Definition Risk Factors - Strong
- FHx cryptorchidism
- Prematurity
- Low birth weight (<2.5 kg) and/or small for gestational age
- Weak
- Environmental exposures
- Maternal alcohol use
- Gestational diabetes
- Prior inguinal surgery
Differential diagnosis Epidemiology - The prevalence of cryptorchidism in newborn term infants is 2% to 9% worldwide. [2]
- This decreases to 1% to 2% after the first few months of life
- Congenital cryptorchidism may spontaneously resolve with the neonatal peak of testosterone by 3 months. [3]
- There is controversy regarding reports of increasing incidence
- Potentially due to endocrine disruption/environmental exposures
- Two thirds of cases are unilateral, while the remainder are bilateral
Aetiology - Hormonal
- Testosterone, mullerian inhibiting substance, insulin-like 3 hormone or its receptor LGR8, epidermal growth factor and/or oestrogens. [8]
- Environmental or maternal toxins
- Organochlorines, environmental oestrogens, phthalate esters, smoking and pesticides
- Maternal alcohol consumption. [3] [7] [9]
- Genetic
- Up to 23% of cases have been associated with familial clustering
- Mutations in insulin-like factor 3 and its receptor, LGR8, have been demonstrated in a small number of cases
- Mechanical
- Problems with development of the gubernaculum
- Patent processus vaginalis
- Impaired intra-abdominal pressure
- Neuromuscular
- Abnormalities of the genitofemoral nerve's calcitonin gene-related peptide or the cremasteric nucleus
Clinical features - Common
- Presence of risk factors
- Malpositioned or absent testis
- Palpable cryptorchid testis
- Non-palpable testis
- Testicular asymmetry
- Scrotal hypoplasia or asymmetry
- Retractile testis
- Uncommon
- Ascending cryptorchidism
- Hypospadias
- Micropenis
- Secondary sex characteristics/pubertal signs in prepubertal/pubertal patients
- Surgical scar in the inguinal region
Pathophysiology - Incomplete migration of the testis during embryogenesis
- This occurs in both androgen-dependent and androgen-independent phases. [14]
- Less commonly, the underlying aetiology is either absent testis or severely atrophic testis (nubbin)
- Usually thought to be secondary to malformation or the result of testicular torsion.
Investigations- Ultrasound
- Testis can be identified, either within the inguinal canal or as it emerges into the superficial inguinal pouch
- MRI
- Testis is identified along its normal path of descent
- Hormonal evaluation
- With hCG stimulation test no increase in testosterone after hCG, in conjunction with elevated basal rates of gonadotropins LH and FSH, signifies that the testes are absent
Management- Retractile testicle(s)
- Annual follow-up examination
- Undescended testicle(s): prepubertal
- No hypospadias: both testicles palpable
- No hypospadias: one testicle palpable
- Examination under anaesthesia + orchiopexy
- Surgical exploration
- No hypospadias: no testicle palpable
- Eith hypospadias
- Endocrinology and/or genetic + urology referral
- Undescended testicle: postpubertal
- Orchiopexy ± biopsy
- ? Orchiectomy
Prognosis- Patient outcomes depend on multiple factors
- Unilateral versus bilateral cryptorchidism
- Llocation of cryptorchid testis
- Age at surgical correction
- Successful surgical correction has been reported as 92% to 95% for testes located beyond the external inguinal ring
- Failure rates increase for testes in higher locations
- Rates of testicular cancer may be somewhat higher compared to the general population
- Rates of malignancy are increased nearly 6 times in patients who undergo late surgical correction or do not undergo correction of cryptorchidism compared to patients who undergo early orchiopexy. [28] [41]
- Chance of later neoplasia:
- Unilateral undescended testicle 1 in 120
- Bilateral undescended testicles 1 in 44
- The higher the testis is in the abdomen, the higher the risk appears. [28] [41]
- Increasingly, cryptorchid patients who are infertile are using assisted reproduction and testis sperm retrieval
- Often sperm can be retrieved in adult men with azoospermia with repaired uni- or bilaterally undescended testes. [42]
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