True hermaphroditism

　　True hermaphroditism is an autosomal recessive inheritance, with a karyotype of 46, XX accounting for 60%, a karyotype of 46, XY accounting for 20%, and a mosaic karyotype of 46, XX/46, XY accounting for about 20%. In the gene tissues with a karyotype of 46, XX, Y-specific DNA probes did not detect the Y chromosome, so it cannot be explained by Y→X or Y→autosome translocation or sexual chromatin mosaicism. It has been proven that the genes controlling sexual development and differentiation may be located on the autosomes. There are reports of 46, XX karyotype twins where both H-Y are positive, with external genitalia deformities and both gonads being ovotestes, but the gender is one male and one female, which is believed to be inherited from the father and belongs to autosomal dominant inheritance. The specific cause of true hermaphroditism may be as follows:
　　1. Monosomic chromosomal mosaicism, which is caused by errors in meiosis or mitosis.
　　2. Non-monosomic chromosomal mosaicism, which is often the result of fusion of two fertilized eggs or two fertilizations.
　　3. Y chromosome translocation to X chromosome.
　　4. Autosomal mutation gene. The inheritance pattern of familial patients is autosomal recessive or dominant inheritance.

　　True hermaphroditism often is associated with hypospadias or penile frenulum, half of the patients have concurrent inguinal hernia and cryptorchidism. Hypospadias refers to a common urogenital system malformation caused by incomplete development of the anterior urethra, resulting in the urethral opening not reaching the normal position. It is often accompanied by multiple urethral openings, with abnormal urination as the main manifestation. The main symptom of inguinal hernia is an abnormal mass in the perineum, which can be confirmed by ultrasound examination. Cryptorchidism is usually found in infancy, and if found in adulthood, an orchidectomy should be performed to avoid complications such as testicular cancer.

　　True hermaphroditism patients are indistinguishable at birth, but are more inclined to be male, with about 3/4 of the children raised as boys. The scrotum is underdeveloped and resembles the labia majora. Most of the gonads can be felt in the inguinal canal or scrotum. Patients generally appear female secondary sexual characteristics during development, such as breast enlargement, female body shape, pubic hair distribution resembling females, and possibly menstruation. This is because any karyotype of true hermaphroditism has ovarian tissue, and the structure of the ovary is relatively complete, so most of the ovaries of true hermaphroditism can secrete estrogen during the development period. When ovulation occurs, gestagen is also secreted, so female secondary sexual characteristics may appear. However, the development of the breast is late, and most patients have uterus and vagina, with the vaginal opening in the urogenital sinus. The common uterine developmental disorders are underdevelopment and absence of the cervix.

　　If the gonads are ovaries, they are generally normal under the microscope, while testicles do not produce sperm under the microscope. Therefore, patients may have normal ovarian function, and a few patients can even become pregnant. Ovary-testis is the most common gonadal abnormality, about half of which are in the normal ovarian position, and the other half are in the inguinal canal or scrotum. The location of the ovary-testis is related to its composition; the greater the proportion of testicular tissue, the more likely it is to enter the inguinal canal or scrotum. The reproductive tubes on the side of the ovary are always fallopian tubes. The reproductive tubes on the side of the testicle are all vas deferens. As for the reproductive tubes on the side of the ovary-testis, they can be either fallopian tubes or vas deferens. This is related to the composition of the ovary and testis tissues, and fallopian tubes are more common.

　　True hermaphroditism is a congenital reproductive organ malformation with abnormal secondary sexual characteristics. The etiology of the disease is unclear and is related to chromosomal abnormalities, leading to unclear etiology of chromosomal malformation changes, which may be related to environmental factors, genetic factors, dietary factors, and emotional and nutritional factors during pregnancy to some extent. Therefore, the disease cannot be prevented directly. Early detection, early diagnosis, and early treatment are of great significance for indirect prevention of the disease.

　　The levels of urinary 17-ketosteroids, estrogens, and follicle-stimulating hormone in patients with true hermaphroditism are generally within the normal range, 60% of the karyotype is 46,XX, 20% is 46,XY, and the rest are various types of mosaics, with 46,XX/46,XY being more common. Ultrasound and urethral and vaginal造影 can help understand the presence of the uterus, cryptorchidism, and other malformations, and laparoscopy is helpful for diagnosis.

　　True hermaphroditism is a condition where ovarian and testicular tissues coexist in the body, the karyotype can be normal male, female, or mosaic, and the reproductive ducts and external genitalia are often hermaphroditic. There are no special dietary taboos for this disease, a light and nutritious diet should be maintained, and attention should be paid to dietary balance.

　　The appropriateness of gender assignment during the treatment of true hermaphroditism is crucial for the physical and mental health and development of the patient. It is generally believed that determining gender before 2 to 3 years old can prevent psychological abnormalities. In the past, the orientation of gender in true hermaphroditism was mainly determined by the appearance and function of the external genitalia to decide whether to perform male or female corrective surgery, rather than based on the gonads, internal genitalia structure, or karyotype. In recent years, especially for those with a karyotype of 46,XX, there is a tendency to modify them as females. Because the ovarian tissue sections of true hermaphrodites can mostly observe primordial follicles, 50% have ovulatory phenomena, and only 1.2% of those with bilateral testicular seminiferous tubules have spermatogenesis. 70% of true hermaphrodites have good breast development, 24.5% have poor development, and only 5.5% have no development. Male urethral repair and external genitalia shaping are more difficult and the effect is not ideal, while the survival rate of female shaping surgery is higher than that of males. About 30% of patients with a karyotype of 45,X/46,XY have the possibility of malignant transformation, and the testicles need to be removed.