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46,xx gonadal dysgenesis epibulbar dermoid



46,xx gonadal dysgenesis epibulbar dermoid Definition


46 Gonadal dysgenesis epibulbar dermoid can be best described as a female in her adolescent period that experiences no changes even during this age of puberty. This is because this disorder is a type of female hypogonadism. When this disorder is acquired, the ovaries do not develop and function to perform their duties. With this type of disorder, female patients experience a deficiency in their supply of estrogen while the LH and FSH levels are at their peak. It is advisable to give the patient hormonal treatments such as the introduction of estrogen and progesterone to the body.


46,xx gonadal dysgenesis epibulbar dermoid Diagnosis


Since the streak gonads are unable to develop the hormones estrogen and androgen, it often follows that at puberty, developments are hampered. With the absence of these hormones, the sexual characteristics that are supposed to appear during puberty do now show up such as the development of female breasts, growth of pubic hair, widening of the hips and pelvis, and the occurrence of menstruation. Most medical imaging would not be able to show the gonads that cause the problem but would show, instead, the presence of a uterus without the ovaries.


46,xx gonadal dysgenesis epibulbar dermoid Pathogenesis


Up to this point, this abnormality does not have a known etiology. It is still uncertain how this condition develops and it is hard to detect as the symptoms only occur on the onset of puberty. This is the phase when female bodies often develop and when it is noticed that the patient’s body remains like that of a child’s, it is only then that diagnosis can be made. There are some reported cases where it is the FSH-receptor that becomes abnormal and it is suspected that this triggers 46 Gonadal dysgenesis.


46,xx gonadal dysgenesis epibulbar dermoid Treatment


Most estrogen hormonal treatments are now being administered through the skin. The introduction of this hormone to the growing female would induce development of breasts and occurrence of menstrual period. And to further predict the exact time of the patient's menstrual period, it is best that she is given progestin which usually comes in the form of a pill. Since a patient suffering from 46 Gonadal dysgenesis epibulbar dermoid cannot produce her own eggs, she can only have babies if a fertilized egg is implanted in her uterus. In cases where even the uterus is absent, the most viable option is to adopt children or have someone become a surrogate parent.


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