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Cryptorchidism – Undescended Testicle

• Cryptorchidism: Definition and Causes
• Cryptorchidism: Signs, Symptoms and Diagnostik Workup
• Cryptorchidism: Hormonal Treatment and Surgery

Definitions of Cryptorchidism

Cryptorchidism is the absence of one testis or both testes from the scrotum, caused by a deficient or irregular testicular descent (undescended testis):

Abdominal testis:

An abdominal testis is also called "true cryptorchidism" (greek: hidden testis), the testis is located proximal to the deep inguinal ring.

Inguinal testis:

The undescended testis is palpable between the internal and external inguinal ring, it cannot be displaced into the scrotum (in contrast to the retractile testis). Some inguinal testes may be displaced to the scrotum, but immediately after examination, they slide back into the inguinal position. In contrast to retractile testes, inguinal testes do not descend to a scrotal position with muscular relaxation (e.g., warm bath).

Ectopic testes:

The ectopic testis has a position outside the path of normal descent, e.g., inguinal above the facia, perineal, femoral or peripubic localization.

Retractile testis:

A retractile testis has an inguinal position due to the contraction of the cremaster muscle. With muscular relaxation (e.g., warm bath), the retractile testis descends to a scrotal position. Retractile testes should not be considered as cryptorchidism.

Epidemiology of Cryptorchidism

Prevalence:

• 1% of one-year old boys
• 3% of the boys at birth (normal pregnancy)
• 9–30% in premature infants

Risk factors for cryptorchidism:

• Premature births
• Low birth weight (7% cryptorchidism in children with a birth weight <2000 g)
• Breech presentation
• Other factors: preeclampsia, positive family history

Familiar disease:

The concordance rate is 7% for brothers, 17% for dizygotic twins and 27% for monozygotic twins.

Frequency of Monorchism:

Monorchism (lack of one testis) is the underlying cause for 5–20% of patients with real (non-palpable) cryptorchidism. Most often, the cause for a missing testicle is the vanishing testis syndrome (intrauterine testicular torsion). The absent testis causes compensatory hypertrophy of the contralateral testis, thus a testicular volume greater than 2 ml is indicative of monorchy in children with nonpalpable cryptorchidism (Hodhod et al., 2016).

Etiology (Causes) of Cryptorchidism

The complex mechanisms of testicular descent is susceptible to interference (Hutson and Hasthorpe, 2005):

Mechanisms of Testicular Descent

The testicular descent is controlled by the antimüllerian hormone, insulin-like hormone 3 (Insl3) and by androgenes (DHT and testosterone). The gubernaculum testis, also called genitoinguinal ligament, connects the testis to the inguinal region and is the key structure for the abdominal part of the descent. A swelling reaction of the gubernaculum is caused by above mentioned hormones and leads to an enlargement of the inguinal canal. The testis migrates caudally due to the growth in length of the embryo. As the descent progresses, muscle cells migrate into the gubernaculum. Regression of the gubernaculum and muscle contraction (innervation by the genitofemoral nerve) trigger the inguinal part of the testicular descent.

Lack of Androgens:

An absolute (low concentration) or relative (reduced sensitivity of the target tissue) androgen deficiency leads to cryptorchidism, although the abdominal part of the testicular descent is not impaired. Many reasons for androgen deficiency are known, e.g., 5α-reductase deficiency, mutations of the androgen receptor and many more. Hormone treatment with HCG or GnRH leads to higher testosterone concentrations and is a treatment option in cryptorchidism (see below).

Genetic syndromes:

Many genetic syndromes are associated with cryptorchidism: e.g., Noonan syndrome, WAGR syndrome, Kallmann syndrome, prune-belly syndrome, exstrophy of the bladder, omphalocele or gastroschisis. Gene candidates for heritable nonsyndromatic cryptorchidism are mostly unknown and the genetic etiology is complex.

Estrogens:

Prenatal treatment of the mother with DES (diethylstilbestrol) leads to cryptorchidism.

Decreased abdominal pressure:

Decreased abdominal pressure may be a factor for impaired testicular descent in Prune-belly syndrome, exstrophy, omphalocele or gastroschisis.

Pathophysiology of Cryptorchidism

Male Infertility:

Cryptorchidism is a risk factor for male infertility: 87% of untreated men with unilateral cryptorchidism have children, but only 33% of men with bilateral cryptorchidism.

Impaired germ cell development:

Cryptorchidism results in a testicular damage with impaired germ cell development: persistence of fetal gonocytes and the lack of development of the adult dark spermatogonia (see pathology). Early orchidopexy can prevent the histopathological changes.

Malformations of the epididymis:

An open processus vaginalis is a strong risk factor for epididymal anomalies. The higher the position of the testis in cryptorchidism, the more likely the epididymal malformations such as disturbed fusion of epididymis and testis or even missing epididymal structures. The epididymal malformations are probable caused by the same mechanisms as the cryptorchidism. Epididymal anomalies are the most common reasons for infertility after "successful surgical therapy".

Germ Cell Tumors:

The exact mechanims for the increased risk for testicular cancer (10–20×) is unclear. Testicular dysgenesis is the probable cause, since the contralateral orthotopic testis has the same increased risk of malignancy. The higher the position of the testis, the higher the risk of malignancy. Germ cell tumors develop usually after puberty. A testicular biopsy at the time of orchidopexy cannot judge the risk of tumors.

Orchidopexy and testicular cancer risk:

Orchidopexy before the 10th year of age reduces the incidence of germ cell tumors and enables clinical controls for early detection of testicular tumor. An early orchidopexy enhances the protective effect. Some studies could not demonstrate the protective effect by early orchidopexy.

Testicular Pathology in Cryptorchidism

Typical histopathological signs of testicular damage in untreated cryptorchidism:

• Decreased number of Leydig cells (early signs)
• Degeneration of Sertoli cells
• Persistence of fetal gonocytes and missing development of the adult dark spermatogonia
• Missing development of primary spermatocytes
• Peritubular fibrosis
• Within two years after birth, the complete histopathological picture can be expected.

References

Kolon u.a. 2004 KOLON, T. F. ; PATEL, R. P. ; HUFF, D. S.: Cryptorchidism: diagnosis, treatment, and long-term prognosis.
In: Urol Clin North Am
31 (2004), Nr. 3, S. 469–80, viii-ix

M. Ritzen, A. Bergh, R. Bjerknes, P. Christiansen, D. Cortes, S. E. Haugen, N. Jörgensen, C. Kollin, S. Lindahl, G. Läckgren, K. M. Main, A. Nordenskjöld, E. R.-D. Meyts, O. Söder, S. Taskinen, A. Thorsson, J. Thorup, J. Toppari, und H. Virtanen. Nordic consensus on treatment of undescended testes.
Acta Paediatr, 96 (5): 638–643, May 2007.

A. V. Thorsson, P. Christiansen, und M. Ritzen. Efficacy and safety of hormonal treatment of cryptorchidism: current state of the art.
Acta Paediatr, 96 (5): 628–630, May 2007.

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