Aromatase Deficiency

Aromatase 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.

Country

Italy

Related Organizations

University of Modena and Reggio Emilia
Italy

Keywords

Aromatase Deficiency; rare diseases; ORPHA91; E25.8; OMIM 613546; oestrogen deficiency / oestrogen resistance / aromatase deficiency / oestrogen insensitivity / oestrogen in men

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