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Results 1 - 10 of 10 for Ambiguous genitalia
  1. NR5A1 gene 
    ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals ... 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. MAP3K1 gene 
    ... also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. ... 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
  3. DHH gene 
    ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals ... 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
  4. LHCGR gene 
    The LHCGR gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have ...
    https://medlineplus.gov/genetics/gene/lhcgr - Genetics
  5. CYP17A1 gene 
    The CYP17A1 gene provides instructions for making a member of the cytochrome P450 enzyme family. Like other cytochrome P450 enzymes, CYP17A1 is involved ...
    https://medlineplus.gov/genetics/gene/cyp17a1 - Genetics
  6. WT1 gene 
    The WT1 gene provides instructions for making a protein that is necessary for the development of the kidneys and gonads (ovaries in females and testes in ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  7. SRD5A2 gene 
    The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are ...
    https://medlineplus.gov/genetics/gene/srd5a2 - Genetics
  8. ARX gene 
    ... X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  9. TSPYL1 gene 
    ... 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
  10. SRY gene 
    ... Sinclair A. SOX Genes and Their Role in Disorders of Sex Development. Sex Dev. 2022;16(2-3):80-91. ...
    https://medlineplus.gov/genetics/gene/sry - Genetics