Hypospadias, cryptorchidism and common male genital disorders: SAQ

This infant has a distal, subcoronal hypospadias with a hooded prepuce and mild chordee, together with a left non-palpable testis. The combination of a hypospadiac meatus and an impalpable testis raises the concern of a disorder of sex development, and the immediate and non-negotiable response to the circumcision request is to refuse it, because the hooded dorsal prepuce is the tissue that the surgeon will use to reconstruct the urethra. [12] [9]

Question 1 (10 marks)

Classify the hypospadias, explain why the circumcision must not be performed, and outline the surgical management and its timing for this infant. [9]

Hypospadias is classified by the position of the ectopic urethral meatus. The distal or anterior forms, with the meatus on the glans, the coronal sulcus, or the subcoronal shaft, account for 50 to 70 percent of cases; the middle or mid-shaft forms for around 20 to 30 percent; and the proximal or posterior forms, with a penoscrotal, scrotal, or perineal meatus, for the remainder. [9] This infant has a subcoronal meatus, which is a distal hypospadias, and the mild downward curvature is the chordee that often accompanies even the distal forms. The associated hooded prepuce, deficient on its ventral aspect, is the hallmark of the condition. [9]

The circumcision must not be performed because the prepuce forms by the meeting of folds from the dorsal and lateral glans, and when the ventral urethra is absent the ventral prepuce cannot form, leaving a hooded dorsal foreskin that is precisely the spare tissue the surgeon tubularises to rebuild the missing urethra. [12] Removing it at birth forfeits that tissue and converts a straightforward single-stage repair into a difficult reconstruction that may need a free graft. The family is counselled that the foreskin is needed for the repair and that the circumcision cannot be done, in a manner that is respectful of their cultural expectations. [12]

The surgical management is a single-stage tubularised incised plate urethroplasty performed between 6 and 18 months of age. [9] The urethral plate is incised longitudinally to widen it, tubularised around a catheter to form the new urethra, and covered with a vascularised flap of the inner prepuce to prevent fistula formation. The window of 6 to 18 months balances the anaesthetic safety of the older infant against the psychological impact of surgery on the older child, and the family is referred to paediatric urology for the planned repair. [9]

Question 2 (10 marks)

Outline the further evaluation and management of the left non-palpable testis, and explain why the coexistence of the hypospadias and the impalpable testis changes the approach. [1]

The left non-palpable testis is, by definition, a non-palpable undescended testis, and the immediate implication of finding it together with a hypospadias is that the infant must be evaluated for a disorder of sex development. The coexistence of a hypospadiac meatus and an impalpable testis raises the probability of an underlying chromosomal or endocrine abnormality, and the workup is initiated promptly. [2] The evaluation includes a karyotype to determine the chromosomal sex, a pelvic and inguinal ultrasound to seek Müllerian structures and gonads, and the measurement of serum electrolytes, 17-hydroxyprogesterone, testosterone, luteinising hormone, follicle-stimulating hormone, and anti-Müllerian hormone, with particular attention to the 17-hydroxyprogesterone and the electrolytes to exclude congenital adrenal hyperplasia. [9]

The localisation of the non-palpable testis is by examination under anaesthesia, and if the testis is still not felt, by diagnostic laparoscopy, because ultrasound does not reliably locate an intra-abdominal testis. [1] Laparoscopy distinguishes an intra-abdominal testis, which can be brought down in a single stage if the cord length is adequate or by a staged Fowler-Stephens procedure if it is high, from a vanishing testis with a blind-ending spermatic vessel stump. [2]

The timing of the orchidopexy is governed by the principle that a testis still undescended at six months of corrected age will not descend spontaneously, and the American Urological Association and the European Association of Urology and European Society for Paediatric Urology guidelines both recommend orchidopexy between 6 and 18 months of age. [1] [2] The rationale is 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 under the influence of the higher non-scrotal temperature, so bringing the testis into the cooler scrotum by 18 months preserves that germ-cell population. [4] [3]