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Ovarian dysgenesis
- ... with Perrault syndrome have abnormal or missing ovaries (ovarian dysgenesis), although their external genitalia are normal. Severely affected ... recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian dysgenesis with sensorineural deafness Genetic Testing Registry: Perrault syndrome ...
- ... Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am ...
- ... females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using ...
- ... Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc ...
- ... K, Bashamboo A. Mutations in NR5A1 associated with ovarian insufficiency. N ... Morel Y. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient ...
- Childhood extracranial germ cell tumors treatment options include surgery, observation, and chemotherapy. Learn more about newly diagnosed and recurrent ...
- Cancer in Children/Treatments and Therapies ... Cancer in Children ... Childhood extracranial germ cell tumors treatment options include surgery, observation, and ...
- Cancer in Children/Specifics ... Cancer in Children ... Testicular Cancer/Children ... Testicular Cancer ... National Cancer Institute ... From the National Institutes of Health
- ... but egg cells usually die prematurely and most ovarian tissue breaks down before birth. Many females with ... percentage of people with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of ...
- ... syndrome, also known as 46,XY complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis. Swyer syndrome is a condition that affects sex ... XY difference of sex development, or partial gonadal dysgenesis. The effects of these variants on the function ...