Pediatric Urology & Pediatric Surgery
Cryptorchidism (undescended testicle)
Cryptorchidism - from the Greek kryptos (hidden) and orchis (testis) - refers to the absence of one or both testes in their normal anatomical position at the bottom of the scrotum, resulting from a stoppage or anomaly in the testicular migration process that physiologically leads the testis from its initial retroperitoneal position (at the level of the fetal kidney) to the scrotum during intrauterine development and the neonatal period. It is the most common genital birth defect in boys, affecting 2 to 4 % of full-term boys and up to 30 % of premature babies - testicular migration being a process that is completed mainly in the last months of gestation. Around 70 to 80 % of unilateral cryptorchidism resolve spontaneously within the first 3 to 6 months of life through late testicular descent - which explains why the prevalence at one year of life falls to around 1 % of boys. On the other hand, a testicle that has not descended spontaneously before 6 months of age is very unlikely to migrate on its own, and requires active therapeutic management. The clinical significance of cryptorchidism goes far beyond simple anatomical malposition: the cryptorchid testicle, exposed to a body temperature higher than the optimal temperature for spermatogenesis (34-35°C in the scrotum vs. 37°C in the abdominal cavity), undergoes progressive and irreversible alteration of its germ cells if not corrected early on - resulting in a risk of infertility and a multiplied risk of testicular cancer in adulthood. These two complications, which can be avoided or mitigated by early orchidopexy (ideally between 6 and 18 months of age), justify the universal recommendation of surgical treatment without delay as soon as the diagnosis is confirmed. Management is based on systematic diagnosis at birth by neonatal clinical examination, reassessment at 3 and 6 months to confirm spontaneous descent or its absence, and early urological referral to plan orchidopexy.
Classification of cryptorchidism
| Type | Anatomical description | Frequency and special features |
|---|---|---|
| Cryptorchidism (testis stopped migrating) | Testis located on the normal migration path - from the retroperitoneal lumbar region to the internal inguinal ring, inguinal canal, external inguinal ring or top of scrotum - but has not reached the bottom of the scrotum | Most frequent form (80 % of cryptorchidies); sub-classification according to position: abdominal (10-15 % - above the internal inguinal ring), inguinal (70-75 % - in the inguinal canal), and at the entrance to the scrotum (15-20 % - high scroto-inguinal); the inguinal testicle is palpable in 80 % of cases. |
| Ectopic testicle | Testis has left the normal migration path to settle in an aberrant position - perineum, femoral region, pubic region, base of penis or contralateral scrotum. | 5-10 % of undescended testes; the perineal ectopic testicle is the most frequent ectopic form; often associated with normal anatomy of the vas deferens and testicular vessels - which facilitates surgery |
| Impalpable testicle | Testis not palpable on clinical examination - may be high in the abdomen, atrophic (vanishing testis), or absent (anorchidism) | 20 % of cryptorchidism; requires diagnostic laparoscopic exploration to locate the testicle (present in 50 % of cases at laparoscopy) or confirm its absence (anorchidism); if abdominal testicle found: two-stage Fowler-Stephens orchidopexy (section of spermatic vessels + neovascularization by the deferent). |
| Ascending testicle (acquired cryptorchidism) | Testis initially present in the scrotum, secondarily raised in the inguinal canal during growth by traction of the short or fibrous spermatic cord. | 5-10 % of cases; often diagnosed between 4 and 10 years of age during routine examinations; should not be confused with a retractile (mobile) testicle; surgical treatment identical to congenital cryptorchidism |
| Retractile testicle | Testis normally descends into the scrotum but temporarily ascends into the inguinal canal due to hyperactivity of the cremasteric reflex - descends spontaneously or on manual traction | Common between 2 and 7 years of age - peak activity of the cremasteric reflex; must be distinguished from true cryptorchidism (the retractile testicle can be brought back into the scrotum and remains there for a few seconds without tension); annual monitoring until puberty - risk of becoming ascending in 30-40 % of cases |
Etiology and risk factors
- Prematurity: most strongly associated risk factor - testicular descent is mainly completed between the 28th and 36th week of amenorrhea; prevalence of 30 % in very premature infants (before 28 weeks' amenorrhea) versus 2-4 % in full-term infants.
- Low birth weight (small for gestational age): insufficient production of placental hCG and fetal testosterone required for testicular migration; association independent of degree of prematurity
- Hormonal factors: deficiency of human chorionic gonadotropin hormone (hCG) or fetal LH (congenital hypophysogonadal insufficiency - Kallmann's syndrome, hypopituitarism); partial insensitivity to androgens (mutation of the androgen receptor); INSL3 deficiency (Insulin-like factor 3 - hormone produced by Leydig cells ensuring attachment of the gubernaculum to the groin during the first phase of migration).
- Exposure to endocrine disruptors in utero: maternal exposure to organochlorine pesticides, phthalates, bisphenols and other xenoestrogens during pregnancy - reduced fetal testosterone synthesis and disruption of androgen signaling; testicular dysgenesis syndrome (TDS) hypothesis linking cryptorchidism, hypospadias, oligospermia and testicular cancer to a common fetal hormonal disruption
- Family history: risk multiplied by 4 to 6 if a brother or father has cryptorchidism - polygenic genetic component; gene mutations INSL3, RXFP2 (INSL3 receptor), AR (androgen receptor) identified in certain families
- Associated anatomical anomalies: ipsilateral congenital inguinal hernia (present in 90 % of cryptorchidism due to persistence of the vaginal process); hypospadias (5-10 % of bilateral cryptorchidism - sexual differentiation work-up mandatory if hypospadias + bilateral cryptorchidism).
- Polymalformative syndromes: trisomy 21, Prader-Willi syndrome, Noonan syndrome, Klinefelter syndrome (XXY - cryptorchidism in 20 % of cases)
Long-term complications
- Impaired fertility: extra-scrotal heat leads to progressive apoptosis of spermatogonia (stem cells of spermatogenesis) and Sertoli cells from the first months of life; histological studies show a significant reduction in the number of spermatogonia per seminiferous tubule after 2 years without treatment; orchidopexy before 12-18 months significantly preserves spermatogenesis; fertility: 90 % after early orchidopexy for unilateral cryptorchidism, 65-75 % for bilateral cryptorchidism treated early, versus 50 % in case of late treatment
- Increased risk of testicular cancer: multiplied by 3 to 5 compared with the general population for cryptorchid testis (mostly seminoma) - residual risk even after early orchidopexy but significantly reduced compared with no treatment; absolute risk estimated at 1 in 500 to 1 in 2,500 (vs. 1 in 3,000 in the general population); early orchidopexy facilitates monthly clinical monitoring of the testis in scrotal position and may reduce the risk of malignant transformation by improving the thermal environment
- Testicular torsion: the non-fixed cryptorchid testicle is more mobile and more exposed to the risk of torsion - surgical emergency; higher risk at puberty (increased testicular volume)
- Trauma: the inguinal testicle is exposed to direct trauma during sporting activities, without the anatomical protection of the scrotum.
- Psychological impact: hypoplastic or asymmetric scrotum can be a source of psychosocial difficulties in adolescence and adulthood; early surgical correction limits this impact
ℹ️
The optimal time for orchidopexy is between 6 and 18 months of age - a window during which preservation of spermatogenic capital is maximized and pediatric anesthetic risks are acceptable. Any cryptorchidism that does not resolve spontaneously before 6 months of age should be referred to a pediatric surgeon or pediatric urologist without delay to plan surgery within this optimal therapeutic window. Treatment after 2 years is associated with a significantly greater reduction in long-term fertility.
Diagnosis
- Systematic neonatal clinical examination: palpation of the scrotum and inguinal ducts at birth - confirmation of the presence of both testicles in scrotal position; if a testicle is absent from the scrotum, determine whether it is palpable (inguinal, scroto-inguinal) or impalpable; to be distinguished from a retractile testicle (put back in place in the scrotum by gentle traction and maintained there without tension); examination to be repeated at 3 and 6 months to confirm spontaneous descent
- Clinical examination in supine frog-leg position (relaxation of cremasteric reflex) and squatting position: reduction of cremasteric hyperactivity - facilitates distinction between retractile testicle and cryptorchid; bimanual examination with left hand sweeping from iliac fossa to scrotum to mobilize inguinal testicle.
- Inguinoscrotal ultrasound: locates palpable or semi-palpable inguinal testicles; not very useful for abdominal testicles (poor sensitivity - 45 % only for intra-abdominal testicles); not recommended for modifying the surgical decision if the testicle is impalpable - diagnostic laparoscopy remains the reference examination in this case.
- Diagnostic laparoscopy (impalpable testicle): gold standard for locating an abdominal testicle, documenting anorchidism (absence of testicle - vascular nubbins without testicular tissue) or identifying a high intra-abdominal testicle; performed under general anaesthetic at the same time as corrective surgery if the testicle is found.
- Hormonal workup (bilateral cryptorchidism): basal FSH, LH, testosterone and inhibin B assays + hCG stimulation test (testosterone increase > 2 ng/mL = functional testicular tissue present); AMH (anti-mullerian hormone) assay - marker of Sertoli cell function; useful for distinguishing bilateral anorchidism (high gonadotropins, low non-stimulable testosterone) from bilateral cryptorchidism with functional tissue present
- Sex Differentiation Test (SDT): mandatory in cases of bilateral cryptorchidism + hypospadias - eliminates congenital adrenal hyperplasia (virilized infant 46,XX), complete or partial androgen insensitivity (46,XY) or Klinefelter syndrome (47,XXY); karyotype, complete hormonal workup, pelvic imaging.
Treatment
- Monitoring and waiting for spontaneous descent: recommended up to 6 months of life in full-term infants (70-80 % of spontaneous descent in the first months); beyond 6 months, spontaneous descent becomes very unlikely and surgical referral is indicated without waiting any longer; no hormonal treatment is routinely recommended to induce spontaneous descent due to an insufficient success rate and side effects (advancing bone age, aggressive behavior)
- Surgical orchidopexy (reference treatment): lowering and fixation of the testicle in the scrotum - ideally performed between 6 and 18 months of age; standard technique for palpable inguinal testicle: low inguinal incision + dissection of the spermatic cord + section of the gubernaculum + creation of a subdartos pocket in the scrotum + fixation of the testicle by suture; laparoscopic technique for intra-abdominal testicles; two-stage Fowler-Stephens orchidopexy for high abdominal testes (spermatic vessels cut in the first stage to develop neovascularization by the deferential artery, then lowered 6 months later); simultaneous cure of associated inguinal hernia (permeable vaginal process)
- Orchiectomy (removal of the testicle): indicated in cases of atrophic testicle discovered in adolescents or adults, or in cases of non-viable testicular tissue found during laparoscopy; in post-pubertal adolescents with long-neglected unilateral cryptorchidism and healthy contralateral testicle: orchiectomy preferred to orchidopexy due to residual risk of malignant transformation and lack of benefit on fertility at this stage.
- Testicular prosthesis: silicone testicular implant placed in the scrotum at the time of orchiectomy or at a later date - optional, to be discussed with the family according to age and preferences; objective: cosmetic aspect and preservation of body image in adolescence
- Long-term post-orchidopexy monitoring: monthly testicular self-examination taught in adolescence - the residual risk of testicular cancer justifies active lifelong monitoring; annual urological consultation from puberty onwards; fertility assessment (spermogram) in adulthood, particularly in the case of treated bilateral cryptorchidism
Signs requiring urgent consultation or intervention
Any acute inguinal or lower abdominal pain in a boy with known cryptorchidism should raise the suspicion of testicular torsion - an absolute surgical emergency requiring detorsion within 6 hours to preserve the testicle. The non-fixed cryptorchid testicle is particularly prone to this complication. Call 911 or go immediately to the pediatric emergency room in case of severe acute inguinal pain in a boy with an empty scrotum or known undescended testicle.
For medical advice on a non-palpable testicle in the scrotum of an infant or child, or for referral to a pediatric surgeon or pediatric urologist, Clinique Omicron offers consultations in our Quebec branches and via telemedicine. To book an appointment, visit cliniqueomicron.ca.
Consult at Clinique Omicron
Clinique Omicron's physicians evaluate infants and children with an empty scrotum or suspected cryptorchidism, confirm the diagnosis, prescribe further work-up if indicated and refer without delay to partner pediatric surgeons and pediatric urologists to plan orchidopexy within the optimal therapeutic window. Consultations are available in our Quebec branches, as well as via telemedicine throughout the province. To book an appointment, visit cliniqueomicron.ca.
The content of this page is provided for informational purposes only and does not replace the advice of a qualified healthcare professional. Cryptorchidism requires pediatric medical evaluation and early surgical referral to optimize long-term prognosis for fertility and oncologic surveillance.
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