Definition. Cryptorchidism, or undescended testis, is the positioning of one or both testes outside the scrotum.
Clinical presentation. Boys present with an empty scrotum, and testes may be nonpalpable or palpable in the prescrotal region, perineum (considered ectopic), or the inguinal region (near the external ring, in the superficial inguinal pouch or within the inguinal canal). The ipsilateral scrotum may be hypoplastic, and a hernia or hydrocele may also be present. Cryptorchidism may be associated with other anomalies such as disorders of sexual development (DSD), especially in presence of hypospadias, Prune-belly syndrome, bladder exstrophy, pituitary disorders, and multiple other syndromes.
Diagnosis. Careful examination in a warm room is required, although testes are rarely retractile in the neonatal period. Note should be made of a palpable hernia.
Palpable testes. Extrascrotal testes must be distinguished from other inguinal swellings such as a hernia, hydrocele, or portion of epididymis.
Nonpalpable testes. If a testis is nonpalpable, imaging studies are rarely indicated initially, although ultrasound (US) may identify a small inguinal testis or a clinical hernia. If both testes are nonpalpable, a karyotype should be performed to rule out congenital adrenal hyperplasia, even if penile development is normal.
Management. Observation is indicated until 6 months of age or later to assess for spontaneous descent. Surgery is indicated if a clinical hernia is present or a testis fails to descend. For nonpalpable testes, laparoscopy is indicated to localize the testis or identify the characteristic blind-ending spermatic artery associated with an absent or "vanished" testis. If both testes remain nonpalpable at 2–3 months of age, serum gonadotropins, testosterone, and anti-Müllerian hormone should be obtained to confirm presence of testicular tissue during the spontaneous hormonal surge of infancy.
Definition. Causes of an abnormal testicular examination or scrotal swelling in the newborn period include the following:
Hydrocele. Fluid within the tunica vaginalis and/or along the spermatic cord.
Hernia (inguinal). Protrusion of intra-abdominal content through a patent processus vaginalis along the spermatic cord.
Testicular torsion. Twisting of the spermatic cord with reduction or cessation of testicular blood flow.
Testicular tumor (rare).
Clinical presentation. Scrotal hydroceles are often noncommunicating. Both scrotal and inguinal swelling may indicate a hernia or abdominoscrotal hydrocele. Scrotal discoloration and testicular induration without significant swelling is typical of perinatal testicular torsion. Boys are usually asymptomatic unless an incarcerated hernia is present, which is associated with crankiness and vomiting.
Diagnosis is based on physical examination and scrotal transillumination. Ultrasound can identify patency of the processus vaginalis, identify tumors, and assess for testicular blood flow and calcification in cases of torsion. Yolk sac tumors may occur in infancy; α-fetoprotein (AFP) is normally high until several months after birth and cannot be used as a tumor marker in the newborn period.
Management. Hernias and persistently communicating hydroceles should be repaired when diagnosed and when nonfluctuating hydroceles are observed. Inguinal orchiectomy is indicated for tumors. Perinatal torsion should be explored urgently and contralateral testicular fixation performed (controversial).
Definition. Hypospadias ...
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