*04/20/22: Congenital/Structural GU Disease: Clin Med 3

Medullary sponge kidney

(MSK, Tubular ectasia, Cystic dilatation of the Collecting Ducts) - A usually benign developmental/congenital anomaly characterized by a spherical, oval, or irregular dilatation of the medullary and papillary portions of the collecting ducts of the kidney. No known proven causes are identified. The disorder is bilateral in 70% of cases; associated cysts occurring usually measure 1-7 mm and contain clear, jellylike material and, frequently, small calculi. The kidney may appear to be slightly enlarged when several papillae are involved. MSK can be associated with a multitude of other congenital disorders such as: anodontia, autosomal dominant polycystic kidney, Beckwith-Wiedemann syndrome, Caroli syndrome, congenital hemihypertrophy, congenital pyloric stenosis, distal RTA, Ehlers-Danlos syndrome, horseshoe kidney, Marfan syndrome, parathyroid adenomas, renal artery stenosis, ureteral duplication

Renal dysplasia

- a congenital anomaly of the kidney and urinary tract. The leading hypothesis involves the ureteric bud theory; multicystic dysplastic kidneys results from an abnormal induction of the metanephric mesenchyme by the ureteral bud. A subtype known as cystic renal dysplasia is characterized by dysplastic renal parenchyma and formation of cysts. The most severe form is multicystic dysplastic kidney, in which functional renal parenchyma is absent and only undifferentiated mesenchyme and numerous cysts are present. Multicystic dysplastic kidney is the most common cystic malformation of the kidney in infancy. Milder manifestations are associated with obstructive cystic renal dysplasia. The disorder may be associated with: § urinary tract obstruction, such as ureteropelvic junction obstruction or posterior urethral valves § vesicoureteric reflux § various genetic syndromes, such as Meckel-Gruber syndrome

Varicocele

- a dilatation of the pampiniform venous plexus and the internal spermatic vein. Varicocele is a well-recognized cause of damage to the testicles and decreased testicular function - effects include reduced sperm production, concentration, motility, and irregular morphology. Reduced sperm DNA integrity and other aspects of sperm function are harmed; reductions in testosterone production are postulated. Most varicoceles (80-90%) are left-sided (due to the left spermatic vein draining into the renal vein at a 90 degree angle, however a subclinical right varicocele may occur in up to 35-40% of these men. Varicoceles are classified as small, moderate and large.

Hydrocele

- a fluid collection between visceral and parietal tunica vaginalis of the scrotum, or along the spermatic cord. In infants, communicating or non-communicating hydroceles may occur. Hydroceles are caused by a patent processus vaginalis (found in 80-90% of term male infants at birth); this frequency rate steadily decreases until age 2 years, at which point it appears to plateau at approximately 25-40%

Horseshoe kidney

- is the most common form of renal fusion abnormality. Two theories predominate: a teratogenic event involving the abnormal migration of posterior nephrogenic cells, which then coalesced to form the isthmus or, a mechanical fusion occurred during organogenesis (causing the inferior poles of these early kidneys touch, fusing in the lower midline). Two distinct, functioning kidneys exist on each side of the midline and are connected at the lower poles (or rarely at the upper poles) by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline of the body. The most common associated finding in horseshoe kidney is ureteropelvic junction (UPJ) obstruction, which occurs in up to 35% of patients. Compared to normal kidneys, higher rates of the following: § hydronephrosis § stone formation § infection (due to urinary stasis, stones and VUR) § cancers o RCC is most common, but Horseshoe kidney does not confer an INCREASED risk o Risk of transitional cell, sarcomas, Wilms and carcinoid tumors are all INCREASED The variable blood supply, presence of the isthmus, high insertion point of the ureter, and abnormal course of the ureter all contribute to these problems.

Epispadias

A rare urogenital malformation characterized by the failure of the urethral tube to tubularize correctly, resulting in a dorsal meatal location. Children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex (BEEC). This is compared to isolated epispadias which comprises less than 10 percent of the total cases of epispadias (incidence of less than 1 per 100,000 live births). Female epispadias incidence ranges from at least 1 in 160,000 to 1 in 480,000 live births.

Cryptorchidism

Cryptorchidism "Hidden Testicle" - the most common genital problem encountered in pediatrics. It generally refers to an undescended or maldescended testis. Theorized links include inadequate testosterone levels or a defect in the testes or the gubernaculum (fibromuscular band that connects the testes to the scrotal floor and probably helps pull the testes into the scrotum by shortening as the fetus grows). The testis remains in the abdomen, inguinal canal or at the external ring. Although this condition may be bilateral, it more commonly affects the right testis****. Because the undescended testis is maintained at a higher temperature, spermatogenesis is impaired, leading to reduced fertility. A patent processus vaginalis (associated with an indirect inguinal hernia) is found in more than 90% of patients with undescended testis.

Cryptorchidism - DX

For unilateral or bilateral undescended testes with hypospadias or bilateral nonpalpable testes, tests include the following: § Testing to rule out intersexuality (mandatory) § 17-hydroxylase progesterone § Testosterone § Luteinizing hormone (LH) § Follicle-stimulating hormone (FSH) To determine anorchia (complete lack of testes) in cases of bilateral nonpalpable gonads, perform the following: § LH testing § FSH testing § Testosterone level testing before and after stimulation with human chorionic gonadotropin (hCG) o increased basal gonadotropin levels and a negative testosterone response to hCG stimulation suggests congenital bilateral anorchism

Hydrocele - communicating Hydrocele

characterized by the incomplete obliteration of the processus vaginalis. This permits an open communication between the ABDOMINAL peritoneum and tunica vaginalis. In most cases, this opening closes spontaneously in the first year of life. A persistent opening allows for indirect inguinal hernia to form.

Paraphimosis - dx

clinical

Hydrocele - non-communicating Hydrocele

fluid accumulation in-utero prior to closure of tunica vaginalis. Prior to birth, the tunica vaginalis closes. After delivery, no further fluid accumulation occurs and residual fluid is gradually resorbed by 18-24 months. When present, they result from increased fluid production or impaired fluid absorption. VIRAL INFECTIONS CAN ALSO CAUSE HYDROCELE

Renal agenesis

is a congenital absence of one or both kidneys. If bilateral (traditionally known as the classic Potter syndrome) the condition is fatal, whereas if unilateral, patients can have a normal life expectancy. It can be associated with a number of chromosomal abnormalities (trisomies, 45X mosaicism, Turner's syndrome, 22q11 microdeletion).

Paraphimosis

male cannot be returned to its normal anatomic position (ie, the foreskin remains retracted forming a circumferential band behind the corona for prolonged periods). Venous occlusion and edema result, which in-turn, causes arterial occlusion. Arterial compromise may then induce a gangrenous state and autoamputation of the glans penis.

Phimosis

the prepuce (foreskin) cannot be retracted behind the glans penis. Here, the foreskin is too tight to be retracted to reveal the glans penis. Unlike paraphimosis, it is not a urological emergency. Phimosis is more common than paraphimosis. Physiologic phimosis occurs naturally in newborn males. Pathologic phimosis refers to an inability to retract the foreskin after it was previously retractible or after puberty (usually secondary to distal scarring of the foreskin).

Hypospadias

unlike epispadias (where the meatus is on the dorsal aspect), this disorder is characterized by the urethral opening being ectopically located on the ventral aspect of the penis proximal to the tip of the glans penis. The urethral opening may be located as proximal as in the scrotum or perineum. The penis will commonly have associated ventral shortening and curvature (chordee), with more proximal urethral defects. Pathophysiology - it is a congenital defect occurring during the embryologic development of the urethra, between 8 - 20 weeks' gestation. It is purportedly caused by a defect in the development of the anterior/glanular urethra. Normally, its ectodermal core forms at the tip of the glans penis, developing in a proximal direction while canalizing to join with the more proximal urethra at the level of the corona. Additionally, failure of fusion of the urethral folds occurs.

Cryptorchidism - epidemiology

§ 30% incidence in preterm newborn males; reduced in term newborns (2.7 - 5.9%) § By age 6 months, 0.8% with persistent undescended testicle § Bilateral affliction in 10-20% of cases

Cryptorchidism - imaging

§ American Urological Association (AUA) guidelines recommend against imaging studies in boys with cryptorchidism prior to surgical referral. § Magnetic resonance angiography (MRA) ~ 100% sensitivity § Examination by pediatric urology proven to be more valuable than ultrasonography, CT scanning, or MRA

Phimosis - manifestations

§ An inability to retract the foreskin during routine cleaning or bathing § Painful erections, hematuria, recurrent urinary tract infections, preputial pain, weakened urinary stream § "Ballooning" of the prepuce during urination § On PE: o physiologic phimosis - the preputial orifice is unscarred and healthy-appearing o pathologic phimosis - a contracted white fibrous ring may be visible around the preputial orifice

Cryptorchidism - course and complications

§ An undescended testis may descend spontaneously during the first few months of life but is unlikely to do so after 6 months § Testicular Cancer (Seminoma - the m/c malignant tumor type associated with cryptorchidism) at age 15 to 45 years o unilateral undescended testicle risk: 1 in 80 o bilateral undescended testicle risk: 1 in 50 § Infertility o repaired unilateral cryptorchidism: 50-65% fertile o repaired bilateral cryptorchidism: 85% fertile § Indirect Inguinal Hernia (often present) § Testicular Torsion of cryptorchid Testicle

Renal agenesis - diagnosis

§ Antenatal ultrasound: can be identified in utero o general findings: absent kidney, absent ipsilateral renal artery, compensatory hypertrophy of the contralateral (opposite) kidney, lying down adrenal sign (elongated appearance of the adrenal not normally molded by the adjacent kidney) o bilateral agenesis features are much more dramatic and include: oligohydramnios or anhydramnios (after 17 weeks), non-visualization of the bladder § Postnatal US, CT scan, MRI: demonstrates absence of a kidney, with associated hypertrophy of the single kidney

Hydrocele - treatment

§ Asymptomatic adults with isolated noncommunicating hydroceles can be observed indefinitely or until symptomatic - INFECTION - TESTICULAR COMPROMISE § Surgery consists of three approaches o Inguinal - ligation of the processus vaginalis high within the internal inguinal ring (procedure of choice for pediatric communicating hydroceles, and must be used if testicular tumor is present) = TOC FOR PEDS*** o Scrotal - excision or eversion and suturing of the tunica vaginalis (recommended for chronic noncommunicating hydroceles). If a testicular tumor is present, this approach is avoided. o Sclerotherapy - adjunctive/definitive; involves scrotal aspiration and sclerotherapy of the hemiscrotum using tetracycline or doxycycline solutions. A last-resort treatment in poor surgical candidates with symptomatic hydroceles and in men in whom fertility is no longer an issue) § Complications: recurrence, pain and epididymal obstruction

Cryptorchidism - DDx

§ Congenital Adrenal Hyperplasia - 21 hydroxylase deficiency

Epispadias - Dx

§ Diagnosis in males is usually apparent at birth and does not require additional investigation § In females, diagnosis is difficult; requires careful identification of the external genitalia

Hydrocele - diagnosis

§ Diagnosis is clinical § Ultrasound of the scrotum in adults for suspicion of testicular tumor -> OWL SIGN o New-onset hydrocele o Hydrocele that hemorrhages after only mild trauma o Right-sided hydrocele (90% are on left) o Inability to clearly delineate or palpate the testicular structure o Local tenderness, fever, or any GI symptoms (eg, vomiting, constipation, diarrhea) o Internal shadows on transillumination § (COLOR ENHANCED) Duplex US if suspicion of torsion or varicocele § UA and cultures if suspected epididymitis or orchitis

Hypospadias - diagnosis

§ Diagnosis is generally made upon examination of the newborn infant § Diagnostic testing rarely warranted, unless other organ system anomalies are present

Epispadias - female hx and PE

§ Female epispadias can be categorized into vestibular, sub-symphyseal, and retro-symphyseal types § Classical PE findings: bifid (SPLIT) clitoris, anteriorly placed vaginal orifice, absent mons, and patulous urethral orifice with visible bladder neck

Paraphimosis - disposition

§ Following dorsal slit, advise wearing loose-fitting clothes, gentle washing the wound daily for the next 5-7 days, and refrain from any sexual activity for the next 6 weeks to prevent breakdown of the sutures and incision line § Follow-up with urology

Varicocele - Tx

§ Guidelines advise against varicocele treatment in infertile men who have normal semen analysis or in men with subclinical varicocele -> OBSERVATION § Medical treatment (for elderly or males without fertility concerns): testosterone supplementation for hypogonadism § Surgical correction (varicocelectomy) indicated: o to treat testicular discomfort or pain not responsive to routine symptomatic treatment o to reduce testicular atrophy o to improve male fertility/semen analysis § Techniques for varicocele repair include surgical ligation, injected sclerotherapy or directed embolization by interventional radiology. Approaches include: retroperitoneal, laparoscopic, inguinal, and subinguinal - microsurgical subinguinal approach is the gold standard.

Paraphimosis - prevention

§ Healthcare providers and patients alike should replace the foreskin to the anatomic position (covering the glans) following retraction § Circumcision

Varicocele - Dx

§ High-resolution color-flow Doppler ultrasonography is the diagnostic method of choice

Paraphimosis - etiology

§ Iatrogenic retraction of the foreskin during: penile examination, cleaning of the glans penis, urethral catheterization, or cystoscopy § Self-infliction, such as piercing with a penile ring into the glans § Placement of a preputial bead § Erotic dancing, vigorous sexual activity § Plasmodium falciparum or Haemophilus ducreyi (chancroid) infections § Contact dermatitis (eg, from the application of celandine juice to the foreskin) § Lichens sclerosus § Calcific uremic arteriopathy (calciphylasis) - occurs in DM or CKD

Renal dysplasia - prognosis/monitoring

§ If unilateral isolated kidney dysplasia, patients remain asymptomatic and without complications § Periodic surveillance: renal ultrasounds, blood pressure, urinalyses, renal function § Morbidity/mortality results from UTIs, HTN, neoplasia or associated congenital syndromes o Associated malignancies: nephroblastoma (Wilms tumor), renal cell carcinoma, nodular renal blastema

Hypospadias - epidemiology

§ Incidence: 1 in every 250 male births in US (doubled from 1970 to 1993) § Higher incidence in whites; more common in Jewish and Italian descents

Renal dysplasia - manifestations

§ Increased rates of UTIs, HTN and renal cancer § With multicystic dysplastic disease o abdominal flank mass in an otherwise healthy newborn - most common clinical presentation § mass is usually mobile, ballotable, irregular in shape, nontender, and might transilluminate § multicystic dysplastic kidney the most common cause of an abdominal mass in the newborn period o abdominal or flank pain and respiratory distress uncommon o gastric outlet obstruction MCC OF ABDOMINAL MASS IN NEWBORNS***

Hydrocele - prognosis

§ Inguinal repairs of communicating hydroceles are overwhelmingly successful ( < 1% recurrence observed)

Cryptorchidism - H&P

§ Key History Questions: - Has the testis ever been palpable in the scrotum? - Was the patient born prematurely? - Has the patient undergone prior inguinal surgery? - Is or was the patient's mother on a vegetarian diet? - Was the patient fed soy formula during infancy? - What was the patient's birth weight? § Nonpalpable testes: may be intra-abdominal or absent § Palpable testes: may be undescended, ectopic, or retractile § Most intra-abdominal testes are found within a few centimeters of the internal ring o when palpable, they are usually found in the superficial inguinal pouch or in the inguinal canal under the external oblique aponeurosis

Horseshoe kidney - manifestations

§ Largely asymptomatic; usually an incidental finding during radiological examination § Symptoms of obstruction, stones, or infection o M/C presentation in children: infection § Associated genitourinary anomalies in most patients o VUR (50%), ureteral duplication (10%), hypospadias or undescended testis (4% of males), bicornuate uterus or septate vagina (7% of females), several cases of autosomal-dominant polycystic kidney disease § Higher risk from blunt abdominal trauma

Epispadias - male hx and PE

§ Male epispadias is categorized into glandular, penile, and penopubic forms o Urinary incontinence associated with penopubic form (MOST PROXIMAL FORM) § Classical PE findings: a short, stubby, upward-pointing phallus with a dorsally-located meatus, dorsal chordee (ABNORMAL DORSAL BENDING OF THE PENIS) present with ventral hooding of the prepuce

Horseshoe kidney - management

§ Medical management as indicated of hydronephrosis, nephrolithiasis, urinary infections and any malignancy o If obstruction or hydronephrosis, extracorporeal shockwave lithotripsy (ESWL) prohibited***** o If pyeloplasty occurs, stones can be removed simultaneously with a flexible nephroscope and stone basket § Pyeloureteroplasty or ureterocalicostomy for Ureteropelvic junction (UPJ) obstruction o preferred approach is now laparoscopic dismembered pyeloplasty o robotic dismembered pyeloplasty using the da Vinci surgical system increasingly common

Medullary sponge kidney - etiology

§ Most cases are sporadic § A rare, familial, autosomal dominant form of the disease exists

Renal agenesis - treatment

§ Most individuals with unilateral renal agenesis lead normal lives: no specific treatment is necessary o However, increased risk of renal infections, nephrolithiasis, hypertension and/or renal failure § Bilateral agenesis is lethal: pulmonary hypoplasia is the most common cause of death

Hypospadias - presentation

§ Obtain a history for a familial pattern of hypospadias, comorbidity, conceiving difficulty requiring use of IVF § History of downward deflection of urinary stream, infertility or ventral curvature (chordee) with painful erections/difficult vaginal insertion o symptoms/morbidity exacerbated with more proximal location § Identify meatal location, glans configuration, skin coverage, and ventral curvature (chordee) § Classification - Anterior (glanular and subcoronal) - 50% - Middle (distal penile, midshaft, and proximal penile) - 30% - Posterior (penoscrotal, scrotal, and perineal) - 20%

Horseshoe kidney - epidemiology

§ Occurs in 1 per 400-800 live births; no known genetic determinant

Renal dysplasia - epidemiology

§ Occurs in approximately 1 out of 4,300 births § Slight male preponderance

Hypospadias - complications

§ Of surgical repair (greatest risk in posterior repairs): urethrocutaneous fistula, urethral diverticulum, meatal stenosis, wound infection, hematoma or dehiscence § Of non-treatment: urinary stream deformity, sexual dysfunction (associated with chordee), infertility

Epispadias - etiology/risk factors

§ Offspring of patients with exstrophy-epispadias complex have a 1 in 70 risk (500 times that of the general population)

Varicocele - presentation

§ Often asymptomatic; rather males seeking an evaluation for infertility after failed attempts at conception § May cause a mild pain (dull-ache or heaviness) exacerbated by standing or vigorous exercise § Mass lying posterior and superior over testicle § On PE: "Bag of Worms" feeling superior to the testicle o Decreased with patient supine, increased with patient upright and with Valsalva maneuver

Paraphimosis - manifestations

§ Penile pain § Glans swelling/enlargement, erythema and tenderness § Foreskin retracted proximally in a fixed position behind glans § Urinary catheter may be present § Necrosis/gangrene § In Peds patients, may manifest as acute urinary tract obstruction causing obstructive voiding symptoms

Horseshoe kidney - monitoring

§ Periodic renal US in children for the early detection of Wilms tumor § Periodic renal US adults, especially with hydronephrosis § Routine ultrasound for surveillance of kidney stone formation or growth § All patients with horseshoe kidneys and stones should undergo 24-hour urine tests for kidney stone prophylaxis

Phimosis - complications

§ Phimosis increases the risk of developing paraphimosis when the foreskin is forcibly retracted past the glans and/or the patient or caretaker forgets to replace the foreskin after retraction § Urinary retention/obstruction § Foreskin cellulitis § Balanitis § UTIs § Dyspareunia § Phimosis associated with up to 75% of cases of penile cancer (especially if > 5 years)

Phimosis - etiology

§ Physiologic phimosis - develops from adhesions between the epithelial layers of the inner prepuce and glans o Spontaneously dissolves with intermittent foreskin retraction and erections (80-90% of cases resolve by age 3) § Pathologic phimosis - M/C/C: recurrent episodes of balanitis/posthitis/balanoposthitis******. Other causes include poor hygiene or forceful retraction of the foreskin o Leads to scarring of preputial orifices causing pathologic phimosis. Forceful retractions cause microtears at the preputial orifice (leading to scarring and phimosis) o Elderly persons: loss of skin elasticity and infrequent erections

Epispadias - workup

§ Plain radiograph to document pubic diastasis § In children with incontinent epispadias: ultrasound KUB

Epispadias - prognosis

§ Post-surgical complications possible include urethral strictures/obstruction, persistent chordee, persistent short length, urethral retraction and hypospadias, and partial/complete penile loss (due to vascular interruption) § Post-surgical continence is achieved in 50-90% however nocturnal continence generally does not exceed 50%

Cryptorchidism - etiology and risks

§ Prematurity § Low birth weight § Small size for gestational age § Twinning § Maternal exposure to estrogen during the first trimester § Reduced breastfeeding and soy formula feeding § Familial: mutations in the homeobox gene HOXA10 (1/4 have + family hx) § Acquired: an initially descended testis may ascend out of the scrotum

Medullary sponge kidney - complications

§ Recurrent UTIs § Urinary obstruction

Cryptorchidism - management

§ Referral for BIL undescended testes or if associated GU abnormalities § Medical or surgical treatment centers upon: increasing the likelihood of fertility, reduction of testicular cancer, prevention of testicular torsion or injury of testis against pubic bone or to mitigate the psychological effects of an empty scrotum § For unilateral palpable ectopic or undescended testicle, observe for descent; surgical correction at 6 months - 1 year § For unilateral nonpalpable testicle, laparoscopy at 6 months - 1 year (testicle found in 50%; follow with orchiopexy) § Orchiopexy is the most successful therapy (98% effective) to relocate the testis into the scrotum o may reduce but does not prevent the potential long-term issues of infertility and testis cancer § Medical therapy: Primary hormonal therapy with hCG o hCG stimulates production of gonadal steroid hormones by stimulating the Leydig cells to produce androgens, which helps in testicular descent (MOA unknown) Treatment recommendations for postpubertal men § Men < 32 years with a unilateral undescended testis and normal contralateral testis: orchiectomy. § Men > 32 years with a unilateral undescended testis should receive close observation and physical examination. § Children with retractile testes should be monitored regularly, at least until puberty.

Paraphimosis - management

§ Removal of urinary catheter - may assist in spontaneous reversal § Pain management options o dorsal penile nerve block and circumferential penile ring block with lidocaine and/or bupivacaine o topical application of lidocaine or prilocaine creams o direct injection of anesthetic into the foreskin § NEVER EPINEPHRINE!********* § Reduce glans edema - prior to reduction techniques o circumferential compression of foreskin; hold for 2-10 minutes to "squeeze" edematous fluid along the penile shaft until foreskin floppy § May wrap glans penis in 2x2 gauze soaked in cold water for 10 minutes prior to reduction § Place granulated sugar, mannitol or dextrose water (osmotic agents) in a condom (or as a gauze-soak); apply condom to penis and paraphimosis; wrap with ice, secure with ace wrap or Coban® for 10 minutes o Reduction of glans: apply traction on the foreskin and countertraction on the glans simultaneously (hold foreskin with both hands and push glans through the paraphimosis) § For refractory cases, anesthesia using a dorsal penile block (or general) plus the following options: o The puncture technique - hypodermic (21G) needle to puncture the edematous prepuce at multiple sites to release trapped fluid o Injection of hyaluronidase into the edematous prepuce - well-suited to infants/children o Blood aspiration - rubber tourniquet around penile base; 18-20-gauge needle to aspirate corporal blood from glans o Dorsal slit (if refractory to all above) - dorsal slit of foreskin to allow foreskin reduction - commits patient to circumcision

Horseshoe kidney - diagnosis

§ Renal function testing § Urinalysis and urine culture § Voiding cystourethrography in all Peds patients (evaluate for VUR) § IVP/Excretory urogram § CT scan of the abdomen and pelvis, with and without intravenous contrast: the best initial radiologic study to determine anatomy and relative renal function o Also helpful to evaluate for the presence of stones, masses, or hydronephrosis · Renal ultrasonography can also assess for these § Preoperative arteriography to delineate the vascular anatomy

Renal dysplasia - dagnosis

§ Renal function testing § Urinalysis for proteinuria § Antenatal or Postnatal ultrasound is the first-line modality for evaluation of pediatric renal cystic disease o presence of at least one renal cyst (round, anechoic, thin-walled structure) within an abnormal kidney; in multicystic cases, multiple cysts of variable size are randomly arranged and are separated by little or no echogenic parenchyma o Abnormal kidney findings: hyperechoic parenchyma, absent or reversed corticomedullary differentiation, small kidney size, no renal pelvis identifiable o abnormality usually involves the entire kidney but can be localized to one segment of a kidney o typically, compensatory growth occurs in the contralateral kidney § Voiding cystourethrography (VCUG) should be performed to look for vesicoureteral reflux (VUR) o Perform bilaterally if unilateral multicystic dysplastic kidney § Dimercaptosuccinic acid (DMSA) renal scanning: may be necessary if US does not reveal the classic features of multicystic dysplasia § Diuretic radionuclide renography (most commonly with technetium Tc 99m mercaptoacetyltriglycine [MAG3]) can be used to rule out an obstruction § Cyst puncture with contrast installation: if severe UPJO cannot be differentiated from multicystic dysplastic kidney by US and renal scanning o Diagnostic finding: cysts connected by tubular structures and the absence of a collecting system

Medullary sponge kidney - diagnosis

§ Renal function testing: renal insufficiency (RARE) § Metabolic acidosis may occur secondary to renal tubular acidosis (RTA) (type 1 RTA or distal RTA) § Hyperparathyroidism § Urinalysis: hematuria (gross or microscopic), sterile pyuria, pH over 5.3 if RTA present § 24 hr urine for stone analysis: hypocitraturia and hypercalciuria o stone composition usually calcium phosphate (apatite) and calcium oxalate § Plain film KUB (least sensitive and least specific imaging test): may show calcifications § Renal ultrasound: characteristic echogenic medullary pyramids, renal stones § Excretory Urography/Intravenous Pyelogram (IVP)****: the most accurate method of identifying medullary sponge kidney o When contrast collects in dilated and cystic collecting tubules: radial, linear striations ("brushlike/bristles on a brush" patterns) in the papillae o With progressed disease, when contrast collects in cysts within the ectatic collecting ducts: "bunches of grapes" or "bouquets of flowers" § Noncontrast computed tomography (CT): higher sensitivity than excretory urography for the detection of kidney stones, hematuria and papillary calcifications o not sensitive for detecting ectasia of precalyceal tubules (required for the diagnosis of medullary sponge kidney) § CT urography performed via multidetector CT (MDCT): similar image quality as excretory urography; will demonstrate distinctive papillary blush o also useful in the assessment of associated cysts, horseshoe kidney, renal abscess, and papillary necrosis

Varicocele - red flags/DDx

§ Right-sided Varicocele without a left-sided Varicocele - evaluate for retroperitoneal mass compressing right spermatic vein (e.g., renal cell cancer) § Any varicocele that is not reducible in the supine position - evaluate for retroperitoneal mass § Sudden onset Varicocele in older man o Left: Assess for renal tumor and spermatic vein occlusion o Right: Assess for vena cava obstruction

Hydrocele - presentation (male)

§ Soft, nontender fullness within the hemiscrotum § Testis is generally palpable along the posterior aspect of the fluid collection (ie, hydrocele lies anterior) § + Scrotal transillumination § Hydrocele is not reducible (unlike inguinal hernia) § Communicating hydroceles can cause a large variation of sizes throughout the day/night § Overlying scrotal skin may have bluish tint

Medullary sponge kidney - management

§ Stone prevention and treatment: potassium citrate, urinalysis monitoring, abdominal plain films, hydration to achieve daily urinary output > 2L, standard nephrolithiasis management § Aggressive UTI prevention and treatment § Distal RTA: increase the urinary pH to a maximum of 7.0-7.2 with potassium citrate (to no greater than 7.5)

Epispadias - management

§ Surgical management of epispadias is challenging: requires technical expertise § Surgery aims to reconstruct the genitalia and urethra, providing optimal functional and cosmetic outcomes. o At present, two approaches utilized: Modified Cantwell-Ransley repair or the Complete penile disassembly technique.

Hypospadias - tx

§ Surgical repair o tubularized incised plate (TIP) repair: the most commonly used repair for both distal and midshaft hypospadias (urethral extension procedure) o ideal timing of repair as 6-12 months of age - later repair (pubertal and postpubertal period), is associated with complications (primarily urethrocutaneous fistula) in nearly 50% of patients. § Minor cases (ie, meatus is located distal to the corona on the glans) may not require surgical repair; may simply be managed with observation

Hypospadias - etiology/risks

§ Suspected multifactorial (genetic, endocrine and environmental) o Increased with family history (father), androgen & progesterone (e.g., from in-vitro fertilization (IVF) procedures) and estrogen exposure in utero

Renal dysplasia - management

§ Symptomatic management of resultant HTN, UTIs § Nephrectomy: to treat or prevent abdominal or flank pain, urinary tract infection (UTI), hypertension, or renal malignancy o If UTI: only if infection affects involved kidney o If HTN: only if HTN evidenced due to the kidney with multicystic dysplastic kidney o Nephrectomy not indicated: vesicoureteral reflux (VUR), pyelonephritis in the contralateral kidney, or recurrent episodes of cystitis § Renal transplant and dialysis may be needed for BIL disease

Medullary sponge kidney - monitoring

§ Symptomatic patients should be evaluated routinely using renal function tests, radiologic surveillance, and ultrasonography

Phimosis - management

§ Treat concomitant balanitis/balanoposthitis - topical antibiotics or antifungals § Topical steroid creams (eg 0.05% betamethasone) x 4-6 weeks (~90% effective) § Adjunctive preputial stretching exercises § Temporary measures (until urology consultation): hemostat dilation and Foley placement § Emergency urological referral for urinary retention/obstruction or foreskin cellulitis § Adult circumcision - surgical treatment of choice (indicated if failure of response/continued manifestations following medical therapy) o Local (dorsal penile nerve block) or regional anesthesia + dorsal slit or sleeve technique

Renal agenesis - epidemiology

§ Unilateral renal agenesis affects approximately 1 in 500 live births § Bilateral agenesis affects approximately 1 in 4000 live births. § Slightly greater male predilection

Renal agenesis - manifestations

§ Unilateral renal agenesis: asymptomatic. Occasionally secondary hypertension o Unless identified on antenatal screening, it's found incidentally when the abdomen is imaged for other reasons § Bilateral renal agenesis often has additional birth defects (associated with, and a result of the absence of kidneys): anhydramnios causing severe oligemia, pulmonary hypoplasia

Renal agenesis - etiology

§ Unknown, thought to occur at around early pregnancy (~6-7 weeks), thought to be multifactorial § Possible early vascular insult to the developing ureteric bud

Medullary sponge kidney - manifestations

§ Usually asymptomatic and discovered upon imaging for other disorders § Hematuria § Manifestations of nephrolithiasis, UTI, urinary obstruction, and nephrocalcinosis; rarely pyelonephritis § Physical exam generally unremarkable (except when associated with above conditions)

Varicocele - prognosis

§ Varicocelectomy superior to observation in infertile men with palpable varicoceles and impaired semen quality - improvements in erectile and ejaculatory function, and testosterone levels o 66-70% of patients have improved bulk semen parameters, and 40-60% of patients have increased conception rates.

Hydrocele - presentation (female)

§ Within the canal of Nuck: soft, nontender inguinal or labial swelling § + Labial transillumination

Medullary sponge kidney - epidemiology

§ Women > men § Found in 12 - 20% of patients with calcium nephrolithiasis § Prevalence in general population: 1:5000 population; 1 case per 1000 population in urology clinics

Hydrocele - risk factors/etiology

§ breech presentation § gestational progestin use § low birth weight § M/C/C in adult males worldwide: filariasis § M/C/C in adults (US): inadequate irrigation fluid aspiration following laparoscopic or transplant surgery

Varicocele - epidemiology

§ occurs in approximately 15-20% of all males § occurs in 40% of infertile males - the most common correctable form of male infertility