Aromatase excess syndrome
Synonyms: AEXS | Familial hyperestrogenism | Hereditary prepubertal gynecomastia
A rare genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia premature growth spurt accelerated bone maturation resulting in decreased adult stature and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.
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 excess syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Child Growth Foundation
Child Growth Foundation (CGF) makes a difference wherever growth is a concern. We are the leading UK charity focusing on the support, understanding and management of rare growth conditions to improve the lives of children, adults and families affected.
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.