What are the symptoms of urethral malformation?

The urethra is an important component of the urinary system. If the urethra is deformed, the patient will not only experience obvious pain, but if the condition is serious, it will also affect the patient's urination. Urethral malformation seriously affects normal urination, so patients must receive timely diagnosis and treatment to avoid affecting the functioning of other organs.

Urethral malformations can be divided into epispadias and hypospadias. Both epispadias and hypospadias are congenital malformations of the penis, which are caused by defects of varying degrees in the corpus spongiosum and the anterior urethra. The main manifestations are: the external urethral opening is located in any part of the scrotum or penis, and the penis may even bend downward due to incomplete development of the urethral epithelium.

Clinical classification

According to the different locations of the urethral opening, urethral malformations can be divided into the following types:

1. Coronal sulcus type: The external urethral opening is located on the ventral side of the coronal sulcus, that is, on the ventral side of the depression behind the glans penis.

2. Penis head shape: is the most common. The external urethral opening is located in the frenulum of the foreskin (i.e., the skin on the ventral midline of the glans penis, connecting the foreskin and the lower end of the external urethral opening), and the degree of deformity is generally mild.

3. Penis shape: The external urethral opening can be located at any part of the ventral side of the penis, and the penis has varying degrees of curvature deformity toward the ventral side.

4. Perineal type: The external urethral opening is located in the perineum, the penis is short and severely bent downward, and the scrotum is split in the middle into two petals, shaped like the female vulva.

5. Penis-scrotal type: The external urethral opening is located at the junction of the penis and scrotum, and the penis is severely curved.

Clinical manifestations

This congenital malformation usually has no effect on the child itself except for the parents who know about it in their early years. Although the position of the urethral opening is abnormal, it is not narrow and does not affect the discharge of urine. By the time the child enters kindergarten, he or she often develops self-pity due to the inability to urinate upright, and often behaves less lively. When they reach adult marriage age, they cannot have a normal sex life after marriage because their penis cannot stand upright. The diagnosis of this disease can be confirmed at a glance. All types have varying degrees of penile curvature, with the foreskin piled up like a cap on the back of the glans penis, and an unclosed urethra can be seen on the ventral side as a shallow groove.

The scrotal and perineal types often present with scrotal fissures, and may present with male pseudohermaphroditism due to the prostatic sac becoming deeper and resembling a vagina, the presence of a uterus and fallopian tubes, and cryptorchidism. The main basis for distinguishing this disease from adrenal sexual characteristics disorder and true hermaphroditism is: ① The nuclear chromosome karyotype is XY for males and XX for females; ② Check the chromatin of oral or vaginal epithelial cells. The chromatin positivity rate is 0-5% for males and higher than 10% for females; ③ When the urinary 17-ketosteroid excretion increases significantly, it may be adrenal sexual characteristics disorder (female virilization); ④ If the gender cannot be determined, the gonad biopsy is used as the basis.