Reproductive · Pediatric Urology
The facts most likely to be tested
Cryptorchidism is defined as the failure of one or both testes to descend into the scrotal sac by birth.
The most common location for an undescended testis is the inguinal canal.
Spontaneous descent of the testis is most likely to occur within the first 6 months of life.
Orchiopexy is the definitive surgical treatment and is recommended between 6 and 18 months of age to preserve fertility.
Untreated cryptorchidism significantly increases the long-term risk of testicular malignancy, specifically seminoma.
Cryptorchidism is a major risk factor for testicular torsion and inguinal hernia.
Exogenous hormonal therapy (e.g., hCG) is generally not recommended due to low efficacy compared to surgical intervention.
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A 9-month-old male is brought to the clinic for a routine well-child visit. Physical examination reveals an empty right hemiscrotum and a non-palpable right testis. The left testis is palpable and located within the scrotum. The infant was born at 39 weeks gestation without complications. There is no history of trauma or scrotal swelling.
What is the most appropriate next step in the management of this patient?
Referral for orchiopexy
This patient has cryptorchidism that has failed to descend by 6 months of age, necessitating surgical orchiopexy to prevent future infertility and malignancy risk.
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Etiology / Epidemiology
Most common congenital anomaly of the male GU tract; prematurity and low birth weight are primary risk factors.
Clinical Manifestations
Empty, hypoplastic, or poorly rugated scrotal sac; cryptorchidism is the hidden testis.
Diagnosis
Clinical diagnosis; physical exam is the gold standard. Imaging is generally not indicated.
Treatment
Observation until 6 months of age; orchiopexy is the definitive treatment.
Prognosis
Increased risk of testicular cancer and infertility; orchiopexy does not eliminate cancer risk.
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Epidemiology & Etiology
Occurs in 3% of full-term and up to 30% of premature male infants. Major risk factors include low birth weight, prematurity, and maternal smoking. Most cases resolve spontaneously by 3 months of age.
Pertinent Anatomy
The testis fails to descend from the retroperitoneum through the inguinal canal into the scrotum. The most common location for an undescended testis is the suprascrotal or inguinal region.
Pathophysiology
Failure of the gubernaculum to guide the testis into the scrotum leads to arrested descent. Prolonged exposure to higher core body temperatures causes germ cell atrophy and Leydig cell dysfunction. This thermal damage is the primary driver of future infertility and malignant transformation.
Clinical Manifestations
The hallmark is an empty scrotum on palpation. The testis may be palpable in the inguinal canal or non-palpable if intra-abdominal. Red flags include bilateral non-palpable testes, which require immediate evaluation for congenital adrenal hyperplasia or disorders of sex development.
Diagnosis
The diagnosis is established via physical examination in a warm, relaxed environment. If the testis is non-palpable, pelvic ultrasound or MRI may be used, but they have low sensitivity. Laparoscopy is the gold standard for localizing non-palpable testes.
Treatment
Spontaneous descent is rare after 6 months of age. Orchiopexy is the definitive surgical management, ideally performed between 6 and 18 months. Hormonal therapy (hCG or GnRH) is generally ineffective and not recommended as first-line treatment.
Prognosis
Patients face a significantly increased risk of testicular malignancy (seminoma) and infertility. Orchiopexy reduces but does not eliminate the risk of cancer, necessitating lifelong self-examination.
Differential Diagnosis
Retractile testis: hyperactive cremasteric reflex; testis can be milked into the scrotum
Ectopic testis: testis located outside the normal path of descent (e.g., perineal)
Anorchia: congenital absence of the testis
Hydrocele: fluid collection that transilluminates; testis is usually palpable
Inguinal hernia: bowel loops present in the scrotum; often reducible