Why is congenital absence of vagina difficult to cure?

Most patients with congenital absence of vagina only have completely closed vaginal vestibule mucosa at the normal vaginal opening, with no trace of vagina. Some patients also have shallow depressions in the vaginal vestibule, and some have blind vaginas shorter than 3 cm. It is often accompanied by no deformity, and only slightly thickened strips of tissue are seen in the normal uterine position, located in the middle of the broad ligament. About 1/10 patients may have partial uterine body development and functional endometrium. After puberty, due to menstrual blood retention, periodic abdominal pain occurs, no menstruation, or it is not discovered until after marriage when they seek medical examination due to sexual intercourse difficulties.

1. Chromosomal abnormalities

Chromosomes are the basic substances that make up the cell nucleus and are the carriers of genes. Chromosome abnormalities are also called chromosome dysgenesis. Chinese American Jiang Youxing (1956) found that humans have 46 chromosomes, and Caspersson et al. (1970) published the first human chromosome banding photos.

2. Androgen Insensitivity Syndrome

The androgen receptor gene is located near the centromere of the long arm of the human X chromosome, contains 8 exons, encodes 910 amino acids, has two zinc finger regions in the middle, and an androgen binding region at the C-terminus. Gene mutations in certain parts can lead to androgen insensitivity syndrome or testicular feminization, clinically manifested as individuals with XY karyotype developing into seemingly normal but infertile women, with testicles usually remaining in the abdominal cavity and no spermatogenesis.

3. Drug effects

The mother used male hormones, anticancer drugs, thalidomide, etc. in the early pregnancy. Infection with certain viruses or toxoplasma in the early pregnancy.