thumb|Urethral variations in a penis
Hypospadias is a common malformation in fetal development, most commonly noticed in penises, in which the urethra does not open from its usual location on the head of the penis, or the middle of the vulva.
It is the second-most common birth defect of the male reproductive system, affecting about one of every 250 males at birth, although when including milder cases, is found in up to 4% of newborn males. No studies have been done to estimate the percentage of hypospadias in newborn females.
Roughly 90% of male cases are the less serious distal hypospadias, in which the urethral opening (the meatus) is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue or anything that typically forms the urethra instead extends from the meatus to the tip of the glans; this tissue is called the urethral plate.
thumb|Urethral variations in a vulva
In most cases, the foreskin is less developed and does not wrap completely around the penis, leaving the underside of the glans uncovered. Also, a downward bending of the penis, commonly referred to as chordee, may occur. Chordee is found in 10% of distal hypospadias cases at the time of surgery. Also, the scrotum may be higher than usual on either side of the penis (called penoscrotal transposition).
The cause of hypospadias is unknown; scientists have investigated both genetic and environmental mechanisms, such as prenatal hormones.
The most common associated difference is an undescended testicle, which has been reported in around 3% of infants with distal hypospadias and 10% with proximal hypospadias. The combination of hypospadias and an undescended testicle sometimes indicates a child has a difference of sex development condition, so additional testing may be recommended to make sure the child does not have congenital adrenal hyperplasia with or a similar condition where immediate medical intervention is needed. Otherwise no blood tests or X-rays are routinely needed in newborns with hypospadias.
thumb|232x232px|Picture of a spread female vulva with severe hypospadias. The urethral opening is much lower than normal, almost inside the vagina.
Hypospadias is a mild difference in sex development, but some consider that the presence of hypospadias alone is not enough to classify someone as intersex, while others argue that it is. In some cases, hypospadias is not associated with any other condition. Hypospadias is considered as an intersex condition by several intersex rights activist groups, who consider the repositioning of a working urethra on a child too young to consent to be a human rights violation.
Presentation
thumb|Genitalia showing major [[genital undermasculinization and hypospadias]]
A penis with hypospadias usually has a characteristic appearance. Not only is the meatus (urinary opening) lower than usual, but the foreskin is also often only partially developed, lacking the usual amount that would cover the glans on the underside, causing the glans to have a hooded appearance. However, newborns with partial foreskin development do not necessarily have hypospadias, as some have a meatus in the usual place with a hooded foreskin, called "chordee without hypospadias".
In other cases, the foreskin (prepuce) is typical and the hypospadias is concealed. This is called "megameatus with intact prepuce". The condition is discovered during newborn circumcision or later in childhood when the foreskin begins to retract. A newborn with typical-appearing foreskin and a straight penis who is discovered to have hypospadias after the start of circumcision can have circumcision completed without concern for jeopardizing hypospadias repair.
Complications
There is noted to be an increase in erectile problems in people with hypospadias, particularly when associated with a chordee (down curving of the shaft). There is usually minimal interaction with ability to ejaculate in hypospadias providing the meatus remains distal. This can also be affected by the coexistence of posterior urethral valves. There is an increase in difficulties associated with ejaculation, however, including increased rate of pain on ejaculation and weak/dribbling ejaculation. The rates of these problems are the same regardless of whether or not the hypospadias is surgically corrected.
Epigenetic inheritance hypothesis
When one identical twin is born with hypospadias, the other identical twin also has the trait only 25% of the time, despite sharing their genes and prenatal hormonal environment. Animal studies have found that androgen antagonists during early fetal development cause elevated rates of hypospadias and cryptorchidism, however, in humans these traits rarely occur together. If these markers are sexually antagonistic, and if a subset of these epigenetic marks carry over generations, they are expected to produce mosaicism of sexual development in opposite-sex offspring, sometimes producing hypospadias or cryptorchidism when passed from a mother to son (feminizing the external genitalia). Two small sample studies in 2012 and 2013 found changes in the transcriptome and methylome of hypospadias patients. Rice's model requires further testing with currently available technology to support or falsify it.
When the hypospadias is extensive–third degree/penoscrotal–or has associated differences in sex development such as chordee or cryptorchidism, the best management can be a more complicated decision. The world standard (UN and WHO) forbids nonessential surgery to produce a "normal" appearance without the informed consent of the patient, and the American Academy of Pediatrics currently recommends but does not require the same standard. The AAP Textbook of Pediatric Care states "Gender assignment in patients with genital ambiguity should be made only after careful investigation by a multidisciplinary team; increasingly, surgical decisions are delayed until the child is able to participate in the decision-making process." A karyotype and endocrine evaluation should be performed to detect intersex conditions or hormone deficiencies that have major health risks (i.e. salt-wasting). If the penis is small, testosterone or human chorionic gonadotropin (hCG) injections may be given with consent to enlarge it before surgery if this will increase the chance of a successful urethral repair. However, typical complications in urethroplasty for severe hypospadias can lead to long surgical cycles of failure and repair, and side effects may include loss of sexual or urinary function. Research suggests failure rates are higher when urethroplasty corrects a born condition rather than disease or injury so patients and families considering surgery for hypospadias should have realistic expectations about the risks and benefits.
Age at surgery
The results of surgery are probably not influenced by the age at which repair is done. Teens and adults typically spend one night in the hospital after surgery.
Preoperative hormones
Hormones potentially increase the size of the penis, and have been used in children with proximal hypospadias who have a smaller penis. Numerous articles report testosterone injections or topical creams increase the length and circumference of the penis. However, few studies discuss the impact of this treatment on the success of corrective surgery, with conflicting results.
Surgery
Surgery is not always required for minor hypospadias like glanular hypospadias and coronal hypospadias if the meatus is of good caliber, urine flow is in good stream & forwardly directed.
Hypospadias repair is done under general anesthesia, most often supplemented by a nerve block to the penis or a caudal block to reduce the general anesthesia needed, and to minimize discomfort after surgery.
Many techniques have been used during the past 100 years to extend the urinary channel to the desired location. Today, the most common operation, known as the tubularized incised plate or "TIP" repair, rolls the urethral plate from the low meatus to the end of the glans. TIP repair, also called the Snodgrass Repair (after the creator of the method, Warren Snodgrass), is the most widely used procedure and surgical method for hypospadias repair worldwide. This procedure can be used for all distal hypospadias repairs, with complications afterwards expected in less than 10% of cases.
Less consensus exists regarding proximal hypospadias repair. TIP repair can be used when the penis is straight or has mild downward curvature, with success in 85%.
Most distal and many proximal hypospadias are corrected in a single operation. However, those with the most severe condition having a urinary opening in the scrotum and downward bending of the penis are often corrected in a two-stage operation. During the first operation the curvature is straightened. At the second, the urinary channel is completed. Any complications may require additional interventions for repair.
<gallery>
File:Hypospadias3.jpg|Example of penis with hypospadias
File:Hypospadie Fisteln.jpg|Penis with hypospadias (1) and two fistulae (2)
File:Penis with Hypospadias. 01.jpg|Adult penis with hypospadias
File:Penis with Hypospadias. 02.jpg|Adult penis with hypospadias
File:Penis with repaired hypospadias2.jpg | Glans penis with hypospadias repaired as an adult
File:Penis with repaired hypospadias.jpg | Penis with hypospadias repaired as an adult
File:Erect penis with fully shaved pubic hair.jpg | Penis with hypospadias repaired as an adult - side view
</gallery>
Outcomes
Problems that can arise include a small hole in the urinary channel below the meatus, called a fistula. The head of the penis, which is open at birth in children with hypospadias and is closed around the urinary channel at surgery, sometimes reopens, known as glans dehiscence. The new urinary opening can scar, resulting in meatal stenosis, or internal scarring can create a stricture, either of which cause partial blockage to urinating. If the new urinary channel balloons when urinating a child is diagnosed with a diverticulum.
Most complications are discovered within six months after surgery, although they occasionally are not found for many years. In general, when no problems are apparent after repair in childhood, new complications arising after puberty are uncommon. However, some problems that were not adequately repaired in childhood may become more pronounced when the penis grows at puberty, such as residual penile curvature or urine spraying due to rupture of the repair at the head of the penis.
Complications are usually corrected with another operation, most often delayed for at least six months after the last surgery to allow the tissues to heal sufficiently before attempting another repair. Results when circumcision or foreskin reconstruction are done are the same. (Figure 4a, 4b)
Patients and surgeons had differing opinions as to outcomes of hypospadias repair, that is, patients might not be satisfied with a cosmetic result considered satisfactory by the surgeon, but patients with a cosmetic result considered not very satisfactory by the surgeon may themselves be satisfied. Overall, patients were less satisfied than surgeons.
Living with hypospadias can present challenging emotional obstacles. Many men, whether they have had surgical repair of their hypospadias as a child or not often are very guarded in school bathrooms or locker rooms. Secrecy about the condition can complicate emotional pain, because talking about the penis is often a taboo subject. Worry, anxiety and feelings of shame are common among adult men born with hypospadias.
Epidemiology
Hypospadias is among the most common birth defects in the world and is said to be the second-most common birth defect in the male reproductive system, occurring once in every 250 males. At birth, it may affect as many as 1% of males, although prevalence may vary by country. When including milder cases, as many as 4% of males are affected.
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See also
- Pediatric urology
- Andrology
- Bladder exstrophy, cloacal exstrophy
- Pseudovaginal perineoscrotal hypospadias
- Intersex surgery
- Androgen insensitivity syndrome
- Testicular dysgenesis syndrome