The most common anomalies are
Rare anomalies include scrotal agenesis, hypoplasia, ectopia, or hemangioma; penoscrotal transposition; and bifid scrotum.
A congenital hydrocele is a collection of fluid in the scrotum between layers of the tunica vaginalis. It may be isolated or may communicate with the abdominal cavity through a patent processus vaginalis (a potential hernia space). Hydrocele manifests as a painless, enlarged scrotum. The condition may resolve spontaneously but usually requires repair if it persists after 6 to 9 mo or if it enlarges.
Cryptorchidism is failure of one or both testes to descend into the scrotum; it is typically accompanied by inguinal hernia. Diagnosis is by examination, sometimes followed by laparoscopy or a human chorionic gonadotropin stimulation test. Treatment is surgical orchiopexy.
Cryptorchidism affects about 3% of term infants and up to 30% of preterm infants; two thirds of undescended testes spontaneously descend within the first 4 mo of life. Thus, about 0.8% of male infants require treatment.
Normally, the testes develop at 7 to 8 wk gestation and remain cephalad to the internal inguinal ring until about 28 wk, when they begin their descent into the scrotum guided by condensed mesenchyme (the gubernaculum). Onset of descent is mediated by hormonal (eg, androgens, mullerian-inhibiting factor), physical (eg, gubernacular regression, intra-abdominal pressure), and environmental (eg, maternal exposure to estrogenic or antiandrogenic substances) factors.
A true undescended testis remains in the inguinal canal along the path of descent or is less commonly present in the abdominal cavity or retroperitoneum. An ectopic testis is one that descends normally through the external ring but diverts to an abnormal location and lies outside the normal course of descent (eg, suprapubically, in the superficial inguinal pouch, within the perineum, or along the inner aspect of the thigh).
Undescended testes may cause subfertility and are associated with testicular carcinoma, mainly in the undescended testis and particularly with intra-abdominal malposition. However, in patients with one undescended testis, 10% of cancers develop on the normal side. In untreated cases of intra-abdominal testes, testicular torsion may occur, manifesting as an acute abdomen. Almost all neonates who present with an undescended testis at birth also have an inguinal hernia (patent processus).
Undescended testes are almost always idiopathic. About 10% of cases are bilateral; suspicion should be high for female virilization caused by congenital adrenal hyperplasia in phenotypic boys with bilateral, nonpalpable, undescended testes at birth (especially if associated with hypospadias).
Symptoms and Signs
In about 80% of cases, the scrotum is empty at birth; in the remainder of cases, a testis is palpable in the scrotum at birth but appears to ascend with linear growth because of an ectopic gubernacular attachment that restrains it from following the normal “descent” of the scrotum. Inguinal hernia rarely causes a palpable mass lesion, but the patent process is often detectable, especially in infants (but less commonly in those with ectopic undescended testes).
Undescended and ectopic testes must be distinguished from hypermobile (retractile) testes, which are present in the scrotum but easily retract into the inguinal canal. Diagnosis is by physical examination; a warm environment, warm examiner's hands, and a relaxed patient are important to avoid stimulating testicular retraction.
In patients with a unilateral nonpalpable testis, a descended testis that is larger than expected suggests an atrophic undescended testis; confirmation requires abdominal laparoscopy.
For bilateral nonpalpable testes, an hCG stimulation test is done. Patients receive injections of hCG 2000 IU IM once/day for 3 to 4 days; blood levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) are obtained before and testosterone levels within 24 h of the final injection. Patients with bilateral cryptorchidism should respond by producing testosterone, whereas those without testes (including genotypic females) produce none. In addition, basal levels of FSH and possibly LH are elevated.
For a palpable undescended testis, treatment is surgical orchiopexy, in which the testis is brought into the scrotum and sutured into place; the associated inguinal hernia also is repaired. For nonpalpable undescended testis, abdominal laparoscopy is done; if the testis is located, it is surgically fixed in place, or if it is atrophic, the tissue is removed. Surgery should be done at about 6 mo of age because early intervention improves fertility potential and may reduce cancer risk. Also, the shorter the child, the shorter the distance necessary to place the testis into the scrotum. Atrophic undescended testes are likely the result of prenatal testicular torsion.
hCG 250 to 1000 IU IM 2 or 3 times/wk for up to 6 wk may stimulate local testosterone production and precipitate testicular descent, either complete or enough to make the testis palpable, increase its blood supply, or both, making surgery easier.
No intervention is needed for a retractile testis as long as the spermatic cord length is sufficient to allow the testis to rest in a dependent scrotal position without traction when the cremasteric reflex is not stimulated. Hypermobility usually resolves without treatment by puberty when increased testicular size makes retraction more difficult.
Last full review/revision January 2010 by Ronald Rabinowitz, MD