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Etiology of hermaphroditism
Etiology of costal chondritis
True hermaphroditism may be caused by:
(1) Monozygotic sex chromosome mosaic, which is caused by meiosis or mitosis errors;
Non-monozygotic sex chromosome mosaic, which is often the result of fusion or twice fertilization of two fertilized eggs;
Translocation of Y chromosome to X chromosome;
④ Autosomal mutation gene. The inheritance mode of familial patients is autosomal recessive or dominant inheritance.
Second, the pathogenesis:
Chromosomal recessive hermaphroditism is 46, XX accounts for 60%, XY accounts for 20%, chimera 46, XX/46, XY accounts for about 20%. Y chromosome was not found by Y-specific DNA probe in 46XX gene tissue, so the pathogenesis could not be explained by Y → X or Y → autosomal translocation or chimerism through sex staining. It has been proved that the genes controlling development and differentiation may be located in autosomes. It has been reported that both siblings of 46 and XX karyotype are H-Y positive, and the gonads of external genital malformations are egg testis, but the sex is one male and one female, which is considered to be transmitted from the father and belongs to autosomal dominant inheritance.
Cells cultured from the testis of XX true hermaphroditic ovary were positive for H-Y antigen, while those cultured from ovary were negative, suggesting that ovary testis originated from H-Y positive/H-Y positive chimeric primordia.
True hermaphroditism karyotype 46, The etiology of XY needs further study, Their pathogenesis is similar, XY incomplete gonadal dysplasia, In the early stage of testicular development, Gene variation related to testicular development in reproductive ridge and other regions, while the other region retains the tendency to differentiate into ovary. Because of the lack of double X chromosome, primordial follicles in ovarian tissue accelerate differentiation. If some follicles are preserved, this disease is called true hermaphroditism, and if only ovarian stroma is preserved, it is called gonadal hypoplasia. Therefore, the incomplete development of testes and gonads is probably different in the same process.
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