Aromatase deficiency
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A 46,XX newborn presents with ambiguous genitalia (virilized female). The mother experienced progressive virilization during pregnancy (deepening voice, acne, hirsutism). At puberty, the patient fails to develop breasts and has primary amenorrhea with hypergonadotropic hypogonadism and tall stature.
AR; CYP19A1 (aromatase, which converts androgens to estrogens)
- Aromatase is the enzyme that converts testosterone → estradiol and androstenedione → estrone
- Loss of function = no estrogen production = androgen excess
- 46,XX DSD: virilized female genitalia at birth (excess androgens not converted to estrogens)
- Maternal virilization during pregnancy (fetal androgens cross placenta, a distinguishing clue)
- At puberty: absent breast development, primary amenorrhea
- Tall stature with delayed bone age (estrogen is needed for epiphyseal fusion)
- Hypergonadotropic hypogonadism (high FSH/LH, low estrogen)
- Multicystic ovaries
- In 46,XY males: tall stature, osteoporosis, delayed bone maturation
- Low estrogen with elevated testosterone and androstenedione
- Elevated FSH and LH
- CYP19A1 gene testing
- Maternal virilization history is a strong clue
- Estrogen replacement therapy (induces puberty, breast development, menses)
- Estrogen is critical for bone health (prevents osteoporosis and promotes epiphyseal fusion)
"No AROMAtase = No AROMA of femininity": without aromatase, androgens cannot be converted to estrogens, so feminization does not occur.
Mother + daughter both virilized: the only DSD where the mother is also affected during pregnancy (fetal androgens cross the placenta).