creation date: 2026-01-19 17:40
tags: Pathologies
Cryptorchidism
Background
Definitions
Cryptorchidism refers to a congenital abnormality in which 1 or both testicle(s) are absent from the scrotum.
Undescended testes: testes stop short along normal path of descent (orsdered by frequency: just outside the external ring, inguinal canal, suprascrotal, abdominal cavity)
Absent testis: agenesis or atrophy due to intrauterine vascular compromise
Retractile testes: normally descended testes that can be pulled into a suprascrotal position by cremasteric reflex; can be kept descended by fatiguing cremaster muscle
Ascending testes: testes was in scrotal position in early childhood but become undescended at some point prior to puberty
Ectopic testes: diversion of testes during normal descent to an aberrant position (ordered by frequency: superficial inguinal pouch, suprapubic, femoral canal, perineum)
Etiology and Risk Factors
Cryptorchidism occurs in 3% of full-term and 30% of premature male infants. In 80% of cases, cryptorchid testes descend within the first 3 months after birth.
Normal testicular descent requires coordination of hypothalamic-pituitary-gonadal axis signals. This occurs during the 28th week of gestation.
In premature infants, birth may have occurred before the testes physiologically descended.
In term infants, the cause is often indeterminate but is associated with a number of risk factors:
- Birth weight (primary)
- Family history
- Alcohol use or smoking during pregnancy
- Congenital malformation syndromes
- Exposures to certain chemicals (eg. endocrine disruptors), pesticides
- Ibuprofen use
- Maternal diabetes, obesity, Mullerian duct syndrome, preeclampsia
Cryptorchidism is usually an isolated finding but may occur in association with the following (especially if cryptorchidism is bilateral):
- Abdominal wall defects
- Neural tube defects
- Cerebral palsy
- Differences of sex development
- Genetic disorders resulting in diminished testosterone secretion
- Genetic disorders associated with primary hypogonadism and increased gonadotropin levels
- Other genetic disorders (eg. trisomy 18, trisomy 13)
Pathophysiology
The abdominal cavity or inguinal canal is a suboptimal environment for normal testicular function as it is not as cool as the scrotum.
Elevated temperatures can adversely impact sperm development and fertility. Additionally, hormone deficiencies may occur due to disruption in testes communication to endocrine system.
Clinical Presentation
Signs & Symptoms
Undescended testes present as an empty and hypoplastic or poorly rugated scrotum or hemiscrotum.
There may be inguinal fullness, hydrocele, or hernia sac present.
History & Physical Exam
History should assess:
- If testes were previously descended at any point
- Previous inguinal surgery
- Evidence of endocrine abnormalities during pregnancy (eg. maternal androgen exposure)
- Family history of unexplained neonatal deaths or genetic anomalies, abnormal pubertal development, or infertility (may suggest associated genetic or endocrinologic abnormality)
Objective exam should include:
- General inspection for endocrine, genetic, or metabolic disorders
- Testicular examination
- Attempt to descend testes manually
Examination of the genitalia should also be performed for signs of androgen disorders and inguinal hernias.
Diagnosis
Criteria
Work-up
Diagnostic approach should distinguish between true undescended testes, retractile testes, and ectopic testes. This is through physical exam (see differential) but ultrasonography may be warranted if the patient is overweight.
Differential
If both testes are palpable and testis is in the inguinal or suprascrotal area:
- True undescended testis
- Retractile testis
- Ectopic testis in the superficial inguinal pouch
If both testes are palpable and testis is in an aberrant position:
- Ectopic testis
If one testis is not palpable:
- True undescended testis
- Absent testis
- Ectopic testis
- Mixed gonadal dysgenesis (if hypospadias associated)
If neither testis is palpable:
- Absent testes
- True undescended testes
- Simple virilizing CAH
If neither testis is palpable and the child is a newborn infant:
- Severely virilized female with CAH
- Difference of sex development
- True undescended testes
- Absent testes
Red Flags / Complications
Complications include:
- Inguinal hernia
- Testicular torsion
- Testicular trauma
- Subfertility
- Testicular cancer
Management
Expectant Management
Most undescended testes descend within the first 3-4 months of life. Beyond 4 months, spontaneous descension is unlikely and expectant management is no longer reasonable.
Surgical
The following are indication for referral:
- Bilaterally nonpalpable testes, unilaterally nonpalpable testis with hypospadias, suspected difference of sex development
- Bilateral nonpalpable testes beyond infancy
- Congenital unilateral nonpalpable testis
- Congenital palpable undescended testis in infants past 4 months
- Ascending testis beyond infancy
- Palpable tissue in scrotum that is suspected to be atrophic testis
- Difficulty differentiating between undescended, retractile, or ectopic testis at any age