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Results: 3

1.

46,XY gonadal dysgenesis, partial, with minifascicular neuropathy

46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis (46,XY CGD) is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures. [from GeneReviews]

MedGen UID:
442702
Concept ID:
C2751325
Disease or Syndrome
2.

46,XY sex reversal, type 1

46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis (46,XY CGD) is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures. [from GeneReviews]

MedGen UID:
412662
Concept ID:
C2748896
Disease or Syndrome
3.

46,XY sex reversal, type 7

46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias with or without chordee, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to presence of a fully developed uterus and fallopian tubes. 46,XY complete gonadal dysgenesis (46,XY CGD) is characterized by a 46,XY karyotype, normal female external genitalia, completely undeveloped (”streak”) gonads, no sperm production, and presence of normal müllerian structures. [from GeneReviews]

MedGen UID:
383876
Concept ID:
C1856273
Disease or Syndrome

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