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
5É‘ 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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