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Genital Birth Defects

By

Ronald Rabinowitz

, MD, University of Rochester Medical Center;


Jimena Cubillos

, MD, University of Rochester School of Medicine and Dentistry

Reviewed/Revised Aug 2022 | Modified Sep 2023
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Topic Resources

Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female or male.

  • Genital defects may be caused by abnormal levels of sex hormones during fetal development, chromosome abnormalities, environmental factors, or inherited factors.

  • Sometimes the genitals are not clearly male or female (ambiguous genitals), which is most common in girls with congenital adrenal hyperplasia.

  • To determine the sex of an infant who has ambiguous genitals, a physical examination, imaging tests, and blood tests to analyze chromosomes and measure hormone levels are done.

  • Many genital defects require surgery.

  • Parents have many factors to consider before assigning a gender to a baby born with ambiguous genitals.

Causes of Genital Birth Defects

Male and female sex organs develop from similar tissue in the embryo. Whether this tissue develops into male or female sex organs depends on a number of things. One factor is the sex chromosomes Sex chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more Sex chromosomes , which are called X and Y. Normal males have one X and one Y chromosome. Normal females have two X chromosomes. Early in development, a fetus with a Y chromosome begins developing testes, which secrete the male hormone testosterone. Testosterone activates pathways that cause development of the scrotum, penis Structure of the Male Reproductive System The male reproductive system includes the penis, scrotum, testes, epididymis, vas deferens, prostate, and seminal vesicles. The penis and the urethra are part of the urinary and reproductive... read more , and penile urethra Urethra Urethra (the urine passage through the penis). Without testosterone (as in a normal female fetus), the genitals become the clitoris Female External Genital Organs , labia majora Female External Genital Organs , and separate vaginal and urethral canals. In addition to testosterone, there are other substances made by the developing fetus that help control genital development.

Factors that can interfere with normal development of the genitals include

In many of these factors, the common problem is abnormal levels of sex hormones in the fetus before birth, particularly having too much testosterone (or testosterone-like substances) in girls and too little testosterone in boys.

Sometimes, the disorder that causes genital defects also results in defects of other organs.

Symptoms of Genital Birth Defects

Sometimes genitals appear abnormal but are still apparently male or female. Such defects in boys Male Genital Defects Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female... read more Male Genital Defects include abnormalities of the urethral opening (for example, being located on the bottom or, less often, the top of the penis), an abnormally shaped penis (chordee Chordee Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female... read more Chordee ), and an undescended testis Undescended testes Undescended testes (cryptorchidism) are testes that remain in the abdomen or the groin instead of descending into the scrotum. Retractile testes (hypermobile testes) have descended into the... read more Undescended testes . Defects in girls Female Genital Defects Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female... read more Female Genital Defects include a hymen that has no opening (imperforate hymen Imperforate hymen Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female... read more Imperforate hymen ) and a missing or shortened vagina.

Other defects result in genitals that are not clearly male or female. These are called ambiguous genitals. The most common cause of ambiguous genitals is in girls who have congenital adrenal hyperplasia Congenital adrenal hyperplasia Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female... read more Congenital adrenal hyperplasia . Congenital adrenal hyperplasia is an inherited problem with the adrenal glands Overview of the Adrenal Glands The body has 2 adrenal glands, one near the top of each kidney. They are endocrine glands, which secrete hormones into the bloodstream. Each adrenal gland has 2 parts. Medulla: The inner part... read more that causes the glands to produce too much testosterone (the adrenal glands naturally produce a small amount of testosterone in healthy girls).

Children who have genital defects may have problems urinating. Later, people may have difficulties engaging in sexual intercourse, impaired fertility, social and psychologic problems, or a combination.

Did You Know...

  • Children may be born with genitals that are not clearly male or female. These are called ambiguous genitals.

Diagnosis of Genital Birth Defects

  • Physical examination

  • Sometimes imaging tests, such as ultrasonography and magnetic resonance imaging

  • Sometimes blood tests to analyze the chromosomes and hormone levels

Doctors usually do blood tests to see what sex chromosomes the infant has and to measure hormone levels.

Treatment of Genital Birth Defects

  • For genital defects, surgery

  • For ambiguous genitals, sometimes gender assignment surgery and hormones

Most children who have genital defects need surgery to correct the defects. Some minor defects do not need surgery.

Regarding children with ambiguous genitals, children's sex chromosomes (that is, whether they are a genetic female with XX chromosomes or a genetic male with XY chromosomes) are an important factor, but other things also must be considered. For example, the hormones the fetus was exposed to in the uterus can have a significant effect. However, this effect may not be apparent until children are old enough to begin acting like one gender or another or to think of themselves as one gender or another (gender identity Gender Identity Sex refers to biological characteristics (such as genitals, chromosomes, and hormones) used to categorize a person as male or female sex. Gender identity is how people see themselves, whether... read more ).

Because children's behavior and gender identity do not always match their genetic gender, it is important not to make the gender assignment too soon. Waiting is not harmful because it is not essential to assign a gender during infancy. A multidisciplinary care team that includes the pediatrician, endocrinologists (specialists in hormone disorders), geneticists, urologists, and possibly psychiatrists can advise parents facing this challenging decision.

When appropriate and indicated, surgery is done and children are given hormones. Children may need to take hormones for the rest of their life.

Female Genital Defects

There are several causes of female genital defects, but most involve abnormal levels of sex hormones in the fetus before birth.

Some genital birth defects in girls include

Rarely, the vagina may be missing or shortened.

External Female Genital Organs

External Female Genital Organs

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is the most common cause of ambiguous genitals in girls. Congenital adrenal hyperplasia is an inherited disorder of the adrenal glands Overview of the Adrenal Glands The body has 2 adrenal glands, one near the top of each kidney. They are endocrine glands, which secrete hormones into the bloodstream. Each adrenal gland has 2 parts. Medulla: The inner part... read more (the adrenals are glands located on the top of each kidney that secrete several types of hormones). In this disorder, the glands are missing enzymes that help produce certain life-sustaining hormones, such as cortisol. Instead, the chemical building blocks that the glands use to make the cortisol are turned into male hormones, such as testosterone.

In infant girls, this build-up of testosterone causes them to develop male sexual characteristics (virilization Virilization Virilization is the development of exaggerated masculine characteristics, usually in women, often as a result of the adrenal glands overproducing androgens (male sex steroid hormones such as... read more ). Infant girls with the most severe form look like boys with what appears to be a normal penis and scrotum. The penis is actually the clitoris, which has been stimulated to grow by testosterone. The scrotum is actually the labia, which have grown together. However, there are no testes Structure of the Male Reproductive System (testicles) in the apparent scrotum. The girls also have darkened nipples and genitals.

In infant boys, the extra testosterone does not affect the appearance of their genitals. However, later in childhood, the penis and pubic hair start to develop at too young an age (early puberty Early Puberty Early (precocious) puberty is sexual maturation that begins before the average age. The cause of early puberty is often unknown, but it may be caused by structural abnormalities or tumors in... read more ).

Infant girls and boys usually need fluids given by vein (intravenously) and corticosteroid drugs to treat dehydration and electrolyte abnormalities caused by the adrenal hormone deficiency.

Girls may need surgery and hormone supplements.

Imperforate hymen

The hymen is the thin membrane at the opening of the vagina. Usually, the hymen covers only part of the opening. However, some girls are born with a hymen that completely closes the vaginal opening (called an imperforate hymen). Because the vaginal opening is closed, vaginal secretions cannot go out. Sometimes the problem is not detected and repaired when girls are young so when girls begin having menstrual periods, the blood cannot go out. In such cases, girls may have pain because menstrual blood is trapped in their vagina.

Girls who have an imperforate hymen have a minor surgical procedure to open the hymen.

Labial adhesions

The labia are the fleshy lips at the opening of the vagina. Labial adhesions are when the lips of the vagina stick together. These adhesions typically occur in childhood, usually when girls are around 2 years of age, but may develop earlier or later. Labial adhesions usually do not cause symptoms and frequently go away spontaneously. When they do cause symptoms, it is usually because some urine collects in the vagina, which may lead to irritation, infections, or dribbling.

Girls who have labial adhesions that cause symptoms are given a cream that contains estrogen. Alternatively, doctors may split open the adhesions either in the office or in the operating room. Labial adhesions commonly return. To help prevent their return, girls apply another cream several times a day to protect the area from irritation that can cause the adhesions to return. Adhesions that do not cause symptoms should still be split open before puberty Puberty in Girls Puberty is a sequence of events in which physical changes occur, resulting in adult physical characteristics and capacity to reproduce. These physical changes are regulated by changes in the... read more so that menstrual blood can properly drain.

Extra genital organs (duplication abnormalities)

Rarely, girls are born with extra (duplicated) genital organs. That is, they may have two vaginas, two cervixes, or a double uterus instead of one. Sometimes, these abnormalities are noticed at birth, but, often, they are not discovered until later in life when there are urinary, menstrual, or pregnancy problems.

The Uterus, Cervix, and Cervical Canal
VIDEO

Some duplication abnormalities do not require treatment, but others need to be corrected with surgery.

Genital organs joined together (fusion abnormalities)

Rarely, girls' genital organs are joined together (fused) at birth. That is, their rectum, vagina, and urethra may join together as one structure. Sometimes, these abnormalities are noticed at birth, but, often, they are not discovered until later in life when there are urinary, menstrual, or pregnancy problems.

Fusion abnormalities may not require treatment, but others need to be corrected with surgery.

Internal Female Genital Organs

Internal Female Genital Organs

Male Genital Defects

There are several causes of male genital defects, but most involve abnormal levels of sex hormones in the fetus before birth.

Defects of the penis Structure of the Male Reproductive System The male reproductive system includes the penis, scrotum, testes, epididymis, vas deferens, prostate, and seminal vesicles. The penis and the urethra are part of the urinary and reproductive... read more may interfere with a boy's ability to direct the stream of urine while standing. For older males, the defects may interfere with the ability to have sexual intercourse and with sperm delivery, which may impair fertility. These defects can also cause problems with self-esteem because of their appearance.

Common genital birth defects in boys include

Some boys are born with genitals that are not clearly male or female (called ambiguous genitals). A common cause of ambiguous genitals in boys is testosterone deficiency during early pregnancy (see also Male Hypogonadism in Children Male Hypogonadism in Children Hypogonadism is decreased production of testosterone, sperm, or both in males. Hypogonadism occurs when there is a problem in the testes or a problem in the pituitary gland or the hypothalamus... read more ).

Male Reproductive Organs

Male Reproductive Organs

Hypospadias

  • Mild hypospadias: The opening is located just below the normal position on the tip of the penis.

  • Moderate hypospadias: The opening is located somewhere on the shaft of the penis.

  • Severe hypospadias: The opening may be located in the scrotum or between the scrotum and the anus.

The Penis and Urethra
VIDEO

Because urine may spray downward, boys who have severe hypospadias may need to sit down to urinate. Boys who have hypospadias often have another defect called chordee Chordee Birth defects of the genitals can involve the penis, scrotum, or testes (testicles) in boys and the vagina and labia in girls. Sometimes the genitals are ambiguous, that is, not clearly female... read more Chordee (a downward bend of the penis) and an incompletely developed foreskin, in which the foreskin is located on the top of the penis and does not encircle the underside (called a hooded foreskin because it looks like a hood on the penis). The more severe the hypospadias, the more severe the chordee and foreskin abnormalities.

Before removing the foreskin (circumcising Circumcision Many hospitals and other organizations offer teaching to parents about how to feed, bathe, and dress a newborn baby and become familiar with the baby's activities, cues, and sounds. Parents... read more Circumcision ) in a newborn with hypospadias, parents should consult a urologist (a doctor who specialize in the diagnosis and treatment of disorders of the urinary tract and male reproductive system). Sometimes doctors need the foreskin tissue when they do surgery to correct hypospadias.

Mild hypospadias may not need treatment. Other children usually have surgery to correct the defect at about 6 months of age. Often the surgery can be done on an outpatient basis (the child does not have to stay in the hospital overnight).

Examples of Hypospadias

Epispadias

In epispadias, the opening of the urethra is located on the top side of the penis instead of at the tip. Children who have epispadias may leak urine (urinary incontinence Urinary Incontinence in Children Urinary incontinence is defined as the involuntary release of urine occurring two or more times per month after toilet training has been completed. Incontinence may be present During the day... read more ). Boys who have the most severe form of epispadias often also have another disorder called bladder exstrophy. In bladder exstrophy, the bladder does not completely close and opens out onto the surface of the abdomen, allowing urine to drip through the open bladder rather than the urethra.

Surgery is done to correct epispadias.

Unusually small penis (micropenis)

Some boys have an unusually small penis. This defect is called micropenis or microphallus. Sometimes micropenis occurs in boys who do not have enough of the male hormone testosterone.

Boys who do not have enough of this hormone are given supplements of testosterone.

Chordee

Chordee is a curvature of the penis. The penis may bend downward, upward, or sideways or may be twisted. The bend may affect a boy's ability to direct the stream of urine while urinating.

If the bend is not severe, it may not need to be surgically corrected. If the bend is severe, surgery may be needed. People may choose to correct chordee if they are concerned it will affect their ability to have sexual intercourse or for cosmetic reasons.

Other defects of the penis

Some boys are born with a very tight frenulum (tissue located under the foreskin that helps pull the foreskin over the glans). A tight frenulum may prevent the foreskin from being completely pulled back over the tip of the penis. It may also cause pain or bleeding when the foreskin is pulled back or during an erection.

To treat the symptoms, doctors may surgically remove or cut the frenulum when the boy is older.

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