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Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022
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Images courtesy of Friedrich Saurer | Science Source.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
The development of the genitourinary (GU) system is both elegant and complex. During this crucial period of growth, multiple and varying congenital anomalies can arise. The following slides demonstrate the most common congenital GU anomalies.
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
A child presents to the clinic with the findings shown in the slide from a nuclear medicine study performed by his urologist.
Which of the following syndromes is associated with the GU anomaly shown above?
Beckwith-Wiedemann syndrome
Li-Fraumeni syndrome
Turner syndrome
Klinefelter syndrome
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: C. Turner syndrome.
A horseshoe kidney (HSK) is the most common type of GU fusion anomaly; it combines ectopia, malrotation, and vascular changes.[1] HSKs are more common in men than women (2:1 male-to-female ratio) and are commonly found incidentally in adults who are undergoing imaging for other concerns. HSK is believed to arise during week 4 of development, at which time the kidneys are located within the pelvis in close proximity, allowing possible fusion to occur with a fibrous isthmus. As the kidneys then ascend at approximately week 7 or 8 of development, the now fused unit is blocked by the inferior mesenteric artery (IMA), disallowing migration and concomitant rotation.[2] HSK is also associated with many other anatomic abnormalities (eg, of the vasculature, calyces, or ureters). In children, HSK is usually diagnosed by means of ultrasonography (US) identifying the isthmus (shown) or on the basis of distinctive findings on voiding cystourethrography (VCUG) or nuclear medicine studies. The proximity of the isthmus to the vertebrae increases the risk of injury, and patients should be counseled accordingly.[3] HSK is associated with Turner syndrome and has been seen in as many as 60% of Turner syndrome patients in some series.[4]
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
A female third-grader presents to the clinic with the computed tomography (CT) scan shown above, which was performed at an outside hospital. She reports otherwise normal voiding patterns. She was diagnosed with an ectopic ureter.
What is the most common voiding complaint among female patients with ectopic ureters?
Overactive bladder
Urinary retention
Continuous incontinence
Urge incontinence
Stress incontinence
Image courtesy of Josh Palka, DO.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: C. Continuous incontinence.
An ectopic ureter is any ureter that does not enter the trigonal area of the bladder. Ectopic ureters can be found in both single and duplicated collecting systems and are strongly associated with the upper moiety in duplicated systems.[5] Ectopic ureters found in females may be associated with continuous urinary incontinence; the ectopic ureter can be found anywhere from the bladder neck to the perineum and may enter into the vagina, the uterus, and even the rectum.[5] The image in the slide shows an ectopic ureteral orifice located at the bladder neck of a female, as may be seen from the white open-ended catheter that has been inserted. In males, ectopic ureters are always associated with the GU system and insert above the external sphincter in the wolffian structures (eg, vas deferens, seminal vesicles, or ejaculatory duct). Ectopic ureters associated with single units can present in a similar fashion; however, these commonly correspond with poorly functioning or even absent renal units.[6]
Image courtesy of Josh Palka, DO.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
A 22-year-old man presents to the emergency department (ED) with a complaint of acute-onset left flank pain for the past 24 hours. He reports no fevers, chills, or recent trauma. He has daily bowel movements. Laboratory work is unrevealing. CT with intravenous (IV) contrast is performed, with the results shown in the slide.
Which of the following is the most likely diagnosis?
Bladder cancer
Kidney stone
Foreign object within the bladder
Left ureterocele
Image courtesy of Josh Palka, DO.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: D. Left ureterocele.
A ureterocele is a cystic or saccular dilation of the distal ureter where it enters the bladder, with a urothelial membrane overlying the orifice located either within the bladder or spanning the bladder neck and urethra.[5] Like ectopic ureters, ureteroceles can be associated with either single or duplicated collecting systems. These anomalies can present incidentally on imaging (eg, on antenatal US, subsequently confirmed by postnatal imaging) or can present with infection, pain, stones, or prolapse of the ureterocele. Prolapse is directly visualized as a smooth, congested mucosal intralabial mass.[5]
The contrast CT scan in slide 6 represented a late-stage diagnosis of a 22-year-old man who presented to the ED with left flank pain. The image showed a filling defect within the bladder that was similar in appearance to a cobra head. Direct visualization under cystoscopy (shown) confirms the diagnosis of a ureterocele. Treatment options range from observation (for small nonobstructing ureteroceles) to endoscopic incision, ureteral reimplantation, bladder reconstruction, or heminephrectomy. This patient's ureterocele was managed with transurethral incision.
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
A male neonate is transferred to your facility from an outside hospital with US findings of bilateral hydronephrosis and a thickened, dilated bladder. A feeding tube was placed through the urethra before transfer. VCUG is performed, with the results shown in the slide, and the patient is diagnosed with posterior urethral valves (PUVs).
Which of the following is the next step?
Percutaneous nephrostomy tube placement
Observation
Repetition of renal US in 48 hours
Bladder drainage with catheter placement
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: D. Bladder drainage with catheter placement.
PUVs are the most common bladder outlet obstruction in male infants. The findings of a thickened, dilated bladder and bilateral hydroureter and pelvocaliectasis on antenatal US are highly sensitive (95%) and specific (80%) for PUV, with findings of PUV in approximately 1 in 1250 antenatal screenings.[7]
VCUG remains the definitive radiologic study for PUV. The image in slide 8 revealed a hypertrophied bladder neck with an elongated and dilated posterior urethra proximal to the PUVs with concomitant vesicoureteral reflux (VUR). The cystoscopic image in the current slide shows a valve leaflet coming off the right of the verumontanum (arrow). A resectoscope loop is behind the leaflet, in preparation for ablation.
A feeding tube should be used to decompress the bladder. In most instances, the valves can be ablated immediately; however, there is still an indication for vesicostomy or upper-tract diversion if a neonate's urethra is too small to accommodate available instruments or if the clinical status does not improve. If a Foley catheter is used, care should be taken not to inflate the balloon, because inflation could obstruct the ureteral orifices or cause bladder spasms. The effects of outlet obstruction during critical development periods are long-lasting and can impair kidney, ureteral, and bladder function. PUV patients also suffer from pulmonary hypoplasia, which is the most common cause of early mortality in infants with PUV.[8] Thus, multidisciplinary efforts are vital in caring for these patients.
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
After delivery, a male neonate is evaluated by the inpatient pediatrician for circumcision. He is diagnosed with hypospadias and severe chordee (example shown).
Which of the following is the next step?
Delay circumcision and urology evaluation
Perform scrotal US
Proceed with circumcision
Perform renal US
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: A. Delay circumcision and urology evaluation.
Hypospadias is associated with a classic clinical triad consisting of proximal displacement of the urethral opening, penile curvature, and a ventrally deficient hooded foreskin.[9] It is the second most common congenital anomaly in males, occurring in approximately 1 in 300 male births; recurrence rates are as high as 13% in first-degree relatives. Nearly 90% of hypospadias cases are isolated penile defects,[10] but if concomitant cryptorchidism is also identified, further evaluation for differences (disorders) of sex development (DSDs) is warranted.[9] Hypospadias is described as perineal, penoscrotal, penile, coronal, or glanular, with approximately 70% of cases occurring distally.[9] The type and location of the hypospadias and the nature and severity of the associated findings will determine the surgical intervention ultimately required (generally after the age of 6 months). The goals of therapy are (1) to optimize function and (2) to provide an improved cosmetic appearance. The images in the slide illustrate a scrotal hypospadias with penoscrotal transposition.
Image courtesy of Medscape.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
A male infant is referred to the urology clinic when his pediatrician is unable to palpate his right testicle.
Which of the following should not be performed?
Scrotal US
Physical examination under anesthesia prior to orchiopexy
Annual physical examination in the case of a retractile testis
Orchiopexy within the first 18 months of life
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: A. Scrotal US.
Cryptorchidism (ie, the failure of gonadal descent into a scrotal position; shown) is one of the most common GU problems encountered in pediatric urology.[11] The exact etiology is unknown but is likely to be multifactorial, involving hormones and gubernaculum development.[12] Commonly, patients are referred to a specialist when the primary care provider cannot palpate a testicle within the scrotum. Approximately 70% of undescended testicles can be palpated, with diagnostic laparoscopy required for the remaining 30%. Imaging is not recommended for undescended testicles.[11] Patients who present with bilateral nonpalpable testicles should be further evaluated for DSDs and referred to pediatric endocrinology and urology; such patients may be genetically female with congenital adrenal hyperplasia (CAH).[11] Cryptorchidism is treated by means of orchiopexy if the testicles remain undescended by 6 months of age.[11] Orchiopexy in the first 18 months of life is recommended to preserve available fertility potential.[11] The risk of testicular malignancy is increased in patients with cryptorchidism, with some studies quoting a two- to fivefold increase; patients should be counseled accordingly.[12] Potential impairment of fertility is a concern. Although children with one undescended testis have near-normal fertility, nearly two thirds of those with bilateral cryptorchidism are infertile.[12]
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
The US image in the slide demonstrates hydronephrosis in a young child, who then underwent a mercaptoacetyltriglycine (MAG3) scan that revealed obstruction.
Which of the following is not an indication for intervention in this context?
Symptoms associated with obstruction
Impairment of renal function
Hypotension
Development of stones or infection
Image courtesy of Kristina Suson, MD.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: C. Hypotension.
Ureteropelvic junction obstruction (UPJO) is the most common cause of postnatal hydronephrosis as an obstructive process between the renal pelvis and the upper proximal ureter.[13] Imaging studies should be performed to identify the site of obstruction and the degree of obstruction. Before the development of US screening protocols, most UPJO patients would present with flank pain—a phenomenon known as Dietl's crisis. Diuretic renography studies (eg, a MAG3 scan) can be performed to determine the degree of obstruction and evaluate the functional status of the renal units. Indications for intervention include symptoms associated with the obstruction, impairment of renal function, development of stones or infection and (rarely) hypertension. When intervention is deemed warranted, dismembered pyeloplasty is the gold standard surgical therapy and can be performed via an open, laparoscopic, or robotic approach.[14] Endoscopic techniques (eg, laser or incisional endopyelotomy) have been described as well. The MAG3 scan in the slide demonstrates an obstructed left collecting system with a half-time longer than 20 minutes. Because function was already compromised, a dismembered pyeloplasty was performed.
Image courtesy of Martin Kaefer, MD | Medscape.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
You are called to a newborn's room after the findings shown in the slide are noted. In comparison with bladder exstrophy, what other anatomic anomaly is associated with cloacal exstrophy?
Omphalocele
Situs inversus
Hemihypertrophy
Duodenal atresia
Image courtesy of Medscape.
Congenital Anomalies of the Genitourinary System
Kristina Suson, MD; Yegappan Lakshmanan, MD | May 12, 2022 | Contributor Information
Answer: A: Omphalocele.
Bladder exstrophy-epispadias-cloacal exstrophy complex constitutes a spectrum of anomalies, with cloacal exstrophy being the rarest and most severe of these anomalies. Compared with classic bladder exstrophy, which is almost always associated with epispadias, cloacal exstrophy also involves the gastrointestinal system, resulting in an associated omphalocele.[15] Bladder exstrophy can be diagnosed antenatally on US, most notably with the absence of a bladder within the pelvis. Other findings include a semisolid mass protruding from the abdominal wall, a low-set umbilicus, an anteriorly displaced scrotum with a small phallus, and/or abnormal iliac crest widening.[16] Antenatal diagnosis allows antenatal counseling and delivery plans at an experienced tertiary center. After delivery, the umbilical cord should be ligated with a silk suture to reduce trauma to the open bladder plate. Plastic wrap can also be used to protect the bladder plate from irritation from the diaper. As shown in the slide, patients with bladder exstrophy may have a laterally displaced and flattened pelvis. Additionally, external rotation of the pelvis and progressive diastasis may be seen. Iliac osteotomies are typically reserved for patients who are closed after 72 hours, especially for wide diastasis.
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Contributor Information
Authors
Kristina Suson, MD
Children's Hospital of Michigan
Detroit Medical Center
Detroit, MI
Disclosure: Kristina Suson, MD, has disclosed no relevant financial
relationships.
Yegappan Lakshmanan, MD
Children's Hospital of Michigan
Detroit Medical Center
Detroit, MI
Disclosure: Yegappan Lakshmanan, MD, has disclosed no relevant
financial relationships.
Reviewer
Josh Palka, DO
Detroit Medical Center
Detroit, MI
Disclosure: Josh Palka, DO, has disclosed no relevant financial
relationships.
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References
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Mariotto A et al. Ureteral rupture after blunt abdominal trauma in a child with unknown horseshoe kidney. Pediatr Med Chir. 2015 Sep 28;37(2):pmc.2015.110. PMID: 26429120
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[Guideline] Kolon TF et al. Evaluation and treatment of cryptorchidism (2018). American Urological Association. 2018; Accessed: May 9, 2022. Available at: https://www.auanet.org/guidelines/guidelines/cryptorchidism-guideline.
Barthold JS et al. Etiology, diagnosis, and management of undescended testis. Partin AW et al, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia: Elsevier; 2020: chap 148.
Nakada SY et al. Management of upper urinary tract obstruction. Partin AW et al, eds. Campbell-Walsh-Wein Urology. 12th ed. Philadelphia: Elsevier; 2020: chap 49.
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Gearhart JP et al. Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol. 1995 Jun;85(6):961-4. PMID: 7770267
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