Cryptorchidism

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management

Definition

Cryptorchidism refers to the failure of one or both testes to descend into the scrotum by birth. It is the most common congenital abnormality of the male genitalia.

Aetiology

Cryptorchidism can be classified as congenital or acquired.

Congenital Causes:

  • Idiopathic: most common cause.
  • Hormonal imbalance: insufficient testosterone or gonadotropins affecting testicular descent.
  • Genetic syndromes: associated with conditions like Klinefelter syndrome.
  • Intrauterine growth restriction (IUGR): testicular development may be impaired.

Acquired Causes:

  • Retractile testes: hyperactive cremasteric reflex causes intermittent ascent.
  • Testicular ascent: previously descended testes can move back into the inguinal canal.

Pathophysiology

  • Testicular descent occurs in two phases:
    • Transabdominal phase (8–15 weeks gestation): governed by Insulin-like 3 (INSL3) hormone.
    • Inguinoscrotal phase (25–35 weeks gestation): mediated by testosterone.
  • Failure in these phases results in an undescended testis.
  • Persistent undescended testes are at increased risk of infertility and malignancy.

Risk Factors

  • Prematurity (testicular descent is completed in late gestation).
  • Low birth weight.
  • Family history of cryptorchidism.
  • Genetic disorders (e.g., Down syndrome, Klinefelter syndrome).
  • Maternal smoking or alcohol use during pregnancy.
  • Exposure to endocrine-disrupting chemicals in utero.

Signs and Symptoms

  • Absent testis in the scrotum: empty or hypoplastic scrotum.
  • Palpable testis in the inguinal canal: indicates incomplete descent.
  • Asymmetry of the scrotum: one side appears smaller.
  • Retractile testis: moves between the inguinal canal and scrotum but can be manipulated into place.

Investigations

  • Clinical examination: attempt to palpate the testis along the inguinal canal.
  • Ultrasound scan: used in cases of non-palpable testes but has limited sensitivity.
  • MRI or Laparoscopy: considered if testes are not found on examination or ultrasound.
  • Hormonal testing: if bilateral cryptorchidism is present, serum LH, FSH, and testosterone levels can assess gonadal function.

Management

1. Watchful Waiting:

  • Spontaneous descent can occur within the first 6 months of life.
  • If undescended by 6 months, intervention is needed to reduce complications.

2. Surgical Management:

  • Orchiopexy: first line treatment; surgical repositioning of the testis into the scrotum.
  • Recommended between 6–12 months of age to optimise fertility and reduce malignancy risk.
  • Laparoscopic orchiopexy: used for intra-abdominal testes.

3. Hormonal Therapy (Limited Use):

  • hCG or GnRH analogues may be considered but are less effective than surgery.

4. Complication Management:

  • Infertility: risk is higher in bilateral cases; early orchiopexy improves outcomes.
  • Testicular cancer: risk remains increased, necessitating lifelong testicular self-examination.
  • Testicular torsion: increased risk in undescended testes.
  • Inguinal hernia: often associated with cryptorchidism due to patent processus vaginalis.

5. Long-Term Follow-Up:

  • Regular testicular examinations during childhood and adolescence.
  • Self examination for testicular cancer in adulthood.
RenalmypanotesCryptorchidism