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Hypospadias is a common malformation in fetal development of the
penis A penis (; : penises or penes) is a sex organ through which male and hermaphrodite animals expel semen during copulation (zoology), copulation, and through which male placental mammals and marsupials also Urination, urinate. The term ''pen ...
in which the
urethra The urethra (: urethras or urethrae) is the tube that connects the urinary bladder to the urinary meatus, through which Placentalia, placental mammals Urination, urinate and Ejaculation, ejaculate. The external urethral sphincter is a striated ...
does not open from its usual location on the head of the penis. It is the second-most common
birth defect A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...
of the
male reproductive system The male reproductive system consists of a number of sex organs that play a role in the process of human reproduction. These organs are located on the outside of the body, and within the pelvic cavity, pelvis. The main male sex organs are the hu ...
, affecting about one of every 250 males at birth, although when including milder cases, is found in up to 4% of newborn males. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening (the
meatus In anatomy, a meatus (, , : meatus or meatuses)Entry "meatus" in Merriam-Webster Onlin ...
) is on or near the head of the penis (
glans The glans (, : glandes ; from the Latin word for "acorn") is a vascular structure located at the tip of the penis in male mammals or a homologous genital structure of the clitoris in female mammals. Structure The exterior structure of the g ...
). 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 In most terrestrial mammals, the scrotum (: scrotums or scrota; possibly from Latin ''scortum'', meaning "hide" or "skin") or scrotal sac is a part of the external male genitalia located at the base of the penis. It consists of a sac of skin ...
. 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 The development of the urinary system begins during prenatal development, and relates to the development of the urogenital system – both the organs of the urinary system and the sex organs of the reproductive system. The development continues as ...
. In most cases, the
foreskin In male Human body, human anatomy, the foreskin, also known as the prepuce (), is the double-layered fold of Human skin, skin, Mucous membrane, mucosal and Muscle tissue, muscular tissue at the distal end of the human penis that covers the glans ...
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 Chordee is a condition in which the Glans penis, head of the Human penis, penis curves downward or upward, at the junction of the head and Body of penis, shaft of the penis. The curvature is usually most obvious during erection, but resistance to ...
, may occur. Chordee is found in 10% of distal hypospadias and 50% of proximal hypospadias cases at the time of surgery. Also, the scrotum may be higher than usual on either side of the penis (called
penoscrotal transposition Penoscrotal transposition (PST) is a group of congenital defects involving an abnormal spatial arrangement of penis and scrotum In most terrestrial mammals, the scrotum (: scrotums or scrota; possibly from Latin ''scortum'', meaning "hide" ...
). The cause of hypospadias is unknown; scientists have investigated both genetic and environmental mechanisms, such as prenatal hormones. Another model suggests hypospadias arises as a result of unerased epigenetic markers which canalize sexual development. It most often occurs by itself, without other variations, although in about 10% of cases it may be part of
disorder of sex development Disorders of sex development (DSDs), also known as differences in sex development, variations in sex characteristics (VSC), sexual anomalies, or sexual abnormalities, are Congenital disorder, congenital conditions affecting the Human reproductive ...
condition or a medical syndrome with multiple abnormalities. The most common associated difference is an
undescended testicle Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is . It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boy ...
, 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 Congenital adrenal hyperplasia (CAH) is a group of Genetic disorder#Autosomal recessive, autosomal recessive disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the Biosy ...
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. Hypospadias is a mild difference in sex development, but some consider that the presence of hypospadias alone is not enough to classify someone as a person as intersex. In most 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 Human rights are universally recognized Morality, moral principles or Social norm, norms that establish standards of human behavior and are often protected by both Municipal law, national and international laws. These rights are considered ...
violation.


Presentation

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.


Cause


Genes and prenatal hormones

Hypospadias is present at birth, although the cause of hypospadias remains unknown. The influence of genes and the intrauterine environment have been proposed. Sexual differentiation of males and female fetuses occurs under the influence of prenatal sex hormones. In humans, the development of external genitalia occurs in during an early hormone independent phase (5 to 8 weeks of gestation) and a later hormone dependent stage (weeks 8 to 12). One hypothesis proposes that atypical androgen exposure, or interference in the differentiation process, produces hypospadias.


Epigenetic inheritance hypothesis

When one identical twin is born with hypospadias, his 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. In addition, levels of circulating testosterone overlap for both male and female fetuses throughout fetal development. Rice et al. have proposed that sexually dimorphic development occurs through
epigenetic In biology, epigenetics is the study of changes in gene expression that happen without changes to the DNA sequence. The Greek prefix ''epi-'' (ἐπι- "over, outside of, around") in ''epigenetics'' implies features that are "on top of" or "in ...
markers which are laid down during stem cell development, which blunt androgen signalling in XX fetuses, and boost sensitivity in XY fetuses. If this marks 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. A 2022 study found additional evidence of atypical epigenetic methylation in foreskin tissue of hypospadias patients. Rice's model requires further testing with currently available technology to support or falsify it.


Treatment

Where hypospadias is seen as a genital ambiguity in a child, the World Health Organization standard of care is to delay surgery until the child is old enough to participate in informed consent, unless emergency surgery is needed because the child lacks a urinary opening. Hypospadias is not a serious medical condition. A urinary opening that is not surrounded by glans tissue is more likely to "spray" the urine, which can cause a person to sit to urinate because they cannot reliably stand and hit the toilet. Chordee is a separate condition, but where it occurs, the downward curvature of the penis may be enough to make sexual penetration more difficult. For these reasons or others, people with hypospadias may choose to seek
urethroplasty Urethroplasty is the surgical repair of an injury or defect within the walls of the urethra. Trauma, iatrogenic injury and infections are the most common causes of urethral injury/defect requiring repair. Urethroplasty is regarded as the gold st ...
, a surgical extension of the urethra using a skin graft. Surgery can extend the urinary channel to the end of the penis, straighten bending, and/or change the foreskin (by either
circumcision Circumcision is a procedure that removes the foreskin from the human penis. In the most common form of the operation, the foreskin is extended with forceps, then a circumcision device may be placed, after which the foreskin is excised. T ...
or by altering its appearance to look more typical ("
preputioplasty Preputioplasty or prepuce plasty, also known as limited dorsal slit with transverse closure, is a plastic surgical operation on the prepuce or foreskin of the penis, to widen a narrow non-retractile foreskin which cannot comfortably be drawn back ...
")), depending on the desire of the patient. Urethroplasty failure rates vary enormously, from around 5% for the simplest repairs to damage in a normal urethra by an experienced surgeon, to 15-20% when a buccal graft from the inside of the mouth can be used to extend a urethra, to close to 50% when graft urethral tubes are constructed from other skin. When the hypospadias is extensive–third degree/penoscrotal–or has associated differences in sex development such as chordee or
cryptorchidism Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is . It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boy ...
, 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 A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by de ...
and
endocrine The endocrine system is a messenger system in an organism comprising feedback loops of hormones that are released by internal glands directly into the circulatory system and that target and regulate distant organs. In vertebrates, the hypotha ...
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 Small means of insignificant size Size in general is the Magnitude (mathematics), magnitude or dimensions of a thing. More specifically, ''geometrical size'' (or ''spatial size'') can refer to three geometrical measures: length, area, or ...
,
testosterone Testosterone is the primary male sex hormone and androgen in Male, males. In humans, testosterone plays a key role in the development of Male reproductive system, male reproductive tissues such as testicles and prostate, as well as promoting se ...
or
human chorionic gonadotropin Human chorionic gonadotropin (hCG) is a hormone for the maternal recognition of pregnancy produced by trophoblast cells that are surrounding a growing embryo (syncytiotrophoblast initially), which eventually forms the placenta after implantat ...
(hCG) injections may be given with consent to enlarge it before surgery if this will increase the chance of a successful urethral repair. Surgical repair of severe hypospadias may require multiple procedures and
mucosal A mucous membrane or mucosa is a membrane that lines various cavities in the body of an organism and covers the surface of internal organs. It consists of one or more layers of epithelial cells overlying a layer of loose connective tissue. It is ...
grafting Grafting or graftage is a horticulture, horticultural technique whereby tissues of plants are joined so as to continue their growth together. The upper part of the combined plant is called the scion () while the lower part is called the roots ...
. Preputial skin is often used for grafting and circumcision should be avoided before repair. In patients with severe hypospadias, surgery often produces unsatisfactory results, such as
scar A scar (or scar tissue) is an area of fibrosis, fibrous tissue that replaces normal skin after an injury. Scars result from the biological process of wound repair in the skin, as well as in other Organ (anatomy), organs, and biological tissue, t ...
ring, curvature, or formation of urethral
fistula In anatomy, a fistula (: fistulas or fistulae ; from Latin ''fistula'', "tube, pipe") is an abnormal connection (i.e. tube) joining two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other h ...
s,
diverticula In medicine or biology, a diverticulum is an outpouching of a hollow (or a fluid-filled) structure in the body. Depending upon which layers of the structure are involved, diverticula are described as being either true or false. In medicine, t ...
, or strictures. A fistula is an unwanted opening through the skin along the course of the urethra, and can result in urinary leakage or an abnormal stream. A diverticulum is an "outpocketing" of the lining of the urethra which interferes with urinary flow and may result in posturination leakage. A stricture is a narrowing of the urethra severe enough to obstruct flow. Reduced complication rates even for third-degree repair (e.g., fistula rates below 5%) have been reported in recent years from centers with the most experience. 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 Warren Snodgrass is a pediatric urologist specializing in the repair of hypospadias, the second most common birth defect. In 1994 he described the tubularized incised plate (TIP) repair of hypospadias, which has become known as the Snodgrass rep ...
), 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%. Alternatively, the urinary channel can be reconstructed using the foreskin, with reported success in from 55% to 75%. 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. 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


Outcomes

Problems that can arise include a small hole in the urinary channel below the meatus, called a
fistula In anatomy, a fistula (: fistulas or fistulae ; from Latin ''fistula'', "tube, pipe") is an abnormal connection (i.e. tube) joining two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other h ...
. 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 Urethral meatal stenosis is a narrowing (stenosis) of the opening of the urethra at the external meatus , thus constricting the opening through which urine leaves the body from the urinary bladder. Symptoms and signs * Visible narrow opening a ...
, 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 In medicine or biology, a diverticulum is an outpouching of a hollow (or a fluid-filled) structure in the body. Depending upon which layers of the structure are involved, diverticula are described as being either true or false. In medicine, t ...
. 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. Due to variations in the reporting requirements of different national databases, data from such registries cannot be used to accurately determine either incidence of hypospadias or geographical variations in its occurrences.


Adults

While most hypospadias repairs are done in childhood, occasionally, an adult desires surgery because of urinary spraying or unhappiness with the appearance. A direct comparison of surgical results in children versus adults found they had the same outcomes, and adults can undergo hypospadias repair or reoperations with good expectations for success.


Society and culture

Notable individuals with hypospadias: *
Henry II of France Henry II (; 31 March 1519 – 10 July 1559) was List of French monarchs#House of Valois-Angoulême (1515–1589), King of France from 1547 until his death in 1559. The second son of Francis I of France, Francis I and Claude of France, Claude, Du ...
*
Tiger Devore Tiger Devore, previously known as Howard Devore and Tiger Howard Devore, is an American clinical psychologist, sex therapist, and spokesperson on intersex issues. He was a member of the defunct Intersex Society of North America. Historian Alice D ...
*
Gabriel J. Martín Gabriel José Martín Martín (San Fernando, Cádiz, San Fernando, July 12, 1971) is a Spanish gay and intersex psychologist, writer and activist. Personal life When he was born, Gabriel J. Martín was assigned a Female, female sex due to the a ...
Intersexualidad: «Nunca me sentí niña y mi comportamiento masculino era un problema».
''ABC''. 20 October 2014.

''El País''. 30 June 2016.
* Scout Schultz *
Lil Dicky David Andrew Burd (born March 15, 1988), better known by his stage name Lil Dicky, is an American rapper, singer, comedian, and actor. He first received recognition after the music video for his 2013 song, "Ex-Boyfriend" became a viral video, v ...
* Sa Bangji


See also

*
Pediatric urology Pediatric urology is a surgical subspecialty of medicine dealing with the disorders of children's genitourinary systems. Pediatric urologists provide care for both boys and girls ranging from birth to early adult age. The most common problems are ...
*
Andrology Andrology (from , ''anēr'', genitive , ''andros'' 'man' and , ''-logy, -logia'') is a name for the medicine, medical specialty that deals with male health, particularly relating to the problems of the male reproductive system and urology, urologi ...
*
Bladder exstrophy Bladder exstrophy is a congenital anomaly that exists along the spectrum of the exstrophy-epispadias complex, and most notably involves protrusion of the urinary bladder through a defect in the abdominal wall. Its presentation is variable, ofte ...
,
cloacal exstrophy A cloaca ( ), : cloacae ( or ), or vent, is the rear orifice that serves as the only opening for the digestive (rectum), reproductive, and urinary tracts (if present) of many vertebrate animals. All amphibians, reptiles, birds, cartilaginou ...
* Pseudovaginal perineoscrotal hypospadias *
Intersex surgery Intersex medical interventions (IMI), sometimes known as intersex genital mutilations (IGM), are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for t ...
*
Androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY (karyotype, karyotypically male) births. The condition result ...
*
Testicular dysgenesis syndrome Testicular dysgenesis syndrome (TDS) is a hypothesized male reproduction-related condition characterized by the presence of symptoms and disorders such as hypospadias, cryptorchidism, poor semen quality, and testicular cancer. The concept was fir ...


References


Further reading

* * * * * *


External links

{{Authority control Congenital disorders of urinary system Congenital disorders of male genital organs Penis Intersex variations