Cryptorchidism

Kavitha Selvaraj, MS3

2/25/11

Definition

-        Failure of one or both testes to descend into the scrotum as the male fetus develops

Epidemiology

-        2-5% of full-term and 30% of premature male infants are born with an undescended testicle

-        May affect one or both testes; 10 percent of cases are bilateral

-        Among the unilateral cases, there is a left-sided predominance

-        Most common locations: just outside the external ring, inguinal canal, abdomen

-        Often co-morbid with:

o    congenital disorders of testosterone secretion or action (e.g. Kallmann syndrome)

o   abdominal wall defects

o   neural tube defects

o   cerebral palsy

o   various genetic syndromes (trisomy 18, trisomy 13, Noonan syndrome, Prader-Willi syndrome, Laurence-Moon-Biedl syndrome)

Pathogenesis

-        Passage through the inguinal canal begins in the 28th week of gestation

-        Failure to descend may be due to gonadotropin deficiency in utero, decreased Mullerian inhibiting factor, or increased estradiol in the placenta

-        Absent testes are due to agenesis or intrauterine vascular compromise (eg, torsion).

Differential Diagnosis of Cryptorchidism

-        Retractile testis - usually can be diagnosed with careful history and physical

-        Undescended testis

-        Ectopic testis

-        Agenesis - all testicular structures (eg, testis, testicular vessels, vas deferens) are absent

-        Intrauterine torsion - remnants of the normal testicular architecture typically are present

-        Congenital adrenal hyperplasia – look for salt-wasting syndrome

-        Disorder of the androgen receptor

-        True hermaphroditism

History

-        Endocrine disturbance during pregnancy?

-        Family history of unexplained neonatal deaths or genital anomalies?

-        Abnormal pubertal development?

-        Infertility  issues?

-        Were the testes were in a scrotal location in the neonatal period? (ie, before the cremasteric reflex becomes active)

Physical

-        General: look for syndromic features

-        Genital:

o   Note the testicular position, consistency, and size in relation to the opposite testis

o   Hypoplastic or poorly rugated scrotum or hemiscrotum

o   Inguinal fullness

o   Sweep hand from down the inguinal canal to gently express any retained testicular tissue into the scrotum.  Hold the testis down for at least  1 minute. This fatigues the cremasteric muscle; when you let go, a retractile will remain in the scrotum whereas an ectopic testis immediately springs out of the scrotum.

o   Bimanual digital rectal examination (under general anesthesia)

o   Hypospadias + cryptorchidism à think intersex states

Labs

-        In infants:

o   Karyotype

o   Electrolytes

o   LH, FSH, testosterone, müllerian inhibiting factor

o   Adrenal hormones and metabolites (eg, 17-hydroxyprogesterone)

-        In older children: testosterone, LH, FSH, and MIS

Imaging

-        Imaging usually lacks sensitivity in detecting nonpalpable testis

-        Consider ultrasound:

o   To look for gonads and exclude the presence of a uterus

o   In obese boys (testes may be difficult to feel on exam)

Complications

-        Complications often minimized by prompt recognition and timely referral for treatment

-        Testicular germ cell cancers

o   NOTE: surgical correction of malposition (orchiopexy) reduces but does not eliminate the risk of having testicular cancer

-        Subfertility

o   Related to the effect of testicular temperature on spermatogenesis

o   Associated with lower sperm counts, sperm of poorer quality, and lower fertility rates

-        Testicular torsion

o   Seen predominantly in neonates and postpubertal boys

o   Often occurs in association with the development of a testicular tumor (growing mass twists on itself)

-        Inguinal hernia

o   90% of undescended testes are associated with patent processus vaginalis

o   May present with an incarcerated or strangulated inguinal hernia

Treatment

-        Timing is key!! Changes related to fertility occur in the undescended testicle as young as 1 year of age; thus orchiopexy is best performed before the changes occur, ideally as soon as possible after 6 months of age

-        Treatment can be hormonal, surgical, or both

-        Hormonal

o   Descent sometimes can be induced with hCG

o   GnRH appears to be comparable to hCG in achieving testicular descent but is not approved for use in the US

-        Surgical

o   Orchiopexy

§  If testicle is palpable.

§  The testicle is manipulated into the scrotum and sutured in place.

§  The most significant complication of orchiopexy is testicular atrophy (rare).

o   Exploration

§   If testicle is non-palpable.

§  May approach openly through groin or laparoscopically.

§  This procedure determines whether or not the testis is present, positions and fixes viable testes within the scrotum; and removes nonviable testicular remnants.

Sources

1.     Barthold, JS, González, R. The epidemiology of congenital cryptorchidism, testicular ascent and orchiopexy. J Urol 2003; 170:2396.

2.     Berkowitz, GS, Lapinski, RH, Dolgin, SE, et al. Prevalence and natural history of cryptorchidism. Pediatrics 1993; 92:44.

3.     Cortes, D. Cryptorchidism--aspects of pathogenesis, histology and treatment. Scand J Urol Nephrol Suppl 1998; 196:1.

4.     Husmann, DA, Levy, JB. Current concepts in the pathophysiology of testicular undescent. Urology 1995; 46:267.

5.     "Undescended testes (cryptorchidism) in children and adolescents." UpToDate, 29 September 2010.

6.    Rabinowitz, Ronald and Hulbert,William. Cryptorchidism. Pediatrics in Review July 1994.

7.   Ferrer and McKenna Current Approach to the undescended testicle.  Contemporary Pediatrics January 2000

8    .Elder Jack. Ultrasonaoraphy is Unnecessary in Evaluating Boys with a Nonpalpable Testis Pediatrics October 2002

9   . Cheng T. Undescended Testis Pediatrics in Review 2000 21:395

10.  Pettersson A. et al. Age at Surgery for Undescended Testis and Risk of Testicular Cancer.  NEJM May 3, 2007