Genitourinary Manifestations

Genitourinary (GU) manifestations are commonly found in patients with CdLS. These can encompass anatomic and functional anomalies of the kidney, urinary tract, reproductive organs and external genitalia.

Up to 40% of patients with this CdLS will manifest structural abnormalities of the kidney, including reflux of urine into the kidneys, improper drainage of the kidneys and abnormal development of the units within the kidney, which can lead to a decline in renal function and recurrent infections. For males, undescended testes are found in 73% of patients, which can affect fertility and increase their risk of developing testicular cancer. In up to 57% of males, hypospadias, where the urethral opening is located on the underside of the penis rather than at the tip, can be found. In females, smaller ovaries or underdeveloped uteri may be observed, with significant implications for future fertility. Underdeveloped genitalia may be seen in either sex. Less common abnormalities of the urinary tract include kidney tumors and clots blocking the veins that drain the kidney. The adrenal glands may be fused and abnormal connections from the bladder to the belly button may also be seen.

The first step in management is a detailed family, medical and surgical history. This is important to identify genetic or pre-existing risk factors for development of a concomitant GU disease. A history of abnormalities on ultrasound performed prior to birth may also provide information about GU abnormalities. A review of symptoms should focus on a detailed analysis of urinary and bowel habits, nutritional habits, and abdominal or groin pain. A urinary tract infection may be detected by a constellation of symptoms such as poor feeding, fever or malodorous urine. Your physician will perform a physical exam, including an assessment of the abdomen for fullness or masses, curvature and size of the penis, position of the urethral opening, circumcision status, asymmetry or discoloration of the scrotum/labia, location of and ability to examine the testicles, location and patency of the vagina, patency of the anus, and lower back or spine anomalies.

Prior to and after birth, ultrasounds are helpful to visualize the external genitalia or to determine the presence of a uterus or scrotum. In a patient where CdLS is suspected, an ultrasound of the bladder and kidneys should be completed to help detect any GU anomalies, which may prompt further imaging. Ultrasound is an ideal initial study, it is non-invasive, cost-effective and avoids exposing the child to any radiation. It can be used to look at structures across the abdomen or from the perineum. These examinations may help identify the presence or absence of the uterus, vagina, gonads, rectum or urethra. Occasionally, an MRI may be helpful to better define these structures if the ultrasound is unable to identify the location.

A number of these concerns may be identified at home during routine care. If hypospadias is a concern, observing the patient’s urinary stream can help locate the urethral opening. A testicular exam is usually best accomplished in a warm bath if presence of testes within the scrotum is questionable. Any concerns should be brought to the attention of your primary care physician. If an undescended testis is diagnosed at birth, it is observed for positional changes during the first six months of life to allow for spontaneous testicular descent. After six months of age, surgical treatment by a pediatric specialist is encouraged. Since hypospadias does not routinely affect the patient’s ability to empty their bladder, surgical repair is not recommended until at least six months of age and may require multiple procedures depending on its severity. If renal or bladder anomalies are detected, the patient may be placed on antibiotics to prevent infections or require future interventions. By increasing awareness of the GU manifestations that can present in CdLS, early detection and appropriate management can be better achieved. It is imperative to be vigilant to any change in the patient’s exam or symptoms, which may warrant a formal evaluation with a board-certified pediatric urologist.

Find other pages that share the same topic as this page Gynecology3 Gynecology2
Ming H. Wang, Vinaya P. Bhatia and Jordan King
Ming H. Wang, Vinaya P. Bhatia and Jordan King

Division of Urology, Department of Surgery, Texas Children’s Hospital,
Houston, TX and Scott Department of Urology, Baylor College of Medicine, Houston, TX

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Last modified by Gerritjan Koekkoek on 2021/06/14 16:59
Created by Gerritjan Koekkoek on 2020/03/11 20:11


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