ABNORMALITIES OF THE EXTERNAL GENITALIA

Pediatric GU Review

UCSD Pediatric UrologyGeorge Chiang MD

Sara Marietti MD

Outlined from The Kelalis-King-Belman Textbook of Clinical Pediatric Urology 2007

(not for reproduction, distribution, or sale without consent)

Hypospadias

• Etiology– <10% have defect in testosterone

production or androgen receptor defects– Environmental endocrine disruptors– IVF, maternal age >35, monozygotic twins– 10% familial

Hypospadias

• Associated anomalies– Usually an isolated defect– Arrested development after 9 weeks which is after ureteral

bud induction therefore urinary tract imaging unnecessary– Intersex: 15% with palpable UDT

• 50% in nonpalpable UDT• CAH (bilateral nonpalpable)• MGD (1 UDT)• True hermaphrodite (UDT)

– Karyotype should be considered in UTD and penile anomaly

Hypospadias

• Pre-op hormonal therapy– Increase penile/glans size or improve vascularity – No difference between topical /parental although

elevated serum levels with excessive ointment– Side effects include aggressive behavior and

pubic hair growth which regresses after treatment stops (penile length also regresses)

Hypospadias

• Surgical complications– Corrected at least 6 months after prior

surgery– Fistulas: most common complication

• Reduce incidence with 2-layer closure, turning epithelium into neourethra, and barrier layers of spongiosum/dartos/tunica vaginalis

• Coronal fistulas best corrected by redo distal urethroplasty/glansplasty

Hypospadias

• Meatal stenosis– Technical error or ischemia– Late presentation may be BXO

• Urethral stricture– Most common at proximal anastomosis – Short strictures may resolve with IU– Longer/recurrent strictures may require buccal

• BXO– Last-onset of symptoms– White scar at meatus– Complete excision and staged buccal

Micropenis

• Stretched length <2 cm (normal formation is between 9-12 weeks)

• Etiology– Hypogonadotropic hypogonadism (50%); renal u/s since

dysplasia or agenesis common• Kallman’s syndrome• Noonan syndrome

– Heart disease and 50% UDT

• Prader-Willi• Laurence-Moon-Biel syndrome

– obesity, mental retardation, polydactyly, hypogonadism, and pigmented retinal dystrophy

• Down’s

Micropenis

• Hypergonadotrophic hypogonadism (25%)– Incomplete (LH receptor defects, testosterone

steroidgenesis, 5 alpha reductase activity, androgen receptor defects)

– Klinefelter’s

• GH deficiency (15%)• Idiopathic

Micropenis

• Evaluation– Karyotype– Newborns: serum LH,FSH, testosterone at birth and monthly

for 3 months to document postnatal surge– > 3months, hCG stim test– MRI to eval hypothalamus, pituitary

• Therapy– Androgen (IM testosterone) once monthly for 3 months or

monthly at puberty– Growth hormone

Interlabial masses

• Labial fusion– Low estrogen state after puberty– Local irritation– Treatment: topical estrogens or excision/suturing

• Prolapsed ureterocele– Bulging urethral mass, urinary retention– Tx: incision

Introital Cysts

• Paraurethral cycts– Eccentric – Dilation of skene’s glands: homologues of prostate– Present in newborns and rupture spontaneously or can be

punctured

• Gartner’s duct cyst– Mesonephric duct remnant along anteromedial wall of

vagina– Can cover ectopic ureter

• Vaginal rhabdomyosarcoma– Grape-like mass <2 yo

Cryptorchidism

• Phases in descent– Transabdominal: testis is located adjacent to

kidney at 8 weeks• Testis at internal ring by 21 weeks mediated by MIS

– Transinguinal: between 24-48 weeks descent through canal mediated by androgen

– Scrotal: testes moves from external ring to scrotum

Cryptorchidism

• Incidence:– 3.5% at birth decreasing to 1% at birth– Prematurity/low birth weight

• Pathology– By age 1 year there is decreased Leydig

cell, Sertoli cells, delayed disappearance of gonocytes, delayed appearance of spermatogonia and decreased germ cells

Basic Differences

• Congenital– Diagnosed at earlier age– May be located proximal

to external ring– Frequently in association

with wide open processus vaginalis

• Associated with epididymal deformities

• Acquired– Present later in

childhood– Usually located distal

to external ring– Associated with

absent or small hernia sac

• No association with epididymal deformities

Incidence

Incidence*

*The Epidemiology of Congenital Cryptorchidism, Testicular Ascent and Orchiopexy. Barthold et al.Jn of Urology, 2003

Incidence

• Most common genital anomaly identified at birth in males.

• “…not increased in the last few decades.”(Barthold et al, 2003)

Examine Incidence Data

1.) Spontaneous Descent

• Reported to occur in 50-70% usually by age 1 to 3 months in full-term males and/or ≥ 2500 gm.

Insert table Barthold, pg2397.

Clinical Implication:

• The recommended age of definitive treatment has trended down.

(Barthold et at, 2003)

• More recent data shows*:

– Spontaneous testicular descent is uncommon infants with cryptorchidism

• Occurred in only 6.9% of 278 patients

– Testicular descent occurring beyond 6 months is rare.

What is The Rate of Spontaneous Testicular Descent in Infants with Cryptorchidism?Wenzler et al. Journal of Urology, 2004

2.) Smaller/Premature Neonates

• Present differently:

Characteristic Premature % Full Term %

Cryptorchidism 8-20% 2-4

Bilateral presentation

50-75 10-45

Complete spontaneous descent*

*may occur later in first year of life

80-90 50-70

• Birth weight alone is the principal determinant of cryptorchidism at birth and 1 year of life– compared to IUGR, preterm, presentation

• Cryptorchidism Study Group:– ≤2000gm = 7.7%– 2000-2499gm = 2.5%– ≥2500gm = 1.41%

• At 3 months of age

Classification

Clinical Classification

Palpable: Retractile• Exaggerated cremasteric reflex pulls a normal testis out

of the scrotum at the least provocation

• Easily brought down and remains in orthotopic position after traction has been released

• Presents clinically between ages 3-7 years old

• Does not require therapy, however, should be monitored regularly until puberty, testis is no longer retractible and remains intrascrotal

Palpable: Ectopic

• Testes descend normally through the inguinal canal but deviates into unusual sites below the external inguinal ring

• 10% of extrascrotal testis• Sites:

– Denis-Browne pouch◄ most common• Superficial pouch between external oblique fascia and Scarpia’s fascia

– Femoral triangle, perineum, transverse scrotum

• Treatment is orchiopexy

Impalpable

Absent

• “Vanishing”

• Encountered during exploration for nonpalpable testis

• Anatomic hallmark is blind-ending spermatic vessel found proximal to the internal inguinal ring

Dysplastic

• Atrophic

• Small and usually very abnormal

• Torsion

Prevalence of Nonpalpable is 20-30%

Classify by Position

• Intra-abdominal Testis

• Prevalence 40%

•Located just inside the internal ring, usually within a few centimeters

• rarely in ectopic intra-abdominal positions

• Intracanalicular

• Prevalence 17%

• Between internal and external ring

• Difficult to palpate

• Extracanalicular• Suprapubic

• “Emergent”• Beyond external ring• Above level of pubis

• Infrapubic• Just below pubic

symphysis• Often just outside the

anatomic scrotum in the retroscrotal space

Cryptorchidism

• Pre-op Eval– Bilateral nonpalpable

• <3 months: serum LSH,FSH,testosterone• > 3 months:hCG stim test

– LH,FSH >3x suggests anorchia– No rise in testosterone after single hCG

requires additional hCG due to false negatives from unresponsive Leydig cells

– Undetectable MIS suggests anorchia

Cryptorchidism

• Unilateral nonpalpable– 50% have testes, 50% have testicular loss– Nubbins most found in upper scrotum indicating

loss after descent• Hemosiderin, variable calcification, fibrous tissue• Compensatory hypertrophy• Patent PV with apparent nubbin may indicate

intraabdominal testis is present• May be approached via a scrotal incision ?nubbin or

inguinal incision with peritoneal opening or laparoscopically

Cryptorchidism

• Gaining additional length– Incision of lateral RP attachments, Prentiss

maneuver– Intraabdominal testes and inguinal testes not

reaching pubic tubercle should have peritoneum preserved between vas and spermatic cord vessels to allow Fowler-Stevens

• FS transection should not occur after dissection of the hernia sac

Cryptorchidism

• Surgical complications– Testicular atrophy, retraction, ureteral obstruction, trocar

injuries

• Malignancy risk– 40% over general population; incidence .05-2%– Most common tumor is seminoma

• Infertility– Reduced transformation of fetal gonocytes into

spermatogonia at 3 months and reduced transformation of spermatogonia to spermatocytes at 5 years

– Unilateral 90% paternity; bilateral 62%– Monorchidism is not associated with decreased paternity

Cryptorchidism:Hormonal Tx

• hCG stimulates testosterone production• 1500IU/m2 IM 2x per week for 4 wk• More success in retractile, older kid, lower

testicles• Side effects – scrotal pigmentation, incr penis

size, pubic hair, regresses after cessation• Success depends on location, but pexy is

gold standard

Vasal Agenesis

• Associated anomalies– CF [65-95% of males with CF have vasal

agenesis, ED anomalies, or epididymal obstruction]

• Related to CFTR gene

– Other wolffian duct anomalies• Absence of epididymis• Absent seminal vesiclae

– Renal agenesis

Hernia/Hydrocele

• Hernia – protrusion of tissue/organ through opening in abdominal wall or fascia

• Non-communicating hydrocele – fluid from mesothelial lining, MC in adolescence

• Communicating hydrocele – patent processus, small, MC in children

• Hernia/Hydrocele - 1-3% of term infants• 3X more common in pre-term

H&P

• Painless lump/bulge, enlarges with straining

• 10% will present with bowel obstruction, vomiting, abd distention, abd pain

• Many times no PE findings, must rely on history

• Hydrocele of the cord – cystic swelling along the cord, not reducible

H&P

• If testicle not palpable – ultrasound to identify any underlying pathology

• If hernia is diagnosed, should not wait to repair because of risk of incarceration

• Simple non-communicating hydrocele – conservative management, may resolve spontaneously within first year

Management of Contralateral Side

• Incidence of patent PV is 90% if pre-term, 80% in newborns, 60% in child less than 1, 15-30% in adults

• Incidence of contralateral hernia after repair is 4-10%

• 85% of parents when given these numbers will choose to do bilateral exploration out of convenience

• Explore bilateral, ultrasound, pneumoperitoneum, laparoscopy, observe

Complications of Repair

• Complication rate increases if emergent vs elective

• Testicular ascent – 1%• Damage to cord – 1%, increased to 10%

when incarcerated• Recurrence – 3%, 20% in premature infants

(failure to dissect sac, tearing of sac, slipped suture)

• Hydrocele after hernia repair – 1%

Testicular Torsion

• Extravaginal torsion– Descent occurs around 28 weeks and torsion can occur

during this

• Nubbins– Most reside in upper scrotum indicating prenatal torsion

occurs usually after testis has descended

• Perinatal and postnatal torsion– Occurs shortly before or after birth with palpable mass and

discoloration of hemiscrotum– Indicate response to ischemia so urgent exploration unlikely to

salvage testicle– Controversy still exists re: prompt exploration for contralateral

pexy

Testicular Torsion

• Imaging– Doppler can be challenging in newborn

• Differential – Testis tumors: yolk sac, teratomas, juvenile

granulosa cell tumors– Inguinal vs. scrotal incision

Testicular Torsion

• Intravaginal torsion – Usually in puberty– Abrupt onset of pain and variable

nausea/vomitting– Within a few hours of onset, no edema or

erythema; high-riding and absent cremasteric

• Therapy: – reduce ipsilateral torsion and pex contralateral

Testicular Torsion

• Torsion of vestigial remnants– Young children present with signs of

scrotal reaction – “blue dot” sign– Less pain than testicular ischemia and are

comfortable at rest but bothered by movement

– Surgery is rarely indicated unless testicular torsion can’t be ruled out

Testicular Torsion

• Acute scrotum differential– Torsion, epididymitis, hydroceles, insect

bites, idiopathic scrotal edema, HSP

• Epididymitis– Infectious: usually diagnosed with UTI or

sexual activity with teens– Drug-related with amiodarone

Varicoceles

• 15% of males usually detected after age 10• 90% left sides• Typically large (Grade 3)• Testicular growth failure in up to 80% of grade 3

– Histological changes include tubular thickening, impaired spermatogenesis, maturation arrest, Sertoli cell degeneration

– Leydig cell changes most predictive of testicular damage• Leydig cell atrophy carried better prognosis for improved fertility• Leydig cell hyperplasia carries poor prognosis for fertility

– Increased LH/FSH may indicate Leydig cell and tubular dysfunction

Varicocele

• Rare if less than 10

• 10-15% incidence in adolescence

• Speculated etiology: incompetent valves, abnormal development, increased pressure from drainage into renal vein

Varicocele

• I – palpable only with valsalva

• II – palpable without valsalva

• III – visible through scrotal skin

• Testicular volume loss in 35% of II, 81% of III

Varicocele

• Decreased motility, more immature forms, impaired morphology

• Surgery can improve semen parameters in 50%

Presentation

• 3% are symptomatic (dull ache/pain)

• Thorough exam, standing and valsalva

• Operate for pain, bilateral varicocele, volume differential

Varicoceles

• Intervention:– Decreased volume >20%– Catch-up growth in 80%– Grade 3 varicocele

• Repairing all of these would result in all patients undergoing intervention although the incidence of male factor infertility is less than incidence of varicocele

• Complications– Persistence/recurrence– Hydrocele– atrophy

Treatment

• Percutaneous – coil migration, 11% hydrocele, 5% recurrence

• Inguinal – loupe or scope, can spare or take artery, 5% hydrocele, 15% recurrence, reduce both with use of microscope

• Artery sparing decreases hydrocele but increases recurrence

Surgical Treatment

• Palomo – Just above inguinal canal, muscle splitting, fewer vessels, vas separate from vessels, 7% hydrocele, 11% recurrence

• Sub-inguinal – microscope, hydrocele 0.8%, recurrence 2%

• Laparoscopic – hydrocele 7%, recurrence 15%

Post-Op Hydrocele/Recurrence

• 80% of post-op hydrocele will resolve gradually or after percutaneous drainage

• Recurrence is decreased by mass ligation as opposed to artery sparing

• Go after cord at higher level than first repair

QUESTIONS

A 15 year-old boy is undergoing revision of a colonic pull-through. During the operation, the left spermatic vessels are ligated and transected above the iliac vessels. The vas deferens is intact. Both testes are palpable in the scrotum. The next step is:

a) Observation

b) Intraoperative doppler ultrasound of testis

c) Microvascular reanastamosis of the spermatic vessels

d) Epigastric arterial revascularization

e) Left orchiectomy

In-vitro fertilization and ICSI is associated with which of the following birth defects

a) Multicystic dysplastic kidneys

b) Ureteral atresia

c) Hypospadias

d) UPJ obstruction

e) VUR

A 12 year-old boy has intermittent right scrotal pain for 2 weeks after being kicked in the groin. Both physical exam and U/A during an episode of pain are normal. Doppler ultrasound of the testis demonstrates normal flow, and a 5 mm subtunical cystic lesion in the lower pole of the right testis without internal echoes or calcification. The next step is:

a) Radical orchiectomy

b) Scrotal exploration and biopsy of the lesion

c) Repeat physical exam and u/a in 3 months

d) Repeat u/s in 3 months

e) Bilateral orchiopexy

A 2 year old boy undergoes a left inguinal exploration for a nonpalpable testis. At the internal ring, the vas deferens is noted to end blindly. The next step is:

a) Close

b) Close and then perform transumbilical laparoscopy

c) Explore peritoneal cavity

d) Explore the retroperitoneum

e) Close, then obtain CT scan

A 12 year-old prepubertal boy has severe right scrotal pain one day after being kicked in the groin. There is a bluish area over the superior portion of the testis but the examination is difficult due to a hydrocele. U/A is normal. The next step is:

a) Immediate exploration

b) Scrotal ultrasound with Doppler

c) Scrotal nuclear scan

d) Manual detorsion and delayed fixation

e) Observation with anti-inflammatories

An 11 year old boy has a swollen,ecchymotic scrotum 3 hours after being hit in the perineum. U/A is normal. The next step is:

a) Scrotal exploration

b) Isotope testicular scan

c) Doppler scrotal ultrasound

d) RUG

e) Scrotal elevation, ice, and bedrest

IVF is associated with an increased incidence of which GU anomaly:

a) Hypospadias

b) Wilms

c) Renal fusion abnormalities

d) Exstrophy-epispadias

e) UPJ

A 10 year old has a solitary right testicle on his physical exam for football. Left inguinal exploration has verified bline-ending gonadal vessels. The preferred recommendation is:

a) MRI Scan of the abdomen and pelvis

b) Laparoscopy

c) Abdominal exploration

d) He play football using a cup

e) He not play football

In men with a history of surgically treated cryptorchidism, the factor which most influences the risk of developing testicular cancer is:

a) Original location of the testis

b) Gonocyte transformation failure

c) Testicular-epidydmal nonunion

d) Carcinoma in situ

e) Age at orchiopexy

A 10 year old boy has a perineal “butterfly” hematoma following a straddle injury. This suggest rupture of the:

a) Tunica albuginea

b) Corpus spongiosum

c) Corpus cavernosum

d) Posterior urethra

e) Colles’ fascia

The most frequent histologic finding in the cryptorchid testis of a 4 year old boy is:

a) Decreased number of germ cells

b) Increase in peritubular fibrosis

c) Late maturation of the Sertoli cell

d) Alteration of the tubular basement membrane

e) Decreased number of interstitial cells