Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urethral meatus (opening). Instead of opening at the tip of the glans of the penis, a hypospadic urethra opens anywhere along a line (the urethral groove) running from the tip along the underside (ventral aspect) of the shaft to the junction of the penis and scrotum or perineum. A distal hypospadias may be suspected even in an uncircumcised boy from an abnormally formed foreskin and downward tilt of the glans. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... In anatomy, the urethra is a tube which connects the urinary bladder to the outside of the body. ... The shield and spear of the Roman god Mars, which is also the alchemical symbol for iron, represents the male sex. ... In anatomy, a meatus is a natural body opening or canal (pl. ... glans Well known Street Art artist from Copenhagen, Denmark. ... The penis (plural penises, penes) is an external male sexual organ. ... In some male mammals, the scrotum is a protuberance of skin and muscle containing the testicles. ... In human anatomy, the perineum also known in slang as taint, grundle, chode, or gooch is generally defined as the surface region in both males and females between the pubic symphysis and the coccyx. ... This article is about male circumcision. ... The foreskin or prepuce (a technically broader term that also includes the clitoral hood, the homologous structure in women) is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. ...

The urethral meatus opens on the glans penis in about 50-75% of cases; these are categorized as first degree hypospadias. Second degree (when the urethra opens on the shaft), and third degree (when the urethra opens on the perineum) occur in up to 20 and 30% of cases respectively. The more severe degrees are more likely to be associated with chordee, in which the phallus is incompletely separated from the perineum or is still tethered downwards by connective tissue, or with undescended testes (cryptorchidism). The glans penis (or simply glans) is the pressure sensitive tip of the penis. ... Chordee is a condition in which the penis curves downwards (that is, in a ventral direction) during erection. ... Cryptorchidism is a medical term referring to absence from the scrotum of one or both testes. ...

Incidence

Hypospadias are among the most common birth defects of the male genitalia (second to cryptorchidism), but widely varying incidences have been reported from different countries, from as low as 1 in 4000 to as high as 1 in 125 boys. Cryptorchidism is a medical term referring to absence from the scrotum of one or both testes. ...

There has been some evidence that the incidence of hypospadias around the world has been increasing in recent decades. In the United States, two surveillance studies reported that the incidence had increased from about 1 in 500 total births (1 in 250 boys) in the 1970s to 1 in 250 total births (1 in 125 boys) in the 1990s. Although a slight worldwide increase in hypospadias was reported in the 1980s, studies in different countries and regions have yielded conflicting results and some registries have reported decreases.

Causes

Most hypospadias are sporadic, without inheritance or family recurrence. For most cases, no cause can be identified though a number of hypotheses related to inadequate androgen effect, or environmental agents interfering with androgen effect, have been offered. Among the suspected environmental agents have been various chemicals, sometimes termed endocrine disruptors, that interact with steroid receptors. Putative endocrine disruptors include phthalates, DDT, and PCB. A recent questionnaire study of mothers who bore infants with hypospadias reported fivefold higher risk association with vegetarian diet (with plant phytoestrogens the hypothetical link) during pregnancy, and weaker associations with iron supplementation or influenza during early pregnancy ^[1]. The associations are as yet uncorroborated by additional surveys or other methods. Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... Endocrine disruptors are substances which interfere with the endocrine system by mimicking, blocking or otherwise disrupting the function of hormones. ... R,R=CnH2n+1; n=4-15 Phthalates are a group of chemical compounds that are mainly used as plasticizers -- substances added to plastics to increase their flexibility. ... DDT or Dichloro-Diphenyl-Trichloroethane is the first modern pesticide and is one of the best known synthetic pesticides. ... PCB may refer to: Brazilian Communist Party (in Portuguese, Partido Comunista Brasileiro) Communist Party of Bolivia (in Spanish, Partido Comunista de Bolivia) Pakistan Cricket Board PCB Piezotronics PCBoard, a bulletin board system software Police Complaints Board, which oversaw the system for handling complaints made against police forces in England and... Vegetarian cuisine is cookery of food that meets vegetarian principles. ... Phytoestrogens are plant compounds with effects similar to those of estrogen, although somewhat weaker. ... For other uses, see Iron (disambiguation). ... Influenza, commonly known as flu, is an infectious disease of birds and mammals caused by an RNA virus of the family Orthomyxoviridae (the influenza viruses). ...

Prenatal testosterone, converted in the genital skin to dihydrotestosterone, causes migration of skin fibroblasts to fully enclose the urethral groove in fetal males, normally resulting in an enclosed penile urethra by the second trimester of pregnancy. Failure of adequate prenatal androgen effect is therefore thought to be involved in many cases, making hypospadias a very mild form of intersex (undervirilization of a genetic male). Since postnatal androgen deficiency can only be demonstrated in a minority of cases, it has been proposed that transient deficiency of testosterone can occur during critical periods of fetal genital development, due to elevation of anti-müllerian hormone or more subtle degrees of pituitary-gonadal dysfunction. More recently, abnormalities of transcription factors have been proposed. Testosterone is a steroid hormone from the androgen group. ... For other uses, see DHT (disambiguation). ... Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... In biology and medicine, virilization refers to the development of changes which make a male body different from a female body. ... Anti-Müllerian hormone (AMH) is a dimeric glycoprotein that inhibits the development of the Müllerian ducts in a male embryo. ... In molecular biology, a transcription factor is a protein that binds DNA at a specific promoter or enhancer region or site, where it regulates transcription. ...

In animals, several teratogenic drugs or chemicals can cause hypospadias by interfering with androgen action in the embryo. Speculation that environmental agents-- endocrine disruptors-- might be interfering with human hormone systems has not been proven. The agents that have caused hypospadias in a small number of boys have been maternal use of synthetic progestins and finasteride in the first two trimesters of pregnancy. In 2002, it was suggested that maternal use of diethylstilbestrol, a synthetic estrogen, resulted in a 20-fold increase in prevalence of hypospadias^[2] although a followup study showed the risk, though present, to be much lesser. ^[3] Teratogenesis is a medical term from the Greek, literally meaning monster making. ... This article does not cite any references or sources. ... Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... Endocrine disruptors are substances which interfere with the endocrine system by mimicking, blocking or otherwise disrupting the function of hormones. ... A progestin is a synthetic progestagen. ... Finasteride (marketed as Proscar, Propecia, Fincar, Finpecia, Finax, Finast, Finara, Finalo, Prosteride, Gefina, Finasterid IVAX) is an antiandrogen which acts by inhibiting type II 5-alpha reductase, the enzyme that converts testosterone to dihydrotestosterone (DHT). ... Diethylstilbestrol (DES) is a drug, a synthetic nonsteroidal estrogen that was first synthesized in 1938. ... Estriol. ...

In a minority of cases a postnatal deficiency of, or reduced sensitivity to, androgens (testosterone and dihydrotestosterone) can be demonstrated. These are often associated with a chordee, and in severe cases a residual perineal urogenital opening and small phallus. This combination of birth defects is referred to as pseudovaginal perineoscrotal hypospadias and is part of the spectrum of ambiguous genitalia. Treatment with testosterone postnatally does not close the urethra. Androgen is the generic term for any natural or synthetic compound, usually a steroid hormone, that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. ... Testosterone is a steroid hormone from the androgen group. ... For other uses, see DHT (disambiguation). ... Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ...

Genetic factors are likely involved in at least some cases, as there is about a 7% familial recurrence risk.

Rare iatrogenic urethral injuries similar to hypospadias after procedures such as surgery, catheterization, or circumcision have been reported.

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Treatment

First degree hypospadias are primarily a cosmetic defect and have little effect on function except for direction of the urinary stream. If uncorrected, a second or third degree hypospadias can make male urination messy, necessitate that it be performed sitting, impair delivery of semen into the vagina (possibly creating problems with fertility), or interfere with erections. In developed countries, most hypospadias are surgically repaired in infancy. Surgical repair of first and second degree hypospadias is nearly always successful in one procedure, usually performed in the first year of life by a pediatric urologist or a plastic surgeon. Manneken Pis of Brussels. ... Fertility is the natural capability of giving life. ... The erection of the penis, clitoris or a nipple is its enlarged and firm state. ... Pediatric urology is a surgical subspecialty of medicine dealing with the disorders of childrens genitourinary systems. ... Plastic surgery is a general term for operative manual and instrumental treatment which is performed for functional or aesthetic reasons. ...

When the hypospadias is third degree, or there are associated birth defects such as chordee or cryptorchidism, the best management can be a more complicated decision. A karyotype and endocrine evaluation should be performed to detect intersex conditions or hormone deficiencies. If the penis is small, testosterone or human chorionic gonadotropin (hCG) injections may be given to enlarge it prior to surgery. Chordee is a condition in which the penis curves downwards (that is, in a ventral direction) during erection. ... Cryptorchidism is a medical term referring to absence from the scrotum of one or both testes. ... Karyogram of human male using Giemsa staining. ... Pediatric endocrinology is a medical subspecialty dealing with variations of physical growth and sexual development in childhood, as well as diabetes and other disorders of the endocrine glands. ... This article does not cite any references or sources. ... Testosterone is a steroid hormone from the androgen group. ... Human chorionic gonadotropin (hCG) is a peptide hormone produced in pregnancy, that is made by the embryo soon after conception and later by the syncytiotrophoblast (part of the placenta). ...

Surgical repair of severe hypospadias may require multiple procedures and mucosal grafting. Preputial skin is often used for grafting and circumcision should be avoided prior to repair. In a minority of patients with severe hypospadias surgery produces unsatisfactory results, such as scarring, curvature, or formation of urethral fistulas, diverticula, 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 post-urination 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, and surgical repair is now performed for the vast majority of infants with hypospadias. The mucous membranes (or mucosae; singular: mucosa) are linings of mostly endodermal origin, covered in epithelium, and are involved in absorption and secretion. ... Skin Graft is an influential contemporary no wave, noise rock, art punk, rock label based in Chicago. ... This article does not cite any references or sources. ... In medicine, a fistula (pl. ... A diverticulum (plural: diverticula) is medical term for an outpouching of a hollow (or a fluid filled) structure in the body. ...

Because of the difficulties and lower success rates of surgical repair of the most severe degrees of under virilization, some of these genetically male but severely undervirilized infants have been assigned and raised as girls, with feminizing surgical reconstruction. Opinion has shifted against this approach in the last decade because adult sexual function as a female has often been poor, and development of a male gender identity despite female sex assignment and rearing, has occurred in some XY children after reassignment for a more severe type of genital birth defect, cloacal exstrophy. In biology and medicine, virilization refers to the development of changes which make a male body different from a female body. ... Intersex surgery is one of several terms referring to surgery performed to correct birth defects or early injuries of the genitalia, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems. ... This does not cite any references or sources. ... Sex assignment refers to the assigning of sex at the birth of a baby. ... Gender of rearing is the gender in which parents rear a child. ... Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. ...

• Hypospadias Surgery: urether graft technique; Camillo Il Grande ( 2007 )

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Associated birth defects

Mild hypospadias most often occurs as an isolated birth defect without detectable abnormality of the remainder of the reproductive or endocrine system. However, a minority of infants, especially those with more severe degrees of hypospadias will have additional structural anomalies of the genitourinary tract. Up to 10% of boys with hypospadias have at least one undescended testis, and a similar number have an inguinal hernia. An enlarged prostatic utricle is common when the hypospadias is severe (scrotal or perineal), and can predispose to urinary tract infections, pseudo-incontinence, or even stone formation. Human male anatomy The testicles, known medically as testes (singular testis), are the male generative glands in animals. ... The introduction to this article provides insufficient context for those unfamiliar with the subject matter. ... A urinary tract infection (UTI) is a bacterial infection that affects any part of the urinary tract. ... The tone or style of this article or section may not be appropriate for Wikipedia. ... Kidney stones are solid accretions (crystals) of dissolved minerals in urine found inside the kidneys or ureters. ...

Epispadias

A much rarer and unrelated type of urethral malformation is an epispadias. This is not a problem of the urethral groove or meatus, but a failure of midline penile fusion much earlier in embryogenesis. An isolated opening of the dorsal ("top") side of the penis is rare, and most of these children have much more severe defects, involving a small and bifid phallus with bladder exstrophy or more severely, cloacal exstrophy involving the entire perineum. The cause of this defect of early embryogenesis is unknown but does not involve androgens. Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urethral meatus (opening). ... Bladder exstropy, more properly, the exstrophy-epispadias complex is a rare congenital anomaly occurring once every 40,000-50,000 live births with a 2:1 male:female ratio. ... Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. ...

See also

• pediatric urology
• andrology
• cryptorchidism
• bladder exstrophy, cloacal exstrophy
• perineal urethra, pseudovaginal perineoscrotal hypospadias
• ambiguous genitalia, intersex, intersex surgery
• androgen insensitivity syndrome

Pediatric urology is a surgical subspecialty of medicine dealing with the disorders of childrens genitourinary systems. ... Andrology (from the Greek andros, man) is the medical specialty that deals with male health, particularly relating to the problems of the male reproductive system and urological problems that are unique to men. ... Cryptorchidism is a medical term referring to absence from the scrotum of one or both testes. ... Bladder exstropy, more properly, the exstrophy-epispadias complex is a rare congenital anomaly occurring once every 40,000-50,000 live births with a 2:1 male:female ratio. ... Cloacal exstrophy is a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed. ... A perineal urethra is a human urethral opening that is located on the perineum rather than at the tip of the phallus. ... Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... An intersexual is a person (or individual of any unisexual species) who is born with genitalia and/or secondary sexual characteristics of indeterminate sex, or which combine features of both sexes. ... Intersex surgery is one of several terms referring to surgery performed to correct birth defects or early injuries of the genitalia, primarily for the purposes of making the appearance more normal and to reduce the likelihood of future problems. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ...

References

A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era. ... is the 68th day of the year (69th in leap years) in the Gregorian calendar. ... The Lancet is one of the oldest and most respected peer-reviewed medical journals in the world, published weekly by Elsevier, part of Reed Elsevier. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era. ... is the 114th day of the year (115th in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era. ... is the 114th day of the year (115th in leap years) in the Gregorian calendar. ...

External links

• International Trends in Rates of Hypospadias and Cryptorchidism
• The Hypospadias and Epispadias Association, for families affected by these congenital penile differences.
• Review of scientific papers describing the physical and psychological implications and consequences of hypospadias.

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Hypospadias