Urology treats urinary tract diseases in all genders and male reproductive issues, covering the kidneys, bladder, prostate, urethra, from infections to complex cancers.
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The diagnosis of an undescended testicle is primarily clinical, relying on careful physical examination. However, the diagnostic pathway diverges significantly depending on whether the testis is palpable or non-palpable. A palpable testis can be located in the inguinal canal or in ectopic positions. A non-palpable testis presents a diagnostic dilemma: is it intra-abdominal, or is it absent (vanishing testis/anorchia)?
Diagnostic laparoscopy is the gold standard for evaluating the non-palpable testis. This minimally invasive surgical procedure involves inserting a camera into the abdomen to inspect the internal inguinal ring and the retroperitoneal space visually. It provides definitive anatomical information. If the testis is present, its location and the length of the spermatic vessels can be assessed to plan the repair. If the testis is absent, the surgeon looks for “blind ending” vessels, which confirm that the testis either never formed or atrophied in utero. Laparoscopy is superior to imaging because it allows for immediate therapeutic intervention (orchiopexy or orchiectomy) in the same setting.
When both testes are non-palpable, the condition is a medical emergency requiring immediate evaluation for Disorders of Sex Development (DSD), particularly Congenital Adrenal Hyperplasia (CAH) in a genetic female with virilization. The diagnostic workup involves a karyotype to determine genetic sex and a hormonal profile.
The “hCG stimulation test” assesses the presence of functional testicular tissue. Human Chorionic Gonadotropin is administered to stimulate Leydig cells. A rise in serum testosterone confirms the presence of testes. A lack of response suggests bilateral anorchia (no testes).
Modern diagnostics also utilize peptide markers such as Anti-Müllerian Hormone (AMH) and Inhibin B. These are secreted by Sertoli cells. Detectable levels of AMH and Inhibin B serve as particular biomarkers for the presence of testicular tissue, potentially avoiding the need for stimulation testing or extensive surgical exploration in cases of anorchia.
When both testes are non-palpable, the condition is a medical emergency requiring immediate evaluation for Disorders of Sex Development (DSD), particularly Congenital Adrenal Hyperplasia (CAH) in a genetic female with virilization. The diagnostic workup involves a karyotype to determine genetic sex and a hormonal profile.
The “hCG stimulation test” assesses the presence of functional testicular tissue. Human Chorionic Gonadotropin is administered to stimulate Leydig cells. A rise in serum testosterone confirms the presence of testes. A lack of response suggests bilateral anorchia (no testes).
Modern diagnostics also utilize peptide markers such as Anti-Müllerian Hormone (AMH) and Inhibin B. These are secreted by Sertoli cells. Detectable levels of AMH and Inhibin B serve as particular biomarkers for the presence of testicular tissue, potentially avoiding the need for stimulation testing or extensive surgical exploration in cases of anorchia.
For patients with associated hypospadias or other anomalies, a targeted Next-Generation Sequencing (NGS) panel is used. This screens for mutations in genes involved in gonadal development and androgen signaling. Identifying a genetic cause helps in counseling regarding future fertility and potential health risks for the child and future siblings.
Epigenetic profiling is an emerging research tool. Aberrant DNA methylation patterns in sperm or testicular tissue from men with a history of cryptorchidism are being studied as markers of fertility potential and offspring health. This molecular diagnosis moves beyond anatomy to assess the functional genomic health of the gonad
Diagnostic evaluation also focuses on the contralateral, descended testis. In cases of unilateral cryptorchidism, the “healthy” testis may also exhibit compensatory hypertrophy (growing larger than usual) or subtle dysgenetic features. Ultrasound can measure the volume and echotexture of the descended testis. Significant hypertrophy of the solitary descended testis is a strong clinical predictor that the other testis is absent or atrophic (monorchism), as the body compensates for the missing mass. This “hypertrophy sign” aids the surgeon in surgical planning and patient counseling.
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Ultrasound relies on sound waves, which cannot easily penetrate gas-filled bowel loops or bone. An undescended testicle located high in the abdomen is often hidden behind the intestines or deep in the pelvis, making it invisible to ultrasound. Therefore, a negative ultrasound (saying “no testicle found”) is unreliable, and surgery (laparoscopy) is still needed to look for it directly.
Anorchia, or “vanishing testis syndrome,” is the complete absence of one or both testicles. This usually happens because the testicle formed initially but twisted or lost its blood supply during fetal development and withered away. If both testicles are missing (bilateral anorchia), the child will need lifelong hormone replacement therapy to go through puberty.
When no testicles can be felt on either side, doctors need to know if there is any testicular tissue inside the body before doing surgery. They inject hCG, a hormone that stimulates the testicles to make testosterone. If testosterone levels in the blood rise after the injection, it proves that testicular tissue is present somewhere, and surgery is needed to find and fix it.
A nubbin is the small, scarred remnant of a testicle that died in utero or early infancy, usually due to torsion. It is often found in the scrotum or groin during surgery. Surgeons typically remove nubbins because they serve no function and pose a minimal theoretical risk of harboring unstable cells that could cause problems later.
No, diagnostic laparoscopy in children uses tiny instruments, often just 3 millimeters in diameter (about the size of a spaghetti noodle). The incisions are small, usually hidden in the belly button, and heal with almost invisible scars. It is a minimally invasive procedure with a quick recovery.
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