Urogenital adysplasia syndrome is a rare disorder characterized by anomalies of the kidneys, urinary tract, and/or reproductive system.
one or two missing kidneys (renal agenesis) one or two malformed kidneys (dysplastic kidneys) bladder anomalies hypertension vaginal anomalies uterine anomalies fallopian tube anomalies lack of a menstrual period (amenorrhea) cysts of the seminal vesicle
Diagnosis of urogenital adysplasia syndrome is usually made by physical examination by a medical geneticist or other physician, an ultrasound of the kidneys and the urinary and reproductive tracts, and a detailed medical family history. Prenatal diagnosis of severe cases can sometimes be made using targeted ultrasound imaging during pregnancy to provide pictures of the fetal kidneys, bladder, and amniotic fluid levels. Ultrasound results that may indicate urogenital adysplasia syndrome include low amniotic fluid levels (oligohydramnios) combined with missing or abnormally formed kidneys (renal agenesis or adysplasia). Ultrasonographic screening for parents and siblings of infants born with agenesis or adysplasia of the kidneys is recommended since the diagnosis of urogenital adysplasia syndrome can have implications for their health and medical care. Diagnostic prenatal or postnatal molecular genetic testing is not available as of 2005.
Since urogenital adysplasia syndrome results in a variety of different physical symptoms, the prognosis for each affected individual is very different. Individuals who have one normal kidney and one malformed have an excellent prognosis, and most live normal lives. Individuals who have only one functional kidney may have issues with hypertension and proteinuria. Individuals with reproductive anomalies may be infertile or have fertility issues. An obstetrician/gynecologist who specializes in pelvic reproductive reconstructive surgery for infertility, endometriosis, pelvic pain, and congenital anomalies may be able, in some cases, to correct some anomalies and restore fertility. On the most severe end of the spectrum, babies found prenatally to have low amniotic fluid (oligohydramnios) and two missing kidneys (bilateral agenesis or adysplasia) might be miscarried, stillborn, or die after birth due to combined health implications of incompletely formed lungs and missing kidneys.
Urogenital adysplasia syndrome is a genetic condition that has no specific treatment that can remove, cure, or fix its underlying genetic error. Treatment for urogenital adysplasia syndrome is limited to the management of specific symptoms. Individuals with one only kidney should be followed by a nephrologist who can evaluate their need for antihypertensive agents and/or a kidney transplant. Individuals affected by urinary tract anomalies should be followed by an urologist. Individuals with reproductive anomalies can consult an obstetrician/gynecologist who specializes in pelvic reproductive reconstructive surgery for infertility, endometriosis, pelvic pain, and congenital anomalies. Medical geneticists and genetic counselors are available to discuss inheritance patterns of the syndrome and reproductive options with affected individuals. Pregnant women whose fetuses are at risk for urogenital adysplasia syndrome should be evaluated by a perinatalogist or maternal fetal medicine specialist. Other specialists and/or surgeons may be added to an individual's medical team to address specific individual concerns.