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Results 1 - 10 of 33 for "46,XY" disorder of sex development
  1. ... ovulation, leading to inability to have children (infertility). 46,XY disorder of sex development due to LH defects LCH Leydig cell agenesis ...
  2. ... XY XY pure gonadal dysgenesis Genetic Testing Registry: 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis Genetic Testing ... Vilain E. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb;100(2): ...
  3. ... gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals ... of health problems. NR5A1 gene variants that cause 46,XY disorder of sex development impair the function of steroidogenic factor 1, though ...
  4. ... Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients. J Sex Med. 2017 Sep; ... Nishi MY, Carvalho FM, Tibor FD, Domenice S. 46,XY disorder of sex development (DSD) due to 17beta-hydroxysteroid dehydrogenase type 3 ...
  5. ... gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals ... reproductive organs.Some people with the features of 46,XY disorder of sex development caused by DHH gene variants also have nerve ...
  6. ... variants have also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. ... Sinclair A, Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in ...
  7. ... A. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009 Oct;92( ...
  8. ... chromosome configurations other than simple 46, XX or 46, XY can result in disorders of sex development. These include 45, XO (only one X chromosome), ...
  9. ... separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. J Med Genet. 2015 Apr;52(4):240- ...
  10. Causes for ambiguous genitalia include: 46, XX disorder of sex development (DSD) and 46, XY DSD. The genitalia are of one sex, but some physical characteristics of the other sex are present. Ovotesticular DSD. This is a very ...
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