HYPOSPADIAS

Overview: Hypospadias is an abnormality of anterior urethral and penile development in which the urethral opening is anywhere along a line (the urethral groove) running from the tip along the underside (ventral aspect) of the shaft to the junction of the penis and scrotum or perineum. The penis is more likely to have associated ventral shortening and curvature, called chordee, with more proximal urethral defects.

Phenotype/Characteristics: The opening of the urethra that carries the urine is located underside of the penis, and can occur anywhere from just below the end of the penis to the scrotum. Hypospadias can also manifest as an abnormally positioned genitals.

Severe hypospadias have associated structural anomalies such as undescended testicles (10 % of cases) and inguinal hernia. Enlarged prostaric utricle can predispose a patient to urinary tract infections, pseudo-incontinence and stone formation.

This condition may cause a downward curve of the penis during an erection. Erections are common in infant boys.

Other symptoms include:

• Abnormal spraying of urine
• Having to sit down to urinate
• Foreskin that makes the penis looks like it has a "hood"

Frequency: Hypospadias occurs in up to 4 in 1,000 newborn boys. Sometimes, the condition is passed down through families.

Diagnosis: This problem is almost always diagnosed soon after birth during a physical exam. Imaging tests may be done to look for other congenital defects.

The diagnosis of hypospadias can be made prenatally using both prenatal fetal ultrasonography and MRI.

Causes:

·         Genetic factors

o    Inadequate human chorionic gonadotropin (HCG) produced by a single placenta (commonly with twins), with an inadequate supply during critical periods of urethral development cause hypospadia

o    Inhertitance is polygenic; male children of fathers with hypospadias has been reported as 8%, and 14% of brothers of children with hypospadias are also affected.

·         Endocrine factors

o    A decrease in available androgen or an inability to use available androgen appropriately may result in hypospadias.

o    A higher incidence of hypospadias in winter conceptions has also been proposed.

o    Other factors that contribute to infertility, such as underlying endocrinopathies or fetal endocrine abnormalities, may play a role.

·         Environmental factors

o    Endocrine disruption by environmental agents is blamed for increasing incidence

o    Estrogenic substances have been implicated in abnormal penile development in many animal models.

·         Combination theory: A growing body of evidence suggests that the development of hypospadias is multifactorial

Treatment/Recommendations/Therapies:

Minor cases of hypospadias, in which the meatus is located up toward the tip of the glans, may not require surgical repair and may simply be managed with observation.

Infants with hypospadias should not be circumcised. The foreskin should be kept for use in later surgical repair.

Surgery is usually done before the child starts school. Today, most urologists recommend repair before the child is 18 months old. Surgery can be done as young as 4 months old. During the surgery, the penis is straightened and the opening is corrected using tissue grafts from the foreskin. The repair may require multiple surgeries.

Because most patients with hypospadias are surgically treated at a very young age, parental teaching and reassurance is very important to ensure a satisfactory experience for the families of patients with hypospadias. Evidence suggests that online support groups can play an important role in how parents and patients cope with this condition.

Support Groups:

Hypospadias and Epispadias Association, Inc.

http://heainfo.org/

References:

Kaneshiro, N. (2012). Hypospadias. MedLine Plus. Retrieved March 12, 2013 from the URL: http://www.nlm.nih.gov/medlineplus/ency/article/001286.htm

Gatti, J. (2011). Hypospadias. MedScape. Retrieved March 12, 2013 from the URL: http://emedicine.medscape.com/article/1015227-followup#a2651

Photo from:
http://www.cdc.gov/ncbddd/birthdefects/images/hypospadias-sm.jpg