Boys and girls with WAGR syndrome frequently have abnormalities of the genitals and/or the urinary tract. These abnormalities occur before birth, and are thought to be the result of deletion of one copy of the WT1 gene. 

Boys with WAGR syndrome may have problems with the testicles or penis. Girls with WAGR syndrome may have internal genital abnormalities of the vagina, uterus or ovaries. Both sexes may have structural abnormalities of the kidneys or ureters.

In some cases, problems with development of the genitals may be severe enough to make sexual assignment (male or female) at birth difficult.

In all cases, appropriate diagnosis and treatment of genitourinary abnormalities can improve health and quality of life.

About sixty percent of boys with WAGR syndrome have abnormalities of the genitals. These may include:

• Cryptorchidism  Undescended testicle(s). Usually treated with surgery to bring the testicle down into the scrotum. If this is not possible, the testicle may be removed 
• Hypospadias  Opening of the ureter somewhere along the shaft of the penis rather than at the tip. Usually treated with surgery
• Micropenis  Unusually small penis

Referral to a urologist (a doctor who specializes in treatment of disorders of the genitourinary tract) is important for diagnosis and treatment of these conditions.

Male Genitourinary Tract

Female Genitourinary Tract

Problems with the genitals in girls with WAGR syndrome may not be diagnosed at birth because some female genital organs are internal. It is important to be aware that girls with WAGR syndrome may have:

• Small or Streak ovaries  Underdeveloped ovaries
• Hypoplastic uterus  Small or underdeveloped uterus
• Septate or bicornuate uterus  Abnormal shape of the uterus
• Septate vagina  Divided or "double" vagina 

Urinary Tract

In both sexes, problems with the urinary tract may include:

• Duplicated ureter  Having more than two ureters 
• Ectopic ureter  A ureter that is not connected properly to the bladder or that drains somewhere other than the bladder
• Hypoplastic kidney  A small or underdeveloped kidney
• Horseshoe kidney  When the two kidneys join together at the bottom to form a "U" shape
• Unilateral renal agenesis  Absence of one kidney
• Renal Cysts  Fluid-filled sacs
• Nephrogenic Rests  Clusters of immature cells. In some cases, nephrogenic rests may be precursers of Wilms tumor

Disorders of Sexual Development

In some newborns with WAGR syndrome, problems with the development of the genitals may make sexual assignment at birth (male or female) difficult. This can be very troublesome for families, and parents often feel confused and alone.

It is important to know that you and your child are not alone. A team approach including parents and pediatric specialists in urology, surgery, genetics, and endocrinology, can be helpful.  Other families in the International WAGR Syndrome Association can also provide support and encouragement.