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Results 1 - 10 of 28 for Ambiguous genitalia
  1. 46,XX testicular difference of sex development 
    ... and symptoms of the condition. 46,XX testicular disorder of sex development 46,XX testicular DSD nonsyndromic 46,XX testicular ... male syndrome Genetic Testing Registry: 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development National ...
    https://medlineplus.gov/...-testicular-difference-of-sex-development - Genetics
  2. X-linked lissencephaly with abnormal genitalia 
    ... X-linked lissencephaly 2 X-linked lissencephaly with ambiguous genitalia XLAG XLISG Genetic Testing Registry: X-linked lissencephaly ... X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. ...
    https://medlineplus.gov/...ked-lissencephaly-with-abnormal-genitalia - Genetics
  3. Leydig cell hypoplasia 
    ... 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
  4. Aromatase deficiency 
    ... signs and symptoms of the condition. 46,XX disorder of sex development (DSD) due to placental aromatase deficiency Estrogen synthetase ...
    https://medlineplus.gov/genetics/condition/aromatase-deficiency - Genetics
  5. Androgen insensitivity syndrome 
    Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition have one X chromosome ...
    https://medlineplus.gov/.../androgen-insensitivity-syndrome - Genetics
  6. Cytochrome P450 oxidoreductase deficiency 
    Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  7. 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
  8. 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
  9. 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
  10. 5-alpha reductase deficiency 
    ... 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
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