Definition of Hypospadias

Hypospadia is a common congenital disease of the penis with an abnormal ventral opening of the meatus of the

urethra. Hypospadia are often associated with a ventral curvature of the penis (chordee) and/or a deficient

ventral prepuce (foreskin) with a dorsal "hood". The classification of hypospadias depends on the position of the

urethral meatus:

 Glanular

 Coronal

 Penile (distal-middle-proximal)

 Scrotal

 Perineal

Epidemiology of Hypospadias..1–8/1000 births. Distal hypospadias are more often. Theincidence of hypospadias is

increasing (see etiology).

Risk Factors for Hypospadias..Family history: about 7% of patients with hypospadia have children with hypospadia;

and 14% of male siblings of the index patient with hypospadia....Further risk factors: increased maternal age, low

birth weight, in-vitro fertilization.

Causes (Etiology) of Hypospadias

Embryology of the Male Urethra: The urethra emerges from the urethral folds, which fuse ventrally under

the influence of androgens. The fusion begins proximally in the 11th week of gestation and proceeds distally. The

fusion involves endodermal and ectodermal tissue. The androgen effect is mediated by the 5α-reductase.In

hypospadias, malformations concern the endodermal and ectodermal tissue. An example of an ectodermal

abnormality is the deficient ventral foreskin with a dorsal "hood". Endodermal abnormalities include the position of the

meatus, a deficient urethra distal to the meatus and chordee formation (urethral plate).

Androgen Deficiency: An absolute (low concentration) or relative (decreased sensitivity of the target tissue) androgen

deficiency is a major cause for the development of hypospadias. Many enzyme deficiencies which cause hypospadias

are known, such as 5α-reductase deficiency or defects of the androgen receptor. In 10–70% of severe proximal

hypospadias, an enzyme deficiency or hormonal disease affecting the androgens can be found.

Genetics: Hypospadias have a multifactorial etiology involving several known genes (polygenic disease). This can be

concluded from the family history and twin studies. In addition to the known enzyme defects (see above), most genes

involved in the etiology of hypospadias are still unknown.

Environmental Factors: A variety of substances with estrogenic activity contaminates the environment and is enriched

through the food chain. Substances with estrogenic activity are insecticides, natural estrogens from plants and

chemicals from the plastics industry. The impact on wildlife is well documented: thin egg shells in birds or penis

malformations in alligators. The worldwide increase in hypospadias in humans is also attributed to these

environmental factors.

Penis Curvature in Hypospadias: The chordee (urethral plate) has previously been considered the cause for ventral

penile curvature in hypospadias. This is now questioned by many studies. Penile curvature is now considered a part of

normal penile development. In addition, the conservation and utilization of the urethral plate is essential for

hypospadia operations popularized by Snodgrass. In the majority of cases, the curvature of the penis can be corrected

using the technique of Nesbit.

Signs and Symptoms Hypospadias are usually asymptomatic. Distal hypospadias without curvature do not cause any

functional limitations and are "only" a cosmetic problem due to the expectations of parents and patient

[fig. asymptomatic hypospadia of an adult]. Proximal hypospadias can disturb the control of the urine stream; an

accompanying curvature can hinder sexual intercourse.

Diagnostic work-up of Hypospadias

Basic Investigations:..In addition to a careful physical examination (position of the meatus, open processus vaginalis,

cryptorchidism, signs of DSD), ultrasound imaging of the urinary organs is necessary. If anomalies are identified, an

intravenous urography or micturition cystourethrogram may be necessary.

Investigations in Scrotal and Perineal Hypospadias:

The risk of disorders of sex development is increased in proximal hypospadias, the following evaluations are

necessary:

 Family history

 Karyotyping

 Hormone analysis

 Fibroblast culture with evaluation of androgen receptors and 5α-reductase enzyme activity.

 Pelvic ultrasound imaging, MRI and/or retrograde genitography

 Micturition cystourethrogram

 Cystoscopy

Treatment of Hypospadias

Principals of Hypospadia Surgery

Orthoplasty..Assessment and management of penile curvature is done after artificial erection of the penis. In the

majority of cases, the curvature of the penis can be corrected using the technique of Nesbit. In severe cases, grafting

of the tunica albuginea helps in straighting the penis. Resection of the chordee is only rarely performed. For

tubularized incised plate (TIP) urethroplasty, conservation of the urethral plate is mandatory.

Urethroplasty - Urethroplasty is reconstruction of the missing distal urethra. The below described surgical techniques

differ primarily in the technique of urethroplasty: application of flaps, incision of the urethral plate or free oral mucosa

transplants.

Neourethral coverage: A second layer of tissue covers the neourethra and prevents the formation of fistulas. Most

often, a pedicled subcutaneous (dartos) flap is raised from preputial, penile or scrotal skin.

Meatoplasty and glanuloplasty: Reconstruction of the meatus and the glans to achieve meatus at the tip of the penis

with a vertical slit.

Skin closure: Skin coverage of the penile shaft is achieved with various techniques (e.g. transfer of penile skin).

Hypospadia Repair with a Free Oral Mucosa Graft..Indications for the use of a free oral mucosa graft are situations

after failed hypospadias surgery.