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Failure to develop ovaries and testicles: How inheritance and genetic mutations shape our sexual characteristics?
In the biomedical field, the complexity of gender development continues to cause people to think deeply. When it comes to congenital developmental disorders of the reproductive system, the failure of ovaries and testicles to develop, i.e. gonadal dysgenesis, has become an important research topic. These developmental disorders are usually associated with genetic mutations during embryonic development and affect an individual's sex characteristics and fertility.
The failure of ovaries and testes to develop is due to the loss of primordial germ cells during embryonic development, which eventually causes the gonads to become fibrous tissue, known as "striated gonads."
According to medical research, the normal development of gonads is mainly controlled by chromosome sex (XX or XY). During this process, gonad differentiation depends on the regulation of a considerable number of genetic, molecular and morphological events. Although these events usually proceed as planned, any genetic mutation can result in incomplete or abnormal development of the gonads.
Classification of agenesis of ovaries and testicles
Failed ovaries and testes can be divided into several types, including complete 46,XX gonadal dysgenesis, complete 46,XY gonadal dysgenesis and mixed gonadal dysgenesis. Each of these different diagnoses has its own specific etiology and clinical presentation.
46,XX gonadal dysplasia
This type is characterized by hypogonadism in females, manifested by infertile, streaked ovaries. Because the ovaries cannot secrete enough estrogen, this leads to communication disorders with the lower pituitary gland, which in turn causes an abnormal increase in the secretion of FSH and LH, resulting in the inability to enter puberty and the lack of secondary sexual characteristics.
If ovarian tissue is present and secretes certain hormones, limited menstrual cycles may occur.
46,XY gonadal dysgenesis
As for 46,XY gonadal dysgenesis, its main feature is male hypogonadism, and it is mostly caused by the deletion or mutation of the SRY gene on the Y chromosome. If one of these genes mutates, it will affect the normal development of male genitals and may even lead to complete or partial feminization of the genitals.
In the mother's body, all fetuses are in an undifferentiated state, and then begin to differentiate under the influence of male hormones and activation of the SRY gene.
Mixed gonadal dysgenesis
This condition is usually caused by abnormalities in sex chromosomes and the mosaic phenomenon of the Y chromosome. Such patients may display varying degrees of gonadal dysgenesis and may present with considerable variation in sexual characteristics.
Turner Syndrome
Turner syndrome, also known as 45,X or 45,X0, is caused by a partial or complete loss of the second X chromosome, resulting in failure of the ovaries to develop normally, leading to infertility and failure to enter puberty. The clinical manifestations of Turner syndrome range from short stature to various congenital defects and comorbid conditions.
Endocrine Disruption
The impact of various external disruptors on the endocrine system is also an important aspect of research. These endocrine disruptors disrupt hormonal signaling during the embryonic period, thereby affecting normal reproductive system development.
Diagnosis and Management
Currently, the diagnosis of non-developing ovaries and testes remains a challenge and usually requires a combination of methods such as chromosome analysis and hormone level assessment. However, professional medical support can give these patients a better chance of survival.
Overall, research on non-developing ovaries and testes helps us deepen our understanding of the formation of human sexual characteristics, but as science advances, there are still many questions that need to be answered. How can we better support the gender development and quality of life of these patients?
