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Aromatase deficiency
rareAromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
- Identifiers
- MONDO:0013301 OMIM:613546Orphanet:91
- Causal genes
- CYP19A1
- Also known as
- congenital estrogen deficiency · congenital oestrogen deficiency
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