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Results 1 - 10 of 12 for "46,XY" disorder of gonadal development
  1. Swyer syndrome 
    ... pure gonadal dysgenesis Genetic Testing Registry: 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis Genetic Testing Registry: Pure gonadal dysgenesis 46, ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  2. DHH gene 
    ... gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals have one altered DHH gene ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  3. NR5A1 gene 
    ... gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  4. MAP3K1 gene 
    ... variants have also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. These variants likely have similar but less ...
    https://medlineplus.gov/genetics/gene/map3k1 - Genetics
  5. SRY gene 
    ... region of the SRY gene in three Indian 46,XY females with sex reversal and ... and Their Role in Disorders of Sex Development. Sex Dev. 2022;16(2-3):80-91. ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
  6. 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
  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. NR0B1 gene 
    ... J, Staaf J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters ... exploring complexity in development. Mol Genet Metab. 2003 Sep-Oct;80(1- ...
    https://medlineplus.gov/genetics/gene/nr0b1 - Genetics
  10. WT1 gene 
    ... making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in males) before ... This condition is characterized by abnormalities in the development of the ... chromosome pattern (46,XY) but have external genitalia that do not look ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
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