Chromosomes Genetic mutation Syndrome Internal reproductive anatomy External genitalia Secondary sex characteristics Sex typically assigned at birth Barr body (Y/N) SRY gene (Y/N) Testosterone (Low/High) Menstruation (Y/N) Fertile (Y/N) 46,XX None None Female Female Female Female YES NO Low YES YES 46,XX CYP21A2 mutation or deletion Congenital adrenal hyperplasia Female Ambiguous Male but reduced Female 46,XY SRY mutation or deletion Swyer syndrome Female but nonfunctional ovaries Female Absent or female, but reduced Female 45,X Complete or partial loss of X chromosome Turner syndrome Female but absent or nonfunctional ovaries Female Absent or female, but reduced Female 46,XY Androgen receptor (AR) deletion Complete androgen insensitivity syndrome Shortened vaginal canal and testes, no fallopian tubes or uterus. Female Female Female 47,XXY Extra X chromosome Klinefelter syndrome Male Male Male but reduced. Breast growth may occur Male 46,XX SRY gene translocation to X XX male syndrome Male Male but small testes Male but reduced Male 46,XY SRD5A2 mutation or deletion 5-alpha reductase deficiency Male Female or ambiguous Male Female No 46,XY Mutation or deletion of the genes for AMH or AMH receptor (AMHR2) Persistent Müllerian duct syndrome Male reproductive organs plus uterus and fallopian tubes Male, but one or both testes may be undescended Male Male No 46,XY None None Male Male genitalia Male Male
|
Chromosomes |
Genetic mutation |
Syndrome |
Internal reproductive anatomy |
External genitalia |
Secondary sex characteristics |
Sex typically assigned at birth |
Barr body (Y/N) |
SRY gene (Y/N) |
Testosterone (Low/High) |
Menstruation (Y/N) |
Fertile (Y/N) |
|
46,XX |
None |
None |
Female |
Female |
Female |
Female |
YES |
NO |
Low |
YES |
YES |
|
46,XX |
CYP21A2 mutation or deletion |
Congenital adrenal hyperplasia |
Female |
Ambiguous |
Male but reduced |
Female |
|
|
|
|
|
|
46,XY |
SRY mutation or deletion |
Swyer syndrome |
Female but nonfunctional ovaries |
Female |
Absent or female, but reduced |
Female |
|
|
|
|
|
|
45,X |
Complete or partial loss of X chromosome |
Turner syndrome |
Female but absent or nonfunctional ovaries |
Female |
Absent or female, but reduced |
Female |
|
|
|
|
|
|
46,XY |
Androgen receptor (AR) deletion |
Complete androgen insensitivity syndrome |
Shortened vaginal canal and testes, no fallopian tubes or uterus. |
Female |
Female |
Female |
|
|
|
|
|
|
47,XXY |
Extra X chromosome |
Klinefelter syndrome |
Male |
Male |
Male but reduced. Breast growth may occur |
Male |
|
|
|
|
|
|
46,XX |
SRY gene translocation to X |
XX male syndrome |
Male |
Male but small testes |
Male but reduced |
Male |
|
|
|
|
|
|
46,XY |
SRD5A2 mutation or deletion |
5-alpha reductase deficiency |
Male |
Female or ambiguous |
Male |
Female |
|
|
|
|
No |
|
46,XY |
Mutation or deletion of the genes for AMH or AMH receptor (AMHR2) |
Persistent Müllerian duct syndrome |
Male reproductive organs plus uterus and fallopian tubes |
Male, but one or both testes may be undescended |
Male |
Male |
|
|
|
|
No |
|
46,XY |
None |
None |
Male |
Male genitalia |
Male |
Male |
|
|
|
|
|
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