and way lower compared to most other congenital malformations.
Androgens are steroid hormones which are secreted by the testis and act on other organs to bring about the development of the internal and external male genitalia. At approximately the seventh week of fetal life, the testis begins to secrete larger amounts of testosterone than occurs in the early embryonic period.
Testosterone is believed to convert the indifferent tissue that is capable of developing into either the male or female genitalia into the male external genitalia. It is the balance of the male hormone (testosterone) and the somewhat opposing female hormone (estrogen) that is critical for normal male genital development. It is clear from studies in animals that testosterone does not act on the indifferent genitalia at trivially low levels; thus there must be a threshold level of hormone needed to overcome programmed female genital development.
However, there is no positive evidence to implicate either too little testicular hormone or too much ovarian hormone in boys that develop hypospadias. Some experimental evidence suggests that androgens are not sufficient to complete penis development; other hormones such as prostaglandins and insulin-like growth factor 1 may also be involved in normal male external genitalia development.
If hypospadias is the result of an insufficient androgen, one way to increase androgen levels in pregnant women could be to give them a topical androgen ointment. Any such treatment would need to be potent enough to have a measurable effect on the fetus, but weak enough to avoid virilizing the mother.
Diagnosis of hypospadias is typically made after a thorough history, examination, and urinary tests. If you suspect your child has hypospadias, contact your child’s healthcare provider. In some cases, diagnosis occurs with an ultrasound that examines the kidneys, ureters, and bladder. If hypospadias is thought during fetal development, a specialist may monitor the baby during pregnancy to identify other associated anomalies. Upon delivery, tell your child’s doctor if you notice the hypospadiac meatus so a prompt referral to a pediatric urologist occurs.
Hypospadias results in the opening of the urethra occurring on the underside of the penis rather than at the tip. In more severe cases, the foreskin does not cover all of the penis, and the penis is bent during an erection. The location of the urethral opening can vary from anywhere along the underside of the penile shaft to the scrotum. It may appear anywhere from a small split to the entire length of the glans. In addition, infants with hypospadias may experience problems with the testicles that may or may not be part of the diagnosis. Some boys will have testicles that do not descend into the scrotum as they should. The undescended testicles can remain in the groin or the abdomen.
It’s important to recognize the symptoms of hypospadias early, so you can have your child treated as soon as possible if necessary. Some babies might need only a minor procedure while others might need multiple procedures between infancy and adolescence. Knowing about these procedures can prepare you for what’s to come and give you a chance to decide whether you want your son to undergo these treatments.
Incomplete closure of the urethra. If your baby has hypospadias, the urethra won’t end at the tip of the penis. It might end on the underside of the shaft, the scrotum, or even further underneath. Some babies with hypospadias have a chordee, which means the penis can curve downward when it becomes erect.
A hooded foreskin. The skin at the head of the penis should connect at the middle on the underside, creating a typical cone shape. This isn’t the case if your child has hypospadias. The penis will appear to be hooded, and the foreskin might not appear to connect to the glans.
If your child has hypospadias, you’ll see distinct signs that something isn’t quite right with his penis. In fact, it can be easy to see if your baby has hypospadias.
The most common signs of hypospadias are:
Making a prompt and accurate diagnosis
In some cases, your child’s doctor may want to test for health conditions that come with hypospadias or that could be mistaken for it. Initial diagnostic tests include imaging studies to evaluate the genitourinary system (abdominal, kidney, and bladder ultrasonography) and other specialized studies may be needed to determine the exact diagnosis and treatment.
Physical examination The diagnosis is obvious on careful physical examination. Often, abnormal sprouting of the urethral folds or abnormal closure of the urogenital membrane suggests the presence of hypospadias. Circumcision may reveal the condition in an infant with hypospadias. The diagnosis of chordee may surface in the newborn period, or it may be detected later, during the work-up for surgical repair of hypospadias or chordee.
Since hypospadias is often evident at birth, no additional diagnostic tests are usually necessary. However, if present, other related medical conditions may need further evaluation in the neonatal period. Your child’s doctor will do a physical examination searching for problems and to help decide the treatment approach.
Some question why we don’t correct the hypospadias when the child is an infant and the penis is small. A small penis has tougher skin and blood vessels and less subcutaneous tissue. To achieve the primary goals of surgery, a surgeon requires a certain amount of prepucial skin. Although free graft material from other areas of the body can be used, it is always better to use skin from the penis when it is available. If there is not enough skin, the meatus will be too far back or the penis may have a poor appearance.
A highly trained surgeon should be the one to perform hypospadias repair. There are a number of surgeries used to correct some of these conditions. The choice of surgery is determined by the location of the meatus, the appearance of the glans in a circumcised vs. not circumcised situation, the adequacy of the foreskin, and the location of the chordee.
Many surgeons repair hypospadias between 6 months of age and 1 year. These are the primary goals of hypospadias repair: straighten the penis, place the urinary meatus at the tip of the penis, and obtain a normal appearance of the glans.
If there are other genital abnormalities involved with the hypospadias, such as a curved penis (called a “chordee”), undescended testicles, or an inguinal hernia, the surgeon may address those issues as well.
Proximal hypospadias: The urethra opens in the area near the scrotum and significant tissue is needed from other areas, such as an area of skin with blood flow (called a “flap graft”) from the inside of the cheek or from the forearm or leg, so a urethra can be reconstructed.
Midshaft (or middistal) hypospadias: The urethra opens above or just below the middle of the shaft and more tissue, such as foreskin or a flap of skin from another area, is needed to create the urethra.
Distal (or subcoronal) hypospadias: The opening of the urethra is in the area where the penis curves and the foreskin must be detached, dissected, and replaced to aid in forming the urethra. The chordee is released and the skin closure is made.
Glandular hypospadias: The opening of the urethra is near or at the head of the penis and the foreskin may seem too long. In a one-stage surgery, the penis is dissected so that the tissues underneath the penis can become the tissues on top of the penis. With the proper care, the glans becomes more defined, the opening is in the proper position, and the glans appears normally developed.
The location of the urethral opening is not the only physical abnormality found with hypospadias. Most – but not all – boys with hypospadias also have the foreskin of the penis that is either too long or too short. This extra tissue may be left alone in some surgeries or it may be used to help reconstruct the urethra. The most common areas of hypospadias and the surgery to correct it are:
The nurse closely observes the site for evidence of urethral strictures or blisters and any irregular urinary flow. The patient and his parent(s) are given complete instructions regarding urethral catheter care, urinary drainage assessment, stool softeners to decrease straining during and after toileting, skin care (after meatal and glans edema has subsided), and the necessary precautions to prevent trauma to the area.
Depending on patient age, the reasons for restrictions are given that the patient can understand; if necessary, restrictions are placed on lower body activities. Dietary and fluid intake considerations are discussed. Emotional support is offered, and the parent(s) is given reassurance that postoperative stress and conflict (including guilt) reactions are to be expected.
Postoperatively, a nurse monitors upper urinary functioning (blood pressure and pulse), daily weight, operative-site urine output and appearance, and urethral flow characteristics. Monitoring sites and dressing are in place. The nurse assesses, irrigates, and documents urine output and appearance every 10 to 20 minutes.
The urinary drainage system is observed for patency. If urine output is not obtained within 2 to 3 hours or there are marked variations in flow characteristics, the surgeon is notified. Pain threshold and comfort level are evaluated in a young child. Administer analgesics, as prescribed, to provide pain relief for the child.
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