Aromatase deficiency
Synonyms: Congenital estrogen deficiency
A rare disorder that 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Aromatase deficiency?
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Advocacy Organizations
3G SARL
Our mission is to design and/or implement information and communication technology solutions in the healthcare field.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.