Testicular feminization

Testicular feminization is a very serious male disease, and testicular feminization is closely related to congenital genetic factors. Generally speaking, testicular feminization is a congenital disease. After the problem of testicular feminization occurs, the normal development function of the male testicles will be seriously hindered, and it may also make the male reproductive organs completely female. In summary, the causes and harms of testicular feminization are as follows.

Causes

It is an androgen receptor mutation. The gene encoding the human androgen receptor is located on chromosome Xq11-22, is approximately 90KB, and contains 8 exons. The androgen receptor consists of three functional domains: a variable N-terminal transcriptional activation region, a highly conserved DNA binding region, and a moderately conserved C-terminal ligand binding region. After testosterone enters the cell, it is converted into dihydrotestosterone and binds to the receptor by 5α-reductase. Although testosterone itself can also bind to the receptor and produce an effect, the activation effect produced by dihydrotestosterone is stronger, 3 times that of testosterone. After the receptor binds to dihydrotestosterone, it enters the cell nucleus and binds to the androgen response element (ARE) to regulate the target genes of androgens.

Clinical manifestations

The patient's chromosome karyotype is normal male type (46, XY), and the gonads are normal testicles. The external genitalia are normal female type, with poor development of the labia majora and blind vagina. Two-thirds of the patients have no uterus and fallopian tubes, and the remaining one-third only have remnants. The epididymis and vas deferens are generally absent. The testicles are located in the labia majora, inguinal duct or abdominal cavity. Testicular histological examination is normal before puberty. After puberty, the seminiferous tubules shrink, spermatogonia are scarce, no sperm occurs, and Reidy cells show adenomatous hyperplasia. The testicles have a tendency to develop malignant tumors.

During puberty, female secondary sexual characteristics develop, breast development is the same as that of normal women, female body shape, sparse pubic and axillary hair, primary amenorrhea, and normal intelligence.

treatment

Children diagnosed before puberty should have regular B-ultrasound monitoring of testicular development. After puberty, the testicles should be removed after breast development is complete, and then estrogen replacement therapy should be given. For those with a short vagina, mold dilation can sometimes be enough to dilate and lengthen the vagina. If mold dilation fails, vaginoplasty is required.