International WAGR Syndrome Association

11p Deletion Syndrome

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YOU TUBE

It is important to remember that a given individual with WAGR syndrome may or may not have or develop the condition listed below.  

Genital Abnormalities in Girls with WAGR Syndrome Are Common but Not Obvious
 
 
It is well known that many boys with WAGR syndrome have abnormalities of the genitals.  These abnormalities are usually obvious at birth.  Less well known is the fact that girls with WAGR syndrome can have genital abnormalities, too.  Because these abnormalities are often internal, they are not so obvious and may go undiagnosed.
 
The reason for genital abnormalities in both boys and girls with WAGR syndrome may lie in or near the "WT1" gene.  This gene is one of many that are deleted (missing) in this disorder.  This gene is important, because it is involved in the development of Wilms tumor, and it is also thought to be needed for normal development of the genitals before birth. 
 
In a report of 7 girls with WAGR syndrome, it was noted that although each was genetically female (had two X chromosomes) and all had normal-appearing external genitals, they also had various abnormalities of the uterus, vagina, and/or ovaries.   5 of the girls had absent, small, or abnormal ovaries, and one girl had gonadoblastoma (a type of cancer that is more common in abnormal ovaries).  The report makes the following recommendations for all girls with WAGR syndrome:
 
1) Periodic screening with pelvic ultrasound or MRI
 
2) If abnormal ovaries are identified, the physician should consider surgical removal
 
3) Caregivers should be aware that menstrual irregularities are common, and can provide anticipatory guidance as needed.
 
from: "Genital anomalies and gonadoblastoma in females with WAGR syndrome"
Clericuzio, C., Trout, K., 2006.

Link to abstract >



Genital Abnormalities in Boys with WAGR Syndrome Are Common

"Undescended Testes." Encyclopedia of Children's Health.
Ed. Kristine Krapp and Jeffrey Wilson. Thomson Gale, 2005. eNotes.com. 2006. 14 Dec, 2006
http://health.enotes.com/childrens-health-encyclopedia/undescended-testes  

 

Encyclopedia of Children's Health - Undescended Testes

Definition

Also known as cryptorchidism, undescended testes is a congenital condition characterized by testicles that do not follow the normal developmental pattern of moving into the scrotum before birth.

Description

In the fetus, the testes are in the abdomen. As development progresses, they migrate downward through the groin and into the scrotum. This event takes place late in fetal development, during the eighth month of gestation. In some newborn boys the testes are not present in the scrotum, either because the testes did not descend or because the testes never developed in the fetus.

Demographics

Eighty percent of all undescended testes cases naturally correct themselves during the first year of life. Only 3 to 4 percent of full-term baby boys have undescended testes, and half of those complete the journey by the age of three months. Up to 30 percent of boys born prematurely have testes that have not yet made the full descent. In 5 percent of cases of undescended testes, the testis on one side is completely absent. In 10 percent of cases, both testes are completely absent.

Causes and symptoms

There are many different and complex reasons why one or both testes may not descend. Sometimes the failure is due to problems that occur during pregnancy with the tissues as they are developing or with hormone levels in the developing fetus. If the testes did not descend because they are absent, then the likely cause is different than for testes that are present but did not descend. In the case of absence, it is possible that the testes never developed at all because the blood flow was cut off to them as they were developing, preventing their formation. One or both of the testicles can be undescended; therefore, the scrotum can appear to be either missing or lopsided.

When to call the doctor

The doctor will check for the testes in the scrotum during the normal newborn examination. If the parent notices that their male infant's testes do not appear normal or do not appear to be present at all, the parent should alert the doctor. If the testes have not descended by the time the child is six months of age, the parent should call the doctor to begin discussing possible treatment options.

Diagnosis

The newborn examination always checks for testes in the scrotum. It they are not found, a search will be conducted, but not necessarily right away. If the testes are present at all, they can be anywhere within a couple inches of the appropriate spot. In most cases, the testes will drop into place later. In 5 percent of cases, one testis is completely absent. In 10 percent of cases, the condition occurs on both sides. Presence of undescended testes is differentiated from absence of testicles by measuring the amount of gonadotropin hormone in the blood.

Treatment

Once it is determined that the testes will not naturally descend, treatment options must be considered. Hormone therapy is a possible treatment but does not have a very high success rate. Another treatment option is surgery. The procedure is called an orchidopexy and is relatively simple once the testes are located. The surgery is usually performed when the boy is between one and two years old.

Prognosis

Of full-term baby boys who have undescended testes, half will descend on their own without intervention by the age of three months. Eighty percent of all undescended testes cases naturally correct themselves during the first year of life. Of those cases that do not correct themselves naturally, intervention is very important, because undescended testes increase the likelihood of sterility and testicular cancer. Undescended testes are twice as likely to develop cancer as normally descended testes. Ten percent of all testicular cancers are in undescended testes. An adult man is three to 17 times more likely to develop testicular cancer if he has had a testis that did not descend naturally. Surgery done to move the testis into the scrotum does not reduce the likelihood of malignancy but allows accessibility of the testes to screen for masses which will allow early treatment. The incidence of testicular cancer in men who did not have both testes descend normally is about 1 in 2000.
Many children who have undescended testes have reduced fertility as adults. It is thought that as many as 50 to 75 percent of children with undescended testes have problems with fertility as adults. Children with undescended testes are also more likely to develop hernias and have problems with their urinary tract.

Prevention

There is no known way to prevent undescended testes.

Parental concerns

Undescended testes are of concern because, although they are not known to be a threat to the child's immediate health, they are associated with an increased likelihood of negative outcomes later in life, including an increased likelihood of sterility and an increased incidence of testicular cancer.

KEY TERMS

Cryptorchidism—Undescended testes, a condition in which a boy is born with one or both testicles in the lower abdomen rather than the scrotum.
Embryonic—Early stages of life in the uterus.
Fetal—Refers to the fetus. In humans, the fetal period extend from the end of the eight week of pregnancy to birth.
Orchiopexy—A surgical procedure that places an undescended testicle in the scrotum and/or attaches a testicle to the scrotum.

Resources

BOOKS

Behrman, Richard E., Robert M. Kliegman, and Hal B. Jenson, eds. Nelson Textbook of Pediatrics. Philadelphia: Saunders, 2004.
Goldman, Lee, and J. Claude Bennett, eds. Cecil Textbook of Medicine. Philadelphia: Saunders, 2004.
Rajfer, Jacob. "Congenital Anomalies of the Testes and Scrotum." In Campbell's Urology, edited by Patrick C. Walsh, et al. Philadelphia: Saunders, 2002.
Rozauski, Thomas, et al. "Surgery of the Scrotum and Testis in Children." In Campbell's Urology, edited Patrick C. Walsh, et al. Philadelphia: Saunders, 2002.

PERIODICALS

Koo, Harry P. "Is It Really Cryptorchidism?" Contemporary Urology (January 2001): 12.

ORGANIZATIONS

American Urological Association. 1000 Corporate Blvd., Linthicum, MD 21090. Web site: .
Tish Davidson, A.M.
©2000-2006 Enotes.com LLC
All Rights Reserved
Print copy link here:
http://health.enotes.com/childrens-health-encyclopedia/undescended-testes/print

 

Hypospadias - Encyclopedia of Children's Health 

http://health.enotes.com/childrens-health-encyclopedia/hypospadias

Definition

Hypospadias is a congenital defect of the penis in which the urinary tract opening, or urethral meatus, is abnormally located away from the tip of the penis.

Description

In males with hypospadias, the urinary opening is located on the underside of the penis. Often there is an accompanying underdevelopment of the foreskin in which the penis has a hooded appearance. Most of the foreskin is located on the top and sides of the tip of the penis. The urethral meatus may be located at any point along the penile shaft from just below the tip of the penis to closer to the body and/or near the scrotum. It may appear as a small hole in the penis or, in more severe cases, may be a longer slit-like opening. Some cases may involve chordee, a condition in which the penis bends down or away from the body during erection.

Demographics

Hypospadias is the most common anomaly of the penis affecting approximately one in 250 males born. Research has shown a doubling of the number of babies born with this anomaly. The reason for this increase is as of 2004 unknown.

Causes and symptoms

Hypospadias is a congenital anomaly resulting from incomplete closure of the tissue of the penis that forms the urethra (the tube that carries urine from the bladder to the outside of the body). The potential symptoms of hypospadias if left untreated include an abnormal direction of the urine stream, abnormal appearance of the penis, infertility if the defect is located far enough away from the tip of the penis, and an inability to have sexual intercourse in cases involving chordee.

Diagnosis

Hypospadias is diagnosed most often during the initial newborn physical examination and is classified based on where the urethral meatus is located. In rare cases infants with hypospadias occurring closer to the body and who also have undescended testicles, a karyotype or genetic screen may be performed to determine gender. Males who have hypospadias located within or near the scrotum should also have a procedure called a voiding cystogram to rule out additional urinary tract anomalies. In general, very few babies with hypospadias have other birth defects. Many males with multiple congenital anomalies, however, may also have hypospadias.

Prognosis

The prognosis for boys who have undergone hypospadias repair is excellent. Very few children experience complications. In most cases, the penis appears normal and functions normally. Less than 5 percent of children with mild hypospadias experience postoperative complications. Complications include wound infections, unexpected opening near the repair site, and rarely, meatul stenosis, a narrowing of the urinary tract opening.

Prevention

There was as of 2004 no known prevention of hypospadias.

Parental concerns

Most hypospadias cases are minor and involve few complications. Initially, parents should be sure their son is not circumcised because the foreskin is often essential in hypospadias repair surgery. Should the parents decide to allow corrective surgery, they should find a pediatric urologic surgeon with experience in performing hypospadias repairs. After surgery, care must be taken to follow all postoperative instructions and to obtain follow-up care from both the pediatrician and pediatric urologist. Parents may be concerned about the appearance and function of the penis. In most cases, following hypospadias repair surgery, the penis functions normally and is normal in appearance as well. Most males who have had a hypospadias repair are able to stand to urinate, experience normal sexual function, and normal fertility. Parents may be concerned about the physical and emotional pain of genital surgery. The recommended age of surgical repair is between four and 12 months. This age is ideal for many reasons including the size of the penis and the slow rate of growth of the penis at this age, the relatively low risk from anesthesia, and the fact that children at this age have not formed long-term memory and will not remember the surgery.

KEY TERMS

Anesthesia—Treatment with medicine that causes a loss of feeling, especially pain. Local anesthesia numbs only part of the body; general anesthesia causes loss of consciousness.Chordee—An abnormal curvature of the penis.Circumcision—A surgical procedure, usually with religious or cultural significance, where the prepuce or skin covering the tip of the penis on a boy, or the clitoris on a girl, is cut away.Congenital—Present at birth.Foreskin—A covering fold of skin over the tip of the penis.Karyotype—A standard arrangement of photographic or computer-generated images of chromosome pairs from a cell in ascending numerical order, from largest to smallest.Scrotum—The external pouch containing the male reproductive glands (testes) and part of the spermatic cord.Urethra—A passageway from the bladder to the outside of the body for the discharge of urine. In the female this tube lies between the vagina and clitoris; in the male the urethra travels through the penis and opens at the tip. In males, seminal fluid and sperm also pass through the urethra.Urethral meatus—The opening of the urethra on the body surface through which urine is discharged.Voiding cystogram—A radiographic image of the mechanics of urination.

Resources

BOOKS

Berhman, Richard E., et al., eds. Nelson Textbook of Pediatrics, 16th ed. Philadelphia: Saunders, 2000.Rudolph, Colin D., and Abraham M. Rudolph, eds. Rudolph's Pediatrics, 21st ed. New York: McGraw-Hill, 2003.

WEB SITES

"Hypospadias." Children's Hospital Boston, 2001. Available online at (accessed December 11, 2004)."Hypospadias." Digital Urology Journal. Available online at (accessed December 11, 2004).Deborah L. Nurmi, MS©2000-2006 Enotes.com LLC
All Rights Reserved

Questions may be sent to:

ReachingOut@wagr.org or KellyTrout@sbcglobal.net


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