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Results 1 - 8 of 8 for "46,XY" disorder of sex development
  1. 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
  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 ... 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
  3. 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
  4. 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
  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. LHCGR gene 
    ... OM, Chan WY. Luteinizing hormone receptor mutations in disorders of sexual development and cancer. Front Biosci. 2000 Mar 1;5: ...
    https://medlineplus.gov/genetics/gene/lhcgr - Genetics
  7. WT1 gene 
    ... provides information about 46,XX testicular difference of sex development More About This Health Condition MedlinePlus Genetics provides ... this condition have a typical male chromosome pattern (46,XY) but have external genitalia that do not look ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  8. NR0B1 gene 
    ... J, Staaf J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a ... The BT. Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep; ...
    https://medlineplus.gov/genetics/gene/nr0b1 - Genetics