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Results 1 - 10 of 16 for "46,XY" disorder of sex development
  1. Leydig cell hypoplasia 
    ... ovulation, leading 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
  2. Swyer syndrome 
    ... XY XY pure gonadal dysgenesis Genetic Testing Registry: 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis Genetic Testing ... Vilain E. 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
  3. 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
  4. 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
  5. 46,XX testicular difference of sex development 
    ... separate regulatory regions 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
  6. Aromatase deficiency 
    ... signs and symptoms of the condition. 46,XX disorder of sex development (DSD) due to placental aromatase deficiency Estrogen synthetase deficiency Oestrogen synthetase deficiency Placental aromatase deficiency Genetic Testing Registry: Aromatase ... DEFICIENCY PubMed Baykan EK, Erdogan M, ...
    https://medlineplus.gov/genetics/condition/aromatase-deficiency - Genetics
  7. Persistent Müllerian duct syndrome 
    Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which ...
    https://medlineplus.gov/.../persistent-mullerian-duct-syndrome - Genetics
  8. Y chromosome infertility 
    ... have one X chromosome and one Y chromosome (46,XY).Many genes on the Y chromosome are involved in male sex determination and development. In particular, genes in areas of the Y ...
    https://medlineplus.gov/genetics/condition/y-chromosome-infertility - Genetics
  9. Klinefelter syndrome 
    ... Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 Apr;38(3):197-207. doi: 10.1097/DBP.0000000000000429. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/klinefelter-syndrome - Genetics
  10. 49,XXXXY syndrome 
    ... is sometimes described as a variation of another sex chromosome disorder called ... the development of sexual characteristics that are typical for males ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
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