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Disorders of Sex Development

Brief comparison of four different disorders of sex development.


Mullein agenesis (a.k.a., vaginal agenesis)

Karyotype: 46 XX

Reproductive organs: normal lower vagina & ovaries, but may only have a rudimentary uterus & upper vagina

Thelarche: Breast development occurs

Adrenarche: Body hair is grown at puberty

Androgen insensitivity syndrome

Karyotype: 46 XY

Reproductive organs: Normal lower vagina, but not an upper vagina or uterus. As well, there is cryptorchidism.

Thelarche: Occurs at puberty

Adrenarche: No axillary and pubic hair growth


Complete XY gonadal agenesis

Karyotype: 46 XY

Reproductive organs: develop a uterus and external female genitalia, but with streak gonads

Thelarche: Does not occur

Adrenarche: Pubic hair develops during puberty

5ɑ reductase deficiency

Karyotype: 46 XY

Reproductive organs: Male internal urogenital organs without a uterus or ovaries. External genitalia at birth may be either female or ambiguous.

Thelarche: Does not occur

Adrenarche: Occurs


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