Endo2: Congenital Genital Anomalies In Males

Front 1

Male congenital anomalies possible locations

Back 1

Penis - most common
Scrotum
Testis

Front 2

Hypospadias, Prevalence, Causes, Types, Associated anomalies

Back 2

Abnormal ventral urethral opening anywhere from glans to perineum

Anterior 60%, Middle 20% or Posterior 20%

Causes:
Hereditary - 1/5 pass to child
Environmental antigens - increasing prevalence

1:250 male births

Associated anomalies
a) Unilateral undescended testicle (possible Wolffian duct abnormality, renal ultrasound, chromosome)
b) Non palpable (red flag, evaluate Disorder of Sex Development)
c) BIL descended testicles (GOOD prognosis, limited eval)

Front 3

Glanular hypospadias, clues

Back 3

Pit inferior to urethra with dorsal raphe in midline inferiorly that deviates as it moves superiorly

Dorsal hood fails to encircle the glans penis

Front 4

Megameatus, clues

Back 4

Large opening, no longer considered a circumcision injury, leaving foreskin intact is helpful, no fertility problems but possible urinary problems

Clues
Noted after circumcision, straight shaft, complete foreskin, occasionally dorsal hump

Front 5

Associated anomalies with hypospadias

Back 5

Penis-Scrotum Transposition - opening central in bifid scrotum. Scrotum not inferior to penis as usual

Bifid Scrotum

Prostatic Utricle - catheter enters utricle not bladder if instrument

Front 6

Buried penis, risk

Back 6

Look for ski slope (lack of significant angle from pubic bone to penis),

Clues
Loss of penopubic angle, limited ventral penile shaft tissue, tethering dorsal bands

DO NOT CIRCUMCISE, defer formal reconstruction until child is older, required to release preputial band

Front 7

Penile Malformations

Back 7

Chordee - hooked
Penile torsion - twist greater than 90 degrees, requires surgery
Penile torsion-fusion-hypospadias - twisted penis, fused to scrotum with hypospadias
Urethral duplication - can be independent or single bifurcated urethra
Lymphadema - swelling due to disrupted lymphatics, DO NOT CIRCUMCISION
Blind scrotum, hypospadias and transposition - duplicated scrotum and phallus with primary bifid scrotum

Front 8

Extrophy-Epispadias, Prevalence, Causes, Development, Future risks, Male vs female, Treatment

Back 8

Rare, Male 5x greater than females

Genetic, but only 1/70 passing chance

Bladder exposed on top of skin with penis retraction and open urethra

Growth of urorectal septum (future perineum) should separate hindgut and bladder while abdominal wall closes over bladder

In exstrophy - portion of abdominal wall doesn't close leaving bladder part exposed OR growth of urorectal septum may abort prematurely presenting as open cloaca exposing the bladder

Male - pubic bones not connected in midline, pulled up along with penis, short penis, normal internal organs so fertility MAINTAINED. Short urethral plate

Female - bladder is exposed and clitoris is bifid, each housing an erectile body which must be reapproximated during surgery, internal genitalia normal

Treatment: surgical correction around 4th month either staged with good outcomes

Front 9

Anomalies associated with extrophy-epispadias

Back 9

Vesicouretral reflux - 100%, easy to treat
Bilateral hernias - 80% males, 10% females
Low set umbilicus
Widening of symphysis pubis due to defect in abdominal wall closure, "pulled out" defect of pubis causes widened, turned out, waddle gait, corrects over time
Shortening of pubic rami
Anteriorly displaced anus
Rectal prolapse

Front 10

Isolated Epispadias, Prevalence, Tx

Back 10

Prevalence:
1:100,000 Male, 1:400,00 female

Rare with fewer consequences, similar to hypospadias EXCEPT for dorsal defect

Bladder is formed and abdominal wall has closed but development stopped short of urethra tubularizing

Continence problems variable (vs always in exstrophy) depending on state of urethra.

Tx - Serial surgery
Male - penile dissasembly and bladder neck repair if needed
Female - urethral lengthening to prevent bladder prolapse, bladder neck repair if needed

Females look cosmetically normal; urethra and sphincter must be recreated; often have wetting problems

Front 11

Cloacal Exstrophy Cause, Prevalence

Back 11

Cause: hindgut does not separate off bladder and colon, have symmetric hemibladder, cecum and prolapsed ileum, omphalocele.

Bowel and bladder incontinence,

May have spinal cord tethering or another anomaly

Prevalence
1:200-400,000, males more

Front 12

Triad Syndrome

Back 12

"Prune Belly Syndrome" = Eagle Barrett

Lax abdominal wall muscles - no tone
Upper urinary tract dilation - ureters and kidney dilated and floppy
Intra-abdominal testicles (not descended)

Swollen abdomen causes loops of dilated ureters, doesn't drain in urethra

Front 13

Undescended Testicle, Prevalence, When to treat, Types, Other Risks

Back 13

Normally transinguinal descent occurs rapidly between 24-28 weeks of gestation and is complete by third trimester

3% newbornes have undescended testicle, 0.8% at 1 year, related to PREMATURE birth

Treat - at 1 year, if not dropped, surgery

Types MOST are unilateral (75%), Right sided (70/30), rarely abodminal or absent

Risks: 90% have patent processus vaginalis which is an indirect hernia risk

Front 14

Normal Testicular Descent process

Back 14

Gubernaculum under hormonal and neural control contracts causing testicle to drop along with peitoneal lining

Tethered in scrotum after migrates, processus vaginalis (remnant gubernaculum) closes, if doesn't hernia risk

Part around testicle becomes tunica vaginalis with small fluid amount, too much is called a hydrocele

Front 15

Hydrocele exam

Back 15

too much fluid in tunica vaginalis

transillumination of scrotum may appear blue, resolves upon closure of tunica vaginalis

Front 16

Testicle Descriptions

Back 16

Normal

Undescended - can be found anywhere along NORMAL path of testicular descent

Retractile - normal condition, testicle completed descent and is in going, can be retraced upon various stimuli such as cold temperature or cremasteric reflex testing

Ectopic - descended testicle has deviated from normal path of descent

Front 17

Testicle PE req, Diagnostics, when to treat placement, associated risk, Treatment

Back 17

PE: warm room, hands, comfortable pt to test cremasteric reflex (tongue depressor along inner thigh and see retraction of testicle

Diagnostics -
NO imaging for unilateral, undescended testicle
Nonpalpable testicle needs laparoscopy
BIL, undescended, non-palpable needs workup for disorder of sex development
Chromosomes - LH/FSH, testosterone;
HCG stimulation test to see if testosterone levels rise (checking to see if there)

When to Treat
Need to treat disorders of placement (undescended, ectopic) by 2 years (germinal depletion) old due to negative impact on spermatogenesis and infertility risk esp if BIL. MANY say fix at ONE YEAR

Risks
Cancer risk for undescended testicle reported to be high, increases with location (abdominal >> inguinal)

Treatment
a) HCG - no long term value, may differentiate retractile from undescended and increase gonadal vessel growth
b) Operation at 1 year

Front 18

Biggest red flag needing workup for Disorder of Sex Development

Back 18

BIL, undescended, non-palpable testicle

Front 19

Most common tumor of undescended testicle

Back 19

SEMINOMA

Risk increases if intraabdominal and non-palpable

Front 20

Scrotal lesions

Back 20

Hernia/hydrocele
Bifid scrotum
Lymphedema
Varicocele

Front 21

Cause of pediatric hernias

Back 21

MOSTLY indirect hernias through a patent processus vaginalis

Adults more likely direct through weakness in floor muscle of inguinal canal

Front 22

Inguinal Hernia, Prevalence

Back 22

Indirect hernia through patent processus vaginalis

8x more in male, usually premature

Front 23

Hydrocele, Indirect hernia/hydrocele

Back 23

Smaller hydroceles regress with time, blue on transillumination due to fluid present in tunica vaginalis

Indirect hernia/hydrocele - fluid fills the tunica vaginalis through a patent processus vaginalis to cause communicating hydrocele, when intestine enters processus vaginalis it is a hernia

Front 24

Testicular tethering, risk

Back 24

Normal position of testicle is vertical tethered posteriorly with tunica vaginalis surrounding only on posterior

IF tunica vaginalis surrounds most of entire testicle (tethering), risk of spinning, twisting spermatic cord and infarction if becomes tethered horizontally . Bell-clapper twist leading to testicular torsion and infarction risk

Urologic emergency, only a couple hours to restore blood flow

Front 25

Neonatal torsion

Back 25

Torsion prenatally, born with infarcted testicle, newborn exam important to avoid infarction

Front 26

Varicocele, Prevalence, Right vs Left, Sx, Tx

Back 26

Prevalence - 16% of boys, equal to adult incidence

Dilated gonadal veins, usually on left due to left gonadal vein draining into left renal vein (right gonadal drains to IVC which is lower pressured)

Significant left renal vein pressure due to kidney blood flow can overcome pressure and transmit backward over valves to dilate gonadal veins

Similar to varicose leg veins

Right-side associated with MALIGNANCY

Sx: Rarely pain except if work on feet, risk of infertility (40% of men)

Tx: Treat when pain is present, dissatisfaction with appearance, or when there is testicular growth discrepancy