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Results 1 - 10 of 32 for "46,XY" disorder of sex development
  1. Leydig cell hypoplasia 
    ... ovulation, leading to inability to have children (infertility). 46,XY disorder of sex development due to LH defects LCH Leydig cell agenesis ...
    https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia - Genetics
  2. Swyer syndrome 
    ... 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): ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  3. 17-beta hydroxysteroid dehydrogenase 3 deficiency 
    ... male, with gynecomastia Testosterone 17-beta-dehydrogenase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ...
    https://medlineplus.gov/...hydroxysteroid-dehydrogenase-3-deficiency - Genetics
  4. NR5A1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  5. DHH gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  6. MAP3K1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/map3k1 - Genetics
  7. 5-alpha reductase deficiency 
    ... Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency National ...
    https://medlineplus.gov/.../condition/5-alpha-reductase-deficiency - Genetics
  8. TSPYL1 gene 
    ... A. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009 Oct;92( ...
    https://medlineplus.gov/genetics/gene/tspyl1 - Genetics
  9. Differences of sex development 
    ... 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), ...
    https://medlineplus.gov/ency/article/001669.htm - Medical Encyclopedia
  10. 46,XX testicular difference of sex development 
    ... 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- ...
    https://medlineplus.gov/...-testicular-difference-of-sex-development - Genetics
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