{"orpha":178345,"name":"Aromatase excess syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AEXS","Familial hyperestrogenism","Hereditary prepubertal gynecomastia"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178345/","orphanet_url":"https://www.orpha.net/en/disease/detail/178345","names":{"fr":{"name":"Syndrome d'excès d'aromatase","synonyms":["AEXS","Gynécomastie prépubertaire héréditaire"],"definition":"Une maladie génétique endocrine rare caractérisée par des taux accrus d'oestrogènes dus à une activité élevée de l'aromatase extra-glandulaire. Les patients masculins présentent une puberté hétérosexuelle précoce qui se manifeste par une gynécomastie pré- ou péripubertaire, une poussée de croissance prématurée et une maturation osseuse accélérée conduisant à une diminution de la taille adulte. Ils peuvent aussi présenter un léger hypogonadisme hypogonadotrope. Les patientes peuvent développer une puberté isosexuelle précoce, ou être totalement asymptomatiques."},"de":{"name":"Aromatase-Exzess-Syndrom","synonyms":["AEXS","Hyperöstrogenismus, familiärer","Präpubertäre Gynäkomastie, hereditäre"],"definition":"Eine seltene, genetisch bedingte endokrine Erkrankung, die durch erhöhte Östrogenspiegel aufgrund einer erhöhten extraglandulären Aromataseaktivität gekennzeichnet ist. Bei Männern tritt eine heterosexuelle frühe Pubertät auf, die sich durch eine prä- oder peripubertäre Gynäkomastie, einen vorzeitigen Wachstumsschub, eine beschleunigte Knochenreifung, die zu einer verminderten Erwachsenenstatur führt, sowie durch einen leichten hypogonadotropen Hypogonadismus manifestiert. Weibliche Patienten können eine isosexuelle Frühpubertät haben oder überhaupt keine Manifestationen aufweisen."},"es":{"name":"Síndrome de exceso de aromatasa","synonyms":["AEXS","Ginecomastia prepuberal hereditaria","Hiperestrogenismo familiar"],"definition":"Es una enfermedad endocrina genética poco frecuente caracterizada por niveles elevados de estrógenos debido a la elevada actividad de la aromatasa extraglandular. Los varones presentan una pubertad heterosexual precoz que se manifiesta con ginecomastia de inicio pre- o peripuberal, brotes de crecimiento prematuro, maduración ósea acelerada que resulta en talla adulta baja y, ocasionalmente, hipogonadismo hipogonadotrópico leve. Los individuos de sexo femenino pueden experimentar pubertad precoz isosexual o no tener ninguna manifestación."},"it":{"name":"Sindrome da eccesso di aromatasi","definition":"La sindrome da eccesso di aromatasi è una malattia rara, genetica, endocrina, caratterizzata da un aumento dei livelli degli estrogeni, secondario a un'elevata attività dell'aromatasi extra-ghiandolare. I maschi presentano pubertà eterosessuale precoce, che si manifesta con ginecomastia ad esordio pre- o peri-puberale, prematuro scatto della crescita, accelerazione della maturazione ossea, che esita in una riduzione della statura nell'età adulta, e, occasionalmente, lieve ipogonadismo ipogonadotropo. Le femmine presentano pubertà isosessuale precoce, oppure non mostrano nessun segno clinico."},"nl":{"name":"Syndroom van overmaat aan aromatase","synonyms":["AEXS","Erfelijke prepuberale gynaecomastie","Familiaal hyperoestrogenisme"],"definition":"Een zeldzame, genetische, endocriene ziekte, gekarakteriseerd door verhoogde estrogeengehaltes als gevolg van verhoogde activiteit van extraglandulair aromatase. Mannen vertonen heteroseksuele vroegtijdige puberteit die zich manifesteert met pre- of peripuberale aanvang van gynaecomastie, premature groeispurt, versnelde botmaturatie die leidt tot een kleinere volwassen gestalte, en mogelijk mild hypogonadotroop hypogonadisme. Vrouwelijke patiënten vertonen mogelijk isoseksuele vroegtijdige puberteit of helemaal geen manifestaties."},"pt":{"name":"Síndrome de excesso de aromatase"},"pl":{"name":"Zespół nadmiaru aromatazy","synonyms":["AEXS","Dziedziczna ginekomastia przed pokwitaniem","Rodzinny hiperestrogenizm"]},"cs":{"name":"Syndrom nadbytku aromatázy","synonyms":["AEXS","Familiární hyperestrogenismus","Hereditární prepubertální gynekomastie"]},"uk":{"name":"Синдром надлишку ароматази","synonyms":["AEXS","Сімейна гіперестрогенія","Спадкова препубертатна гінекомастія"],"definition":"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."},"zh":{"name":"芳香化酶过多综合征","synonyms":["遗传性青春期前男性乳腺发育"],"definition":"芳香化酶过多综合征是一种罕见的遗传性内分泌疾病，其主要临床表现为由于腺外芳香化酶活性升高所致的雌激素水平升高。男性患者表现为女性化性早熟，具体表现为男性青春期前或青春期出现乳房发育，生长发育提早，骨骼成熟加速，导致成人期身材矮小，并可能出现轻度性腺功能减退症。女性患者可出现性早熟或无临床症状。"},"tr":{"name":"Aromataz fazlalığı sendromu","synonyms":["AEXS","Ailesel hiperöstrojenizm","Kalıtsal prepubertal jinekomasti"]}},"xrefs":[{"source":"OMIM","code":"139300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E30.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A92","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"191989744"},{"source":"MONDO","code":"0007690","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000591739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970109","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12494","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":435564,"name":"Genetic precocious puberty in female","classifications":[156]},{"orpha":178040,"name":"Rare peripheral precocious puberty","classifications":[156,193]},{"orpha":650187,"name":"Rare peripheral precocious puberty in female","classifications":[205]}],"children":[],"genes":[{"symbol":"CYP19A1","name":"cytochrome P450 family 19 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21470988[PMID]_22319526[PMID]_24064691[PMID]","hgnc":"2594","ensembl":"ENSG00000137869","omim":"107910","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"24716396[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24716396[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-11-26","source":"34538723[PMID]_22024975[PMID]_34538723[PMID]_33513243[PMID]","terms":[{"hpo":"HP:0034699","label":"Elevated aromatase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025139","label":"Increased serum estrone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030341","label":"Decreased circulating follicle stimulating hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025134","label":"Increased serum estradiol","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007464","label":"Sparse facial hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010313","label":"Breast hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100878","label":"Enlarged uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003502","label":"Mild short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010465","label":"Precocious puberty in females","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010314","label":"Premature thelarche","frequency":"Occasional (29-5%)","criteria":null}]}}