What are the possible genitourinary issues in CdLS?
Genitourinary problems include abnormalities of the male or female reproductive system, kidneys and urinary tract. There are a number of possible genitourinary problems in CdLS, and I will only discuss the most common.
Undescended testicles are certainly at increased incidence in CdLS. Nearly 10% of affected males have one testis or both testes undescended, compared with less than 2% of the unaffected male population. The method of detection is by physical examination: in palpating the scrotum, it feels empty and may on inspection look slightly smaller than in an equivalently-sized male with descended testicles. Occasionally, one testicle may be descended and the other not. Undescended testicle can be confirmed by a parent checking the scrotum during a warm bath, since male’s testicles tend to descend into the scrotum in warm temperatures and rise up in cold temperatures. Hormone injections or surgery are recommended to bring down the testicles by around 18 months (if they do not descend on their own) because testicles that remain in the abdomen are at higher risk for developing malignancies than those that are in the scrotum, even though this is a fairly low percentage. Remember, whenever an individual is undergoing surgery for any reason, particularly an individual with several areas of involvement, it is helpful to notify the pediatric dentist and ophthalmologist and any other involved doctor, in case other procedures could be done during the same anesthesia.
Another possible genitourinary tract malformation is posterior urethral valves, which are valves that exist along the urinary tract that are not normally there. This is mostly seen in males. These valves can be detected prenatally by ultrasound, however can be hidden until later in childhood. One of the possible presenting signs is a disturbance in urination (e.g. pain). A urinalysis might be negative with this condition, but there could be other presenting symptoms, such as abdominal pain or even signs of infection. The typical method of diagnosis after birth is by using a voiding cystourethrogram, which involves injecting a dye through the urethra in the penis and watching the flow of the dye. Management depends on the severity of the related symptoms (e.g. obstruction, kidney impairment).
Other genitourinary problems in CdLS include kidney abnormalities, most of which would be asymptomatic and detected by an ultrasound, and female organ system abnormalities, which are rare.
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