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Results 1 - 10 of 22 for "46,XX" disorder of sex development
  1. 46,XX testicular difference of sex development 
    ... 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
  2. Aromatase deficiency 
    ... not show 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
  3. X chromosome 
    ... Citation on PubMed Delot EC, Vilain EJ. Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development. 2003 Oct 30 [updated 2022 May 26]. In: ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  4. SRY gene 
    ... Citation on PubMed Delot EC, Vilain EJ. Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development. 2003 Oct 30 [updated 2022 May 26]. In: ...
    https://medlineplus.gov/genetics/gene/sry - Genetics
  5. NR5A1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about 46,XX testicular difference of sex development More About This Health Condition NR5A1 gene variants have been identified in people with 46,XY disorder of sex development, also known as partial gonadal ...
    https://medlineplus.gov/genetics/gene/nr5a1 - Genetics
  6. Swyer syndrome 
    ... pure gonadal dysgenesis Genetic Testing Registry: 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis Genetic Testing ... 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
  7. 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
  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. Y chromosome 
    ... copies of y chromosome. In most individuals with 46,XX testicular difference of sex development, the condition results from an abnormal exchange of ... person's father. In the translocation that causes 46,XX testicular difference of sex development, the SRY gene, which is normally found on ...
    https://medlineplus.gov/genetics/chromosome/y - Genetics
  10. SOX9 gene 
    ... This Health Condition MedlinePlus Genetics provides information about 46,XX testicular difference of sex development More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/sox9 - Genetics
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