Hypospadias

　　Hypospadias has a certain familial tendency, but the specific genes or chromosomes involved are not yet clear. We have encountered several cases of father and son or brothers, especially identical twins suffering from this disease, with reports that 10% of the children's fathers and 15% of the children's brothers have hypospadias. The hormones produced from the fetal testis affect the formation of male external genitalia. The corpus luteum-stimulating hormone stimulates the Leydig cells in the testis to produce testosterone starting from the 8th week of pregnancy, which is then converted into dihydrotestosterone. The development of external genitalia is regulated by dihydrotestosterone. Insufficient testosterone production, delayed production, or abnormal conversion of testosterone to dihydrotestosterone can lead to genital malformations. Hypospadias often occurs with cryptorchidism, and intersexuality is related to this. The use of hormones before and during pregnancy also has a certain impact on the development of the fetal reproductive system. Environmental factors also have an impact on the development of the urethra mainly through the endocrine systems of the mother and the fetus.

　　The most common associated malformations of hypospadias in children are inguinal hernia and incomplete descent of the testes, each accounting for about 10%. The severity of hypospadias is higher, and the incidence of associated malformations is also higher. The incidence of associated upper urinary tract malformations in hypospadias patients ranges from 1% to 3%, such as obstruction at the renal pelvis and ureteral junction, duplication malformation, etc., and a few patients have associated anal and rectal malformations.

　　Hypospadias in children is one of the most common congenital malformations in the pediatric urogenital system, and its clinical manifestations are as follows.

　　1. Abnormal position of the urethral opening: The urethral opening is ectopic at any position from the proximal end of the normal urethral orifice to the perineum. Some urethral openings have slight stenosis due to the incomplete coverage of a very thin mucosal-like tissue. Sometimes a segment of the urethral corpora cavernosa is absent, its wall is thin, and the urine stream is generally backward, so the child often adopts a squatting position to urinate, and it is more obvious when the urethral opening is located near the body of the penis.

　　2. The penis bends ventrally: Mainly due to the hyperplasia of the urethral plate fibrous tissue at the distal end of the urethral orifice, the lack of tissue layers on the ventral side of the penis and the urethral wall, and the asymmetry of the dorsal and ventral sides of the corpora cavernosa of the penis.

　　3. The prepuce is stacked on the dorsal side: The prepuce on the ventral side of the glans penis cannot fuse at the midline, the frenulum is absent, and all the prepuce turns to the dorsal side of the penis, forming a cap-like stack. According to the position of the urethral orifice, hypospadias is divided into 4 types: glans type, penile type, scrotal type, and perineal type. This classification is often difficult to accurately determine before surgery, and some cases have very severe penile curvature, with the urethral opening still located at the distal end of the penis, and the child can even stand to urinate. However, once the fibrous band tissue is released during surgery, the urethral opening will recede to the proximal end of the penis. To estimate the surgical outcome, it should be classified according to the position of the receded urethral opening after the penile downward curvature is fully corrected.

　　This disease has a genetic factor, and birth defects are an important reason affecting the health of infants and children. At present, there is no effective preventive method for this condition. To reduce the incidence of this condition, preventive measures should be referred to other birth defects, and the prevention of birth defects should be from pre-pregnancy to prenatal, such as:

　　1. Pre-marital physical examination plays a positive role in preventing birth defects. The extent of its role depends on the examination items and content, mainly including serological examinations (such as hepatitis B virus, syphilis spirochete, HIV), reproductive system examinations (such as screening for cervical inflammation), general physical examinations (such as blood pressure, electrocardiogram), and inquiring about family medical history, personal medical history, etc., and doing a good job in genetic counseling work.

　　2. Pregnant women should try to avoid harmful factors, including staying away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, and toxic and harmful heavy metals. During the prenatal care process of pregnancy, systematic screening for birth defects should be carried out, including regular ultrasound examinations, serological screenings, and, if necessary, chromosomal examinations.

　　This disease generally has normal routine laboratory tests. When complications such as infection occur, the urine examination shows an increase in leukocytes. The sex chromatin of male hypospadias should be negative, the sex chromosome should be XY, the urinary 17-ketosteroids should be normal, and the testicular biopsy should be of the testis. In addition to laboratory tests, auxiliary examinations can also be taken for this disease, and the specific situations of these two aspects of examination are as follows.

　　1. 17-ketosteroid test: If the urinary 17-ketosteroids are elevated, it can indicate adrenal cortical hyperplasia, and the possibility of female pseudohermaphroditism is the highest. If the urinary 17-ketosteroids are normal, the possibility of female pseudohermaphroditism cannot be excluded, and further examination is needed.

　　2. Sex chromatin test:Commonly used oral mucosal epithelium, vaginal mucosal epithelium, skin, or leukocytes are examined after special staining. Inside the nuclear membrane, there are chromatin aggregates with a diameter of 0.5～1.0μm, in the shape of a mallet, known as sex chromatin. There is a significant difference between males and females (due to the different staining methods used, the cells examined are different, so the constants are also different), with the female sex chromatin being positive in more than 10% (known as positive), and the male being less than 5% (known as negative), which is used in clinical sex determination. If the sex chromatin is positive, it can negate hypospadias and confirm female pseudohermaphroditism or true hermaphroditism. If the sex chromatin is negative, hypospadias cannot be definitely excluded, and further differentiation from true hermaphroditism is still needed.

　　3. Karyotype test:Under certain conditions, it is best to perform a karyotype test, which is more reliable than a sex chromatin test. If it is XX, it is a female, and hypospadias can be excluded. If it is XY, in addition to the possibility of hypospadias, it is also necessary to further differentiate from true hermaphroditism.

　　4. Abdominal Ultrasound:Check for the presence of ovaries, uterus, etc.

　　5. Endoscopic examination:The presence of a vaginal fossa in the posterior urethra indicates the existence of the female reproductive tract. The presence of the seminal gland indicates the male reproductive tract. If both are present, it indicates that there is not only urethral malformation but also reproductive tract malformation, and further examination is needed.

　　6. Laparotomy and sexual gland biopsy:If the 17-ketosteroids are normal, the sex chromatin is negative, and the sex chromosomes are XY, it is necessary to perform laparotomy and sexual gland biopsy to differentiate from true hermaphroditism.

　　The diet of children with urethral agenesis should be light, with a preference for vegetables and fruits such as bananas, strawberries, and apples, as they are rich in nutritional components. Eat more immunity-boosting foods such as propolis to enhance personal resistance to diseases. In addition, it is necessary to rationally match the diet and ensure adequate nutrition. Avoid spicy, greasy, and cold foods to prevent recurrence of the disease.

　　Surgical correction of urethral reconstruction is the only treatment method for urethral agenesis. The surgery aims to achieve complete correction of the downward curvature of the penis, the normal opening of the urethra at the tip of the penis, the ability to stand and urinate, and the ability to have normal sexual life after adulthood. Comprehensive analysis of Chinese and foreign literature reports more than 200 surgical methods, but to date, there is still no satisfactory surgical method accepted by all physicians. Relatively common surgical methods include urethral preposition with glansplasty, urethral reconstruction, and包皮内板横行岛状皮瓣尿道成形术, etc. In the past 10 years, Europe and America have more frequently applied the longitudinal incision and tubular urethral reconstruction technique (also known as Snodgrass technique) in urethral agenesis without downward curvature of the penis. Boston Children's Hospital reported that 50% of their urethral reconstruction surgeries used this method. The main characteristics are simple surgery, aesthetically pleasing urethral orifice, and low complications. Since most children with urethral agenesis cannot urinate normally and are prone to psychological burden, affecting psychological development, early surgery is now advocated. The age for surgery can be advanced to 6 months.