Hypospadias, cryptorchidism and common male genital disorders: Case

This boy has two findings that together change the management. The left testis, still palpable in the inguinal canal and not in the scrotum at seven months, is a true undescended testis that will not now descend spontaneously and needs orchidopexy within the 6 to 18 month window. The ventral glanular meatus with the hooded prepuce is a distal hypospadias, and its coexistence with the undescended testis raises the question of a disorder of sex development and absolutely forbids circumcision. [9] [1]

Clinical findings

The key findings are the palpable undescended left testis that cannot be milked into the scrotum, which distinguishes it from a retractile testis that would stay down once brought to the bottom of the scrotum, and the distal hypospadias with the hooded prepuce and the slightly ventral meatus. [1] The examination was correctly performed in the warm room in the frog-leg position, which relaxes the cremaster and is the essential precondition for an accurate assessment of testicular position in the infant. [9]

The coexistence of the two findings is the clinically important point. A hypospadiac meatus together with an undescended testis raises the probability of an underlying chromosomal or endocrine abnormality, and although this boy has a unilateral and palpable testis rather than the more worrying bilateral non-palpable presentation, the combination still warrants consideration of a disorder of sex development and discussion with the urology and endocrinology teams. [9]

Investigations and diagnosis

The diagnoses of the distal hypospadias and the palpable undescended testis are both clinical and need no imaging. [1] Ultrasound does not change the management of a palpable testis and is not indicated, because the testis will be operated on regardless of the imaging. Given the coexistence of the two conditions, the team considers a baseline evaluation that includes the karyotype, the 17-hydroxyprogesterone, and the hormone profile to exclude a disorder of sex development, although the unilateral palpable presentation makes a significant underlying abnormality less likely than in the bilateral non-palpable case. [5]

The distal hypospadias is confirmed on the genital examination, with the meatal position documented and the chordee assessed. The most important pre-operative instruction is that the prepuce must not be circumcised, because the hooded dorsal foreskin is the tissue that will be used to reconstruct the urethra. [12]

Management and outcome

The management of the undescended testis is a left orchidopexy performed between 6 and 18 months of age, which this boy is within at seven months. [1] The operation brings the testis out of the inguinal canal, mobilises the spermatic cord to gain sufficient length, and fixes the testis in a subdartos pouch in the scrotum. [3] The timing is governed by the germ-cell evidence of Huff, who showed that the spermatogonia that determine future fertility are progressively lost in the undescended testis from the latter half of the first year of life, so the operation by 18 months brings the testis into the cooler scrotum before that loss becomes irreversible. [4] [3]

The management of the distal hypospadias is a single-stage tubularised incised plate urethroplasty, also performed between 6 and 18 months, in which the urethral plate is incised and tubularised around a catheter and covered with a vascularised flap of the inner prepuce. [9] The two operations may be combined or staged at the discretion of the surgeon. The family is counselled that the distal hypospadias has an excellent prognosis with a low complication rate, and that the unilateral orchidopexy performed within the window has a good prognosis for fertility. [5]

The long-term disposition is lifelong testicular self-examination, because the previously cryptorchid testis carries a two to threefold increased risk of testicular germ-cell cancer that persists even after a successful orchidopexy. [5] The family is taught the technique and is asked to report any new testicular lump, and the boy is transitioned to adult urology in adolescence with this surveillance continuing. The prognosis for the unilateral condition corrected within the window is good, and the counselling balances this reassurance with the clear instruction about the ongoing cancer surveillance. [5]