Undescended Testis (Cryptorchidism)

Also written as Cryptorchidism, Undescended testis.

Undescended testis is a common congenital condition where the testis fails to descend into the scrotum. Early recognition and timely orchiopexy reduce infertility and cancer risk, especially in low‑resource settings.

Definition and diagnosis

A testis that is not palpable within the scrotal sac by 6 months of age (or by 12 months if born preterm) is classified as undescended. Diagnosis is clinical, based on palpation of the inguinal canal, abdomen, or thigh.

• Palpable testis in inguinal canal = true cryptorchidism
• Non‑palpable testis = may be intra‑abdominal or absent

Severity and staging

Staging follows the location of the gonad:

• Canalicular (inguinal) – most common, easier to access surgically
• Abdominal – higher malignancy risk, may need laparoscopy
• Ectopic (e.g., femoral, perineal) – rare, requires specific approach

Causes, most likely first

Most cases are idiopathic, but several factors increase risk, especially in tropical, low‑resource settings.

• Prematurity – incomplete hormonal descent
• Hormonal disruption – maternal exposure to endocrine‑disrupting agents
• Genetic syndromes – e.g., Klinefelter, Prader‑Willi
• Intra‑uterine infections – HIV, malaria, syphilis
• Local factors – inguinal hernia, hydrocele, testicular torsion in utero

How it presents

Usually discovered incidentally during newborn or infant examination; the scrotum appears empty or asymmetrical.

• Unilateral empty scrotum with normal contralateral testis
• Absent palpable mass in the scrotum
• May be associated with inguinal hernia or hydrocele

Investigations

Investigation is guided by the ability to locate the testis and by resource availability.

• Physical examination (palpation): Confirms presence and location; if testis is palpable, surgery can be planned without imaging
• Ultrasound (if available): Answers whether a non‑palpable testis is intra‑abdominal; a normal scan suggests agenesis, prompting hormonal work‑up
• Hormonal assay (FSH, LH, testosterone) – optional: Helps when testis is absent; high FSH/LH with low testosterone indicates primary gonadal failure
• Laparoscopy (when imaging unavailable and testis not palpable): Both diagnostic and therapeutic; locates intra‑abdominal testis and allows immediate orchiopexy

Red flags and complications

Complications develop over years but some require urgent attention.

• Inguinal hernia causing obstruction
• Testicular torsion of an undescended testis
• Rapid increase in abdominal mass – suspect tumor

Management

Goal: bring the testis into the scrotum before 12‑18 months to preserve fertility and lower cancer risk.

• Orchiopexy – standard open inguinal approach for canalicular testes; laparoscopic orchiopexy for abdominal testes
• Hormonal therapy (hCG or GnRH) – rarely used, limited success, avoided where surgical capacity exists
• Treat associated hernia with herniotomy at the same operation

Follow-up and prevention

Long‑term surveillance focuses on testicular growth, puberty, and malignancy screening.

• Annual scrotal exam after puberty; ultrasound if mass detected
• Educate families about self‑examination from age 15
• Counsel on fertility; consider sperm analysis in adulthood if bilateral

Often confused with

Conditions that mimic an empty scrotum or palpable mass.

• Retractile testis – can be brought down manually, normal descent
• Ectopic testis – located outside the normal path (e.g., perineal)
• Anorchia – complete absence of testicular tissue

Where results can mislead

Pitfalls in assessment that may give false reassurance.

• Ultrasound may miss a small intra‑abdominal testis, leading to false‑negative imaging
• Hormone levels can be normal in early infancy despite absent testis

Questions an examiner may ask

• A 9‑month‑old boy has a unilateral non‑palpable testis. What is the next step? — Perform a careful inguinal examination; if still non‑palpable, arrange ultrasound or refer for diagnostic laparoscopy.
• How does a retractile testis differ from cryptorchidism on exam? — Retractile testis can be brought down into the scrotum and stays there with gentle traction; cryptorchid testis cannot be fully descended.
• Which complication of an undescended testis is most likely to present in the first year of life? — Inguinal hernia causing obstruction or incarceration.
• Why is hormonal therapy (hCG) rarely recommended in low‑resource settings? — Limited efficacy, need for repeated injections, and risk of side‑effects; surgical orchiopexy is more reliable and cost‑effective.
• A 2‑year‑old with an abdominal testis is scheduled for surgery. What additional procedure should be performed? — Herniotomy if an associated inguinal hernia is present.
• What long‑term surveillance is required after successful orchiopexy? — Annual scrotal examination after puberty, patient education on self‑exam, and ultrasound if any mass is felt.
• Explain why testicular cancer risk remains elevated even after orchiopexy. — Pre‑malignant intratubular germ cell neoplasia may have already developed before surgery; orchiopexy reduces but does not eliminate risk.
• In a setting without ultrasound, how would you locate a non‑palpable testis? — Proceed to diagnostic laparoscopy, which both confirms location and allows immediate orchiopexy.

When to seek help

• Acute inguinal pain with vomiting – possible torsion or strangulated hernia
• Rapidly enlarging abdominal mass – suspect tumor
• Signs of intestinal obstruction (distension, inability to pass stool)

Quick questions

Why is early orchiopexy important?

It preserves spermatogenesis and reduces the risk of testicular cancer from about 3‑5 % to near baseline.

Can a non‑palpable testis be left untreated?

No; it carries higher malignancy risk and may be absent, requiring hormonal evaluation.

Is hormonal therapy a substitute for surgery?

No; success rates are low and surgery remains the definitive treatment.