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The word congenital refers to diseases or problems with the body that are present at birth. Congenital problems are commonly referred to as “birth defects”. These problems may be genetic, caused by difficulties during pregnancy or the cause may not be known. Congenital problems can range from very minor to severe and life-threatening. A congenital problem is the opposite of an acquired problem, which occurs with aging, repetitive use, lifestyle issues or injury.

Like other parts of systems of the human body, reproductive system or sexual organs are not free from birth defects. In male reproductive system, penis and scrotum in particular are at increased risk of various birth defects. Following are some of the major birth or congenital defects of penis:

Torsion of the penis

Torsion of the penis is a condition where the penis rotates around its longitudinal axis. It is a birth defect but may also occur as a complication to penile surgery. Torsion frequently passes unnoticed, and rarely do patients present with torsion as a complaint, especially that it does not hinder sexual activity. Nevertheless, some patients are heavily pounded by the psychological burden of penile torsion, and request correction.

Chordee

This defect is in front curvature of the penis, which is most apparent with erection and is caused by fibrous tissue along the usual course of the corpus spongiosum. It is often associated with another condition called hypospadias.

Phimosis

It is one of the most common penile birth defects but can also occur in later stages of life. Phimosis is when the foreskin is too tight, or the tip of the foreskin narrows and is unable to be pulled back to expose the head of the penis. Phimosis is often seen in children or young adults (primary or congenital phimosis). The condition is at its highest incidence rate before puberty. Severe phimosis can cause pain when urinating, urinary retention, urinary tract infections and the skin on the penis can become infected. In older men with severe phimosis, the foreskin can look swollen. Phimosis can be treated with steroid creams applied once or twice daily for a couple of weeks. Studies have shown that the creams have a success rate of more than 85 per cent.

Epispadias

Epispadias is a rare congenital (present from birth) defect located at the opening of the urethra. Urethra is a narrow tube inside the penis that acts as a passage way to expel urine out of the body.

In this condition, the urethra does not develop into a full tube and the urine exits the body from an abnormal location. The causes of epispadias are currently unknown. It may be related to improper development of the pubic bone.

Hypospadias

Hypospadias is one of the most common birth defects, occurring in around one in 300 births. Most often, hypospadias is noticed at birth; however, if the abnormalities are particularly mild, diagnosis may come later in life. The causes of hypospadias are unknown. There seems to be a genetic association, since a baby boy with a family history of hypospadias is slightly more likely to be born with the condition. Hypospadias is treated with surgery, usually when the child is between six and 18 months old. It is important not to have your son circumcised before the hypospadias repair, in case the foreskin is needed.

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Hypospadias commonly has four characteristics:

• The urethral opening is located on the underside of the penis, instead of the tip, and may exit the penis anywhere along its shaft as high as the scrotum.

• The urethral opening is unusually narrow.

• The entire foreskin may be bunched on the topside of the penis.

• The penis itself may be curved to one side.

Buried penis (concealed or hidden penis)

The term “buried penis” has been applied to a variety of penile abnormalities and includes an apparent buried penis that is obvious at birth.  Penis is normally developed but hidden under fat in suprapubic region, scrotum, perineum or thigh.

It may be complication of circumcision as after circumcision, the penis may become entrapped by scar tissue and retract into the pubic fat. This condition may correct itself naturally but sometimes requires surgery.  In adults, surgical repair may be complicated.

Micropenis

Micropenis refers to an extremely small penis with a stretched penile length of less than the average for age or stage of sexual development. It should be differentiated from a buried or hidden penis. All children above 1 year of age with a stretched penile length of less than 1.9 cm need are at risk of the disease and, therefore, should be checked by the doctor.  Micropenis is usually due to less than normal secretion of hormones of pituitary gland (growth hormone) or testes (testosterone). Irrespective of the underlying cause, a short course of testosterone is tried in patients with micropenis. Many studies have shown that most testosterone treated children have satisfactory gain in length of penis and sexual function.

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