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 improve health and quality of life
About six 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
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
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
Streak ovaries may increase the risk for a type of cancer called gonadoblastoma, and should be monitored regularly. This monitoring may include pelvic ultrasound or MRI
and/or laboratory tests.
Small ovaries may not function properly. There may be problems with development of secondary sex characteristics (puberty), with menstruation or both. Consultation with both
a gynecologist and an endocrinologist (doctor who specializes in treatment of disorders of the endocrine system) may be helpful for
diagnosis and treatment of these conditions.
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
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 teamapproach--parents and pediatric specialists in urology, surgery, genetics, and endocrinology--can be helpful. And other families in the International WAGR Syndrome
Association can provide support and encouragement.