Gonadal dysgenesis - Definition, Symptoms, Causes, Treatment

Gonadal dysgenesis is the abnormal development of the reproductive system. It is a congenital problem. In this disease, there may be loss of germ cells or deficient germ cells on the developing reproductive system at embryonic stage. These deficient germ cells then lead to the under developed gonads i.e. hypoblastic and dysfunctioning of gonads. The dysfunctioning of gonads composed of fibrous tissues i.e. in streak gonads the ovary is composed of or replaced by functionless tissues. The streak gonads is a form of aplasia.

The hormone failure is also responsible for the under development of the reproductive system secondary characters in sex i.e. the women have under developed genital organs like infantile female appearance and infertility. At the stage of embryogenesis, the patient give rise to the female reproductive organization. As a result of this, the patient either male or female, may develop the external female genitalia. The internal genitalia i.e. formation of uterus may or may not occur in patient due to the underlying cause. In every person, it is necessary to have functioning hormones and gonads for the puberty. As the gonads in association with pituitary gland and hypothalamic produce hormones for functioning. That is why, the gonadal dysgenesis also occur due to hormonal problems.

Gonadal dysgenesis Symptoms

       
The gonadal dysgenesis have many signs and symptoms related to it. As it is concerned with the puberty of the person either female or male so it can appear as failed puberty i.e. sexual organs do not develop, delayed puberty i.e. the sexual organs develop but late, amenorrhea i.e. abnormal bleeding from vagina. The sex organs may be under developed. The men may have poor libido. In women, there can be lack of development of breast at the stage of puberty. Ambiguous genitalia may also occur as a visual sign.

Gonadal dysgenesis Causes

     
The gonadal dysgenesis may occur due to the abnormal division of chromosomes at the stage of embryo. The main causes reported behind gonadal dysgenesis are as follows:

• It can occur as a result of turner syndrome and also due to its variations like mosaicism.
• XX gonadal dysgenesis is also responsible for the gonadal dysgenesis.
• Swyer syndrome is another cause behind gonadal dysgenesis.
• Perrault syndrome and sensor neural hearing loss ultimately cause gonadal dysgenesis.
• Mixed gonadal dysgenesis and exposure to environmental endocrine disruptors are the last but not least reported causes of gonadal dysgenesis in human.

Gonadal dysgenesis Treatment

As the patients with gonadal dysgenesis have low level of estrogen in their body and elevated level of FSH and LH. So the drugs for the elevation of estrogen hormone are prescribed. The gonadal dysgenesis is either XX gonadal dysgenesis or XY gonadal dysgenesis. And the treatment is according to the condition and the site involved. In the women with under developed breast, plastic surgery is performed. The loss of libido is also treated with the medications like sildenafil. As this disease is congenital, so there is not a proper permanent treatment to it but is temporary treated.