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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0007690/OMIM:139300","MONDO:0007690/ORPHA:178345"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. 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Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome.","mondoId":"MONDO:0007690","records":[{"frequencyKind":"range","key":"00e11a8da4562512f50669b46549df900d0a7038b6883b7e1acd7604305a813b","raw":{"aspect":"P","body_system":"breast","disease_id":"ORPHA:178345","disease_name":"Aromatase excess syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010313","is_excluded":false,"label":"Breast hypertrophy","onset_id":null,"reference":"ORPHA:178345","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"019567ca21f694df68da2028f6d04256ee85bf7ebb98235976e7ba63b58f3f99","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:178345","disease_name":"Aromatase excess syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010465","is_excluded":false,"label":"Precocious puberty in 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth.</p><p>The condition can result from several types of genetic rearrangements involving the CYP19A1 gene. These rearrangements alter the activity of the gene and lead to an increase in aromatase production. In affected males, the increased aromatase and subsequent conversion of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess syndrome. Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Aromatase excess syndrome?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"aromatase-excess-syndrome","sourceDocuments":[{"name":"Aromatase excess syndrome","reviewed":"2014-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:29.423343+00:00","label":"Causes","pageSha256":"62a00a1578b59be484105b4b2a4c20722c780f634c97e6ac325be676ffb8c688","sourceUrl":"https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Aromatase excess syndrome"},"schemaVersion":1}