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Board Questions:
1. A 2 month old boy presents for a health supervision visit. Physical examination
reveals a normally growing and thriving infant whose left testis is easily palpable but
whose right testis cannot be palpated. The remainder of his physical examination
results are normal. Of the following, the MOST appropriate approach is to:
a. Order chromosomal studies to confirm genetic sex
b. Order pelvic ultrasonography
c. Plan for surgical exploration at 6 months of age
d. Plan for surgical exploration at 2 years of age
e. Refer the child immediately for urgent surgical consultation
2. As you are examining a newborn boy in the nursery, you notice that his testicles are
not in the scrotum, and you are unable to palpate them in the inguinal canal. You tell
his parents that you will be following this closely because of the risk of infertility and
malignancy at that surgical correction may necessary if the testicles do not descend
into the scrotum. Of the following, the MOST appropriate age at which surgical
correction should take place if the testicles do no descend is:
a. 1 month
b. 2 months
c. 1 year
d. 2 years
e. 5 years
3. You are called to see a newborn who appears to be a male and has a well developed
rugated scrotum without palpable testes. The phallus is 3.5cm in length, but there is
hypospadias extending to the base of the phallus and what seems to be an open
urogenital sinus. It is hard to determine whether there is a separate urethral opening.
On reviewing the maternal records, you discover that prenatal amniocentesis obtained
because of advanced maternal age showed an XX chromosomal pattern. You arrange
a complete initial evaluation for a potential disorder of sexual differentiation. Of the
following, the MOST important initial test to obtain on this child is:
a. Fluorescence in situ hybridization for sex determining region of Y
chromosome
b. Measurement of serum 17-hydroxyprogesterone
c. Measurement of serum testosterone
d. Pelvic ultrasound
e. Repeat confirmatory chromosome study
American Board of Pediatric Content Specifications:
1. Distinguish between undescended testes & retractile testes
2. Plan the appropriate management of a patient with undescended testes
3. Know the pathophysiology and natural history of cryptorchidism
Retractile: testes are suprascrotal testes that can be brought into a dependent
scrotal position and will remain there if the cremasteric reflex is overcome. In
longitudinal studies over 3 years showed:
o 32% become undescended (ascending or acquired undescended)
o 30% descended spontaneously
o 38% remained retractile
Epidemiology:
Prevalence:
o 2-5% of term males are born with undescended testicles
o 30% of preterm males are born with undescended testicles
o The prevalence increases again to 7% for school age boys due to acquired
cryptorchidism (ascending testis).
o Congenital undescended testicle present beyond 1 year is 0.8-1.1%.
Location:
o 10% are bilateral; when unilateral left side more common
o The most common location is outside the external ring > inguinal canal
>abdomen; 20% of cases have at least one nonpalpable testis
Risk Factors: Preterm Birth, low birth weight, small for gestational age, twin gestation
Occurs more commonly among patients with:
o Congenital disorders of testosterone: Kallman syndrome
o Abdominal wall defects
o Neural tube defects
o CP
o Genetic syndromes: Trisomy 13 & 18, Noonan, Prader-Willi
DDX: A phenotypically male newborn with bilaterally nonpalpable testes
Genetic female with CAH; disorder of the androgen receptor; a true
hermaphrodite; hypothalamic-pituitary insufficiency; anorchia.
Work up includes chromosome analysis, electrolytes, and full endocrine work up.
Evaluation:
Visual inspection for hypospadius, abnormalities of the scrotum (hemiscrotum or
poorly developed scrotum), look for inguinal fullness.
Perform examinations at all well child examinations (AAP & AUA guideline)
Examination Maneuvers: 70% of undescended testes are palpable by physical
exam
o have child sit in the cross-legged position (tailors position)
o place a warm compress along the inguinal canal
o place the child in the knee-chest or squatting position
o have older child stand and perform the valsalva maneuver.
o holding the testis that can be manipulated in the dependent portion of the
scrotum in position for at least 1 min. fatigues the cremasteric muscle;
after this maneuver, a retractile testis remains in the scrotum whereas an
ectopic testis immediately springs out of the scrotum
Complications:
Labs: Not warranted except for the situations below, See attached guidelines (American
Urological Association 2014)
Assess for the possibility of sex development disorder when there is increasing
severity of hypospadias & cryptorchidism (RECOMMENDATION, GRADE C)
o Karyotype, electrolytes (looking for female with CAH), 17hydroxyprogesterone, LH, FSH, testosterone, androstenedione
o Consult with pediatric urologist & endocrinologist
In boys who do not have CAH with bilateral non-palpable testes, providers should
measure Mullerian Inhibiting Substance (MIS or Anti-Mullerian Hormone -AMH)
and consider additional hormone testing to evaluate for anorchia (OPTION,
GRADE C)
Imaging: Not warranted in evaluation of boy with non-palpable testis secondary to lack
of sensitivity & specificity. However, may be advisable in the following circumstances:
To look for gonads & exclude presence of a uterus in phenotypically male infant
with bilateral non-palpable testes
In obese males, in whom intracanalicular testes may be difficult to feel
Referral: See attached guidelines (American Urological Association 2014)
Cryptorchidism: any undescended testis at or after the age of 6 months should be
referred for orchiopexy. It is not recommended to perform US for nonpalpable
testis prior to referral (STANDARD, GRADE B EVIDENCE)
Retractile testes: should be followed annually until the outcome of descent or
non-descent is clear, which in many cases will be until puberty.
4
Treatment:
Goal: to achieve improved spermatogenesis in the undescended testis; bring testis
into scrotum to better monitor for development of cancer.
Hormonal: Human chorionic gonadotropin (HCG) therapy stimulates leydig cells
to produce testosterone. Most successful for the most distally undescended testes
or for testes that have been previously descended. Side effects include penile
enlargement, growth of pubic hair, increased testicular size, aggressive behavior,
and premature epiphyseal closure. Not the preferred treatment, not
recommended in new AUA guidelines (STANDARD, GRADE B).
Orchiopexy: operation for the palpable undescended testis. The testicle is
manipulated into the scrotum and sutured into place. A rare complication is
testicular atrophy due to dissection of the testicular vessels, postoperative
swelling and inflammation leading to ischemic injury.
1. Surgery should occur within 1 yr after referral (by 18 months)
(STANDARD, GRADE B) to preserve fertility
2. Progressive loss of germ & leydig cells over time
Exploration: 2 Managements for nonpalpable testis: either open inguinal
approach or laparoscopic approach
1. Surgeons should perform exam under anesthesia prior to proceeding in
pre-pubertal boys with undescended testicles (STANDARD, GRADE B)
Board PREP Answers:
#1: PREP 2012, #73: C
#2: PREP 2010, #51: C
#3: PREP 2010, #170: B
References:
2. Callagham P, Cheng T. Undescended Testis. Pediatr. Rev.2000; 21;395
3. Cooper C, Docimo S, Drutz J. Undescended testes (cryptorchidism) in
children & adolescents. Uptodate May 2012
4. Elder J. Ultrasonography is unnecessary in evaluating boys with a
nonpalpable testis. Pediatrics 2002 110 (4): 748-751
5. Kokorowksi PJ, Routh JC, Graham DA, Nelson CP. Variations in timing
of surgery among boys who underwent orchidopexy for cryptorchidism.
Pediatrics 2010; 126; e576-582.
6. Ritzen M. Treatment of undescended testicles-how, when and where? Acta
Paediatrica 2007 96: 607