Genitourinary Tract Abnormalities and WAGR Syndrome
The “G” in WAGR syndrome stands for abnormalities of the genitals and/or urinary tract.
In boys with WAGR syndrome, abnormalities of the genitals may include undescended testes (CRYPTORCHIDISM) or the ureter may open somewhere along the shaft of the penis rather than at the tip (HYPOSPADIAS). Undescended testes are usually treated with surgery to bring the testicle down into the scrotum, if possible. Hypospadias is also treated with surgery.
In girls with WAGR syndrome, there may be abnormalities of the internal genitals, including underdeveloped (streak) ovaries, underdevelopment of the uterus (hypoplastic uterus), abnormal shape (septate or bicornuate uterus) or a divided or double vagina (septate vagina). Underdeveloped ovaries are thought to have an increased risk for a type of cancer called gonadoblastoma, and may need to be monitored. Underdeveloped ovaries may not function properly, and there may be problems with the development of secondary sex characteristics (puberty) or with menstruation. In these cases, consultation with a doctor who specializes in treatment of disorders of the endocrine system (endocrinologist) may be helpful as well as a gynecologist.
In some people with WAGR syndrome, problems with the development of the genitals may make their sexual assignment at birth (male or female) uncertain. In these cases, a team approach of parents working with pediatric specialists including a urologist, geneticist, and endocrinologist may help to maximize diagnosis and treatment. The Accord Alliance can be a reference.
In both sexes, problems with the urinary tract may include having more than two ureters (duplicated ureter) or a ureter which is not connected properly to the bladder or which drains somewhere other than the bladder (ectopic ureter). There may be abnormalities of the kidneys, such as underdevelopment (hypoplasia) or an abnormal shape (horsehoe kidney). Within the kidneys there may be fluid-filled sacs (cysts) or clusters of immature cells (nephrogenic rests).
WAGR syndrome: a clinical review of 54 cases. Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. Pediatrics. 2005 Oct;116(4):984-8.
Last updated: March, 2015
Kelly Trout, BSN, RN
International WAGR Syndrome Association
The condition listed is associated with WAGR syndrome. Some individuals with WAGR syndrome will have this condition, some will not. Ask your physician whether testing, treatment, or monitoring for this condition is appropriate for your child.