Congenital Penile Anomalies

Hypospadias

A congenital malformation of the urethral fold and ventral foreskin, in which the urethral meatus opens somewhere other than the tip of the glans. The second most common congenital malformation in males after cryptorchidism, and the most common congenital penile malformation.

Classification (by meatal position):

• Anterior/distal (glandular, subcoronal) — ~50–70% of cases, the most common.
• Middle (distal penile, midshaft, proximal penile).
• Posterior/proximal (penoscrotal, scrotal, perineal).

Often accompanied by chordee — abnormal ventral penile curvature from reduced ventral tissue, usually only visible with erection — which can affect future sexual function and fertility (abnormal ejaculation, difficulty with penetration) if uncorrected.

Associated anomalies: cryptorchidism (8–10% of cases, more with proximal hypospadias) and inguinal hernia (9–15%). Proximal hypospadias with cryptorchidism raises the possibility of a disorder of sex development — consider karyotype and renal/bladder ultrasound. Hypospadias is a feature of over 200 syndromes, including WAGR, Denys-Drash, Smith-Lemli-Opitz, Wolff-Hirschhorn, and CHARGE.

Presentation

Usually detected at birth: a glandular groove, a dorsal hood of foreskin (absent or scant ventrally, giving a “hooded” appearance), and an abnormally sited meatus. In mild distal disease the urinary stream is usually unaffected; more proximal disease can narrow the meatus and deflect the stream downward.

If hypospadias is found at circumcision, stop the procedure and refer — the foreskin is needed as tissue for the surgical repair.

Management

Refer all cases for surgical evaluation in the first weeks of life. Surgery is recommended between 6–18 months of age to limit later psychological and behavioural impact, and chordee is corrected at the same time. Midshaft and distal disease needs no further imaging before referral (same population risk of renal anomalies as the general population); proximal disease with cryptorchidism needs karyotype and renal tract imaging first.

Do not circumcise these boys — the foreskin is used in the surgical repair.

Later repairs carry more complications, including urethrocutaneous fistula. Long-term follow-up matters even after a technically good repair — a significant number of adults have ongoing concern about cosmesis or sexual function, and review after puberty is reasonable.

Buried (concealed) penis

Also called hidden or concealed penis — a normal-sized penis obscured by prepubic skin, subcutaneous tissue or fat, so it appears abnormally small without being anatomically small. Most common in young children, especially those who are overweight; an adult-onset form (adult-acquired buried penis) is usually a consequence of obesity, though genital lymphoedema and post-circumcision scarring also contribute.

Mechanism: failure of skin fixation at the penile base, combined with excess suprapubic fat pushing the shaft inward.

Examination: manual pressure over the suprapubic fat pad reveals the true penile length is normal. Assess for complications of longstanding concealment — recurrent balanitis/UTI, voiding difficulty, and psychological distress.

Management:

• Children: usually resolves as they grow; conservative management is reasonable first-line. Surgery is reserved for persistent or severe cases, and is contraindicated where there’s an associated disorder of sex development, active penoscrotal infection, or uncorrected coagulopathy until those are addressed.
• Adults: rarely needs surgical intervention for functional or cosmetic reasons; weight loss is first-line where obesity is the driver. Surgical reconstruction (a range of techniques exist, with no single agreed standard) is an option for refractory cases affecting hygiene, voiding, or sexual function.