Testis and epididymis
General
Cryptorchidism

Author: Christopher P. Dall, B.S., and Debra L. Zynger, M.D. (see Authors page)

Revised: 3 July 2017, last major update June 2017

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Cryptorchidism [title] Testis and epididymis

Cite this page: Cryptorchidism. PathologyOutlines.com website. http://pathologyoutlines.com/topic/testiscryptorchidism.html. Accessed October 20th, 2017.
Definition / general
  • Absence of one or both testes in the scrotum
  • Most common congenital abnormality of the genitourinary tract (Transl Pediatr 2016;5:233)
  • Associated with infertility and subfertility, testicular germ cell tumor, testicular torsion and inguinal hernia
Terminology
  • Cryptorchidism: absence of one or both testes in the scrotum most commonly due to failure of descent into the scrotum during fetal development
    • May occur with gonadal dysgenesis or following testicular ascent later in life
  • Anorchia or vanishing testis syndrome: absence of one or both testes
  • Orchiopexy or orchidopexy: procedure that tethers the testicle into the scrotum
  • Ectopic testis: testis is situated away from normal path of descent, differs from undescended testicle
ICD-10 coding
  • Q53.1: undescended testicle, unilateral
  • Q53.2: undescended testicle, bilateral
  • Q53.9: undescended testicle, unspecified
Epidemiology
Pathophysiology
  • Testicular descent from initial position on abdominal wall is divided into two stages (Endocr Rev 2008;29:560) with abnormalities of migration thought to be associated with undescended testicle
    • Transabdominal descent: the gubernaculum, a caudal ligament connecting the testicle to the internal ring, holds testicle near internal ring as abdominal cavity develops; insulin-like factor 3 (INSL3) and anti-Müllerian hormone dependent
    • Inguinoscrotal descent: the gubernaculum shortens, pulling testicle through inguinal canal to position within scrotum; androgen dependent
  • May be a component of testicular dysgenesis syndrome, which includes increased levels of testicular malignancy, poor semen quality and hypospadias
Etiology
  • Numerous genes implicated in cryptorchidism, lack of a clear association in human studies suggests multifactorial causes
  • More common in preterm (30%) (Transl Pediatr 2016;5:233) and low birth weight infants (J Urol 1999;161:1606)
  • Concordance in sibling studies (Fertil Steril 2010;93:124)
  • Chromosomal abnormalities are associated with cryptorchidism with increased rates in genetic syndromes, such as Klinefelter and Prader-Willi syndrome (Lancet 2004;364:273)
  • Environmental factors likely play a role; diethylstilbestrol and pesticide exposure have been associated with increased rates (Mol Cell Endocrinol 2012;355:208)
Clinical features
  • 80% of undescended testicles palpated within inguinal canal or high scrotal area
  • 20% of undescended testicles not palpated
  • Associated with increased risk of testicular germ cell tumor
    • Increasing risk of malignancy with delayed treatment (J Urol 2009;181:452)
    • Relative risk of malignancy is 2 - 8; higher risks associated with delayed repair, bilateral cryptorchidism, additional endocrinopathies, abnormal karyotype and intra-abdominal testes
    • Seminoma is most common malignancy
Diagnosis
Laboratory
  • In cases of bilateral undescended testicles, hormonal studies (LH, FSH, Mullerian inhibiting substance/MIS and testosterone) may support diagnosis of gonadal dysgenesis with abnormal hCG stimulation test (Am Fam Physician 2000;62:2037)
Radiology description
Prognostic factors
  • Delayed repair reduces fertility, which is worse with bilateral cryptorchidism
  • Relative risk for testicular germ cell tumor is 2.2 with prepubertal repair vs 5.4 with postpubertal repair (N Engl J Med 2007;356:1835)
Case reports
Treatment
Clinical images

Images hosted on other servers:

Intra-abdominal mass

Abdominal testis

Mass with right gonadal vein

Scrotum with cryptorchidism

Gross description
  • Smaller and atrophic compared to descended testis
Gross images

Images hosted on PathOut server:

Images contributed by Debra L. Zynger, M.D. :

Cryptorchid testicle gross image



Images hosted on other servers:

Atrophic testis

Microscopic (histologic) description
Microscopic (histologic) images

Images hosted on PathOut server:

Images contributed by Debra L. Zynger, M.D.:

Seminiferous tubule with Sertoli cells, no spermatogenesis; left: medium power; right: high power

Peritubular fibrosis

Sertoli cell nodule


Retained Leydig cells

Granular cell change within Sertoli cells

Microliths

Cytology description
  • Used to evaluate metastases of subsequent germ cell tumor, not primary tumor or cryptorchid testis
Positive stains
Differential diagnosis
Board review question #1
A 24 year old man with a history of untreated cryptorchidism presents with a painful abdominal mass. Pathology is most likely to be consistent with which of the following:

  1. Dermoid cyst
  2. Germ cell neoplasia in situ
  3. Mixed germ cell tumor
  4. Seminoma
  5. Sertoli cell tumor
Board review answer #1
D. Seminoma is the most common malignancy.
Board review question #2
What histological changes are most likely to be observed in a cryptorchid testis?

  1. Atrophic seminiferous tubules, peritubular fibrosis, and nodules of cells containing dark nucleoli and eosinophilic granular cytoplasm
  2. Bland appearing cysts lined with cuboidal epithelium and ciliated cells
  3. Calcified lesions adjacent to areas of necrosis
  4. Glycogen rich cells with large, irregular nuclei arranged in sheets
  5. Rod-like cytoplasmic inclusions with a diffuse growth pattern and rare mitotic cells
Board review answer #2
A. These findings are consistent with an undescended testicle

  1. These might be the findings associated with benign glands, such as those seen in endometriosis or endosalpingiosis
  2. This histology may be associated with teratoma
  3. These might be the findings of a seminoma, which are more common in undescended testicles
  4. Leydig cell tumors often contain Reinke crystals, described in this answer choice