Cases of female hermaphroditism?
summary
The hermaphroditism of external genitalia is caused by too high or insufficient androgen stimulation of embryo or fetus in uterine cavity. According to the different causes, hermaphroditism can be divided into the following three categories: female pseudohermaphroditism, male pseudohermaphroditism and gonadal dysplasia. The latter includes true hermaphroditism, mixed gonadal hypoplasia and simple gonadal hypoplasia.
Cases of female hermaphroditism?
1. Female pseudohermaphroditism: chromosome karyotype is 46, XX, gonad is ovary, uterus, cervix and vagina all exist, but external genitalia presents masculine performance, clitoris is thick, labia is combined into scrotum. The reason of high androgen can be caused by congenital adrenal hyperplasia or non adrenal origin. Congenital adrenal hyperplasia is an autosomal recessive genetic disease. Due to some enzyme defects in fetal adrenal cortisol synthesis, it leads to the disorder of cortisol synthesis and the increase of androgen synthesis. Cortisol deficiency and feedback can increase ACTH and cause hyperplasia and hypertrophy of reticular zone of adrenal cortex; Too much androgen causes female babies to be masculine, and with the growth of the baby, the masculine sexual characteristics become more and more obvious. Pregnant women taking androgen drugs during pregnancy, such as synthetic progesterone, danazol or methyltestosterone, have different degrees of androgen effect. Pregnancy during pregnancy or taking drugs can lead to the masculinization of female external genitalia, but the degree is lighter than congenital adrenal hyperplasia.
2. Male pseudohermaphroditism: male feminization, actually congenital androgen insensitivity syndrome, also known as testicular feminization syndrome. The karyotype of the patient was 46, XY, the gonad was testis, the genitalia was female, and there was no uterus. It can be divided into two categories. 2.1. Complete androgen insensitivity syndrome is also called testicular feminization syndrome. The most common male pseudohermaphroditism is X-linked recessive inheritance with 46.xy karyotype. The gonad is the testis and can secrete testosterone. However, due to the synthesis of androgen receptor in target cells, the target organ palace does not respond to androgen, which affects the development of sex organ palace towards male and ectogenial organ towards female. After puberty, breast development, pubic hair, axillary hair rare or absent. There is no uterus or fallopian tube. The vagina is blind, and the gonads are often located in the groin or abdominal cavity, sometimes down to the labia major. The appearance of testis is normal and immature. Incomplete androgen insensitivity syndrome is rare. The androgen receptor of the cells is partially deficient, resulting in incomplete masculinity, which makes it difficult to distinguish gender. Most of them are female, with 46, XY karyotype. They have testicles and are usually located in the abdominal cavity or inguinal region. The external genitalia are mostly hermaphroditism, showing different degrees of clitoral enlargement or short penis, short vagina, blind end, puberty can appear after the onset of pubic hair, axillary hair and clitoris continue to increase and other masculine performance.
3. True hermaphroditism: true hermaphroditism patients have both male and female gonads at the same time, but they are not fully developed, most of them are oodidymis. The external genitalia can be male, female or mixed type, and male type is more common, accounting for about 2 / 3. 46: XX is the most common karyotype, 46XX / 46XY is the other karyotype, 46, XY is rare. Cryptorchidism and hypospadias are common in male genitalia, and clitoral hypertrophy is common in female genitalia. After puberty, breast development, most of the hypoplastic uterus, a few may not uterus, more than half of menstruation or periodic hematuria.
matters needing attention
The diagnosis should be corrected according to the patient's original gender, desire and deformity degree. In principle, no matter what kind of hermaphroditism, except for those with well-developed penis, it is appropriate to raise them as females.
