Paediatrics: types, symptoms and diagnosis of hypospadias

Hypospadias is a congenital malformation of the urinary tract affecting as many as 1 in 300 births.  Due to a lack of or incomplete development, the urethra does not exit at the apex of the penis, in the orifice known as the external urethral meatus (E.U.M.), but at a point on its lower face, i.e. the ventrally-facing one

Types of hypospadias

Various classifications of the pathology have been developed by physicians and scholars over the years, but one can simplify by indicating 3 main types of hypospadias:

A) distal, also referred to as anterior or minor, accounts for about 70% of cases: it is the mildest form, characterised by the urethra protruding not in the apex, but always in the area of the tip of the penis. It can be further sub-classified according to the anatomical position in which the urethral orifice is present into:

  • distal navicular, in the glans area;
  • distal balanal or distal coronary, in the borderline between glans and penis;
  • distal sub-coronary, just below the coronary groove;

B) mid-penile, affects about 10% of cases: the M.U.E. (external urethral meatus) is located in the mid-penile area;

C) proximal, also called posterior, accounts for about 20% of cases): this is the most severe form, in which the urethra protrudes at the base of the penis. This too can be further sub-classified depending on the anatomical position of the urethral orifice into:

  • proximal penile-scrotal, in the junction area between penis and scrotum;
  • proximal scrotal, in the scrotum;
  • proximal perineal, in the perineum, below the testicles.

The position of the meatus alone does not always define the true severity of the type of hypospadias, and there may be distal forms with a ‘hypoplastic’ urethra, i.e. underdeveloped, which therefore represent a far more serious picture.


The causes of hypospadias

The causes of this pathology can usually be identified in a concomitance of factors including

  • genetic familiarity, such as the father of the child suffering from hypospadias;
  • deficits and abnormalities in the child’s testosterone production or exposure during pregnancy to female oestrogen;
  • fetal exposure to smoking, ionising radiation, chemicals or vitamin deficiencies;
  • maternal diseases, such as diabetes mellitus;
  • pregnancy of the woman at an advanced age;
  • premature birth.


Hypospadias, understood as a malformation of the urethra, also affects the various anatomical components of the penis, such as the foreskin and the skin, with manifestations that vary depending on the severity of the form found.

The clinical manifestations with which the disease presents itself are mainly

  • presence of the M.E.U. in an abnormal position;
  • downward curvature of the penis (griposis) with greater severity in proximal forms;
  • incomplete foreskin on the ventral side and with an excess of skin on the dorsal side creating a characteristic ‘beret’ appearance;
  • deviations of the raphe, the medial line running from the scrotum to the foreskin, with torsions and lateral rotations of varying degrees;
  • urination problems, in cases where there is also a stenosis (narrowing) of the external urethral meatus, also depending on the severity of the clinical form.


The diagnosis of the malformation is usually made at birth and, in the most severe cases, even in the pre-natal age.

The diagnosis is then confirmed by the neonatologist who proceeds to assess the severity of the abnormality as well as the correct functioning of the urinary tract and other body districts.

The examination may also be associated with a

  • renal and bladder ultrasound, to rule out the possible presence (rare) of any abnormalities in the urinary tract;
  • micturition cystography, i.e. an X-ray examination carried out with contrast medium which, in the most serious cases, serves to rule out the presence of a prostatic utricle, i.e. an embryonic remnant of the female genitals that looks like a small pear-shaped formation, ed.

It must be remembered, then, that hypospadias can be part of a more articulated clinical picture, as a symptom of numerous and complex malformations that can also affect brain functions and other organs of the child, such as testicular retention (cryptorchidism): the anomaly most frequently associated with hypospadias (5-10% of cases).

Reconstructive surgery to correct hypospadias

Hypospadias requires reconstructive surgery (urethroglanduloplasty) and, in the majority of cases, today it can be corrected in a single operation performed by a specialist team on an outpatient or overnight basis, leaving only the most complex situations to be planned over several times.

The techniques available for the correction of hypospadias are numerous and, essentially, urethral reconstruction can be performed

  • tubulating the urethral plate (T.I.U.P.), thus giving the tissues that should have composed the urethra (urethral plate) the appearance of a functional tube;
  • enlarging the urethral plate, whereby the urethra is reconstructed using the excess foreskin of the upper (dorsal) face of the penis, by means of a pedicled flap, i.e. a skin flap that remains in connection with the deeper layers of tissue by means of a pedicle, i.e. one or more structures that determine the vascularisation.

Possible complications

Reconstructive hypospadias surgery is one of the most delicate and complex in paediatric urology.

In fact, the fragility of the anatomical area involved, given the very young age of the patients, makes this type of operation extremely critical, which is why careful evaluation is always necessary even for the treatment of those forms that present as mild.

One of the most frequent complications of surgery is represented by urethral fistulas (15% of cases) that may close spontaneously or require a surgical approach, always in Day Hospital.

Hypospadias, the post-operation

After surgery, in the majority of cases a catheter is inserted for the temporary diversion of urine, to be maintained for one or a few days, to allow proper healing and consolidation of the newly reconstructed urethra.

A compression dressing to immobilise the operated penis is also generally necessary to reduce oedema and possible bleeding.

Pinkish-coloured urine and swelling of the area even after the dressing has been removed are to be considered normal.

Considerable improvement will occur after about 2 weeks, but definitive healing of the genital area will be visible after a few months.

Post-operative pain is generally low: the child may present with bladder spasms that can be uncomfortable, but can be managed with the administration of some myorelaxant drugs (oxybutynin) and paracetamol.

The sensation of having to urinate urgently regardless of the correct functioning of the catheter may also be experienced.

There are usually no restrictions on physical activity after discharge, as long as trauma or contact with the genital area is avoided in the two to three weeks following the operation.

When and whether to perform hypospadias surgery?

In most forms of hypospadias the anatomical defects reported are small, however the need and/or choice of recourse to surgery must be carefully evaluated by the specialist and the child’s family with openness and honesty, analysing the pros and cons according to the particularities of each case.

Particular attention must also be paid to the emotional-psychological implications of both the procedure and the pathology, which are also inextricably linked to the child’s growth and acquisition of self-awareness and fear of pain.

The optimal age for surgical intervention is within the first year of life, a period in which the child is not yet aware of gender identity, the presence or absence of physical malformations, and does not generally present those frequent opportunities for socialisation that will be found with school entry.

Even for more complex procedures, if performed in young children, the need for substantial hospitalisation following the operation is reduced.

The importance of periodic check-ups

Hypospadias, even in the mild forms for which surgical correction is not required, but especially after surgery, requires constant follow-up up to adolescence, characterised by the delicate phase of pubertal development.

In the most severe forms of hypospadias, in fact, the penis may be very small and an endocrinological and andrological evaluation is certainly appropriate.

In addition, some features, such as curvature, may re-emerge even after surgery and, in particular, precisely during puberty, when the development of the male genital organ triples in size and may require, in some cases, a further surgical approach.

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