{"orpha":785,"name":"Estrogen resistance syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-785/","orphanet_url":"https://www.orpha.net/en/disease/detail/785","names":{"fr":{"name":"Syndrome de résistance aux récepteurs des oestrogènes","definition":"Le syndrome de résistance aux récepteurs des oestrogènes est une maladie génétique endocrinienne rare caractérisée par une insensibilité des récepteurs de l'oestrogène vis-à-vis de leur substrat, et par la présence de taux sériques élevés d'oestrogènes et de gonadotrophines. Les signes cliniques incluent une absence de développement mammaire et une aménorrhée primaire, associées à des ovaires polykystiques et/ou un utérus hypoplasique chez les femmes, un développement gonadique normal ou anormal chez les hommes, ainsi qu'un retard prononcé de la maturation osseuse, des épiphyses ouvertes persistantes, une densité minérale osseuse réduite et une taille variable pour les deux sexes. Une intolérance au glucose, une hyperinsulinémie et des anomalies lipidiques peuvent aussi être rencontrées."},"de":{"name":"Östrogen-Resistenz-Syndrom","definition":"Das Östrogen-Resistenz-Syndrom ist eine seltene, genetisch bedingte endokrine Erkrankung, die durch eine Östrogenrezeptor-Unempfindlichkeit gegenüber Östrogenen und das Vorhandensein erhöhter Östrogen- und Gonadotropin-Serumspiegel gekennzeichnet ist. Zu den klinischen Manifestationen gehören fehlende Brustentwicklung und primäre Amenorrhoe in Verbindung mit multizystischen Ovarien und/oder hypoplastischem Uterus bei weiblichen Patienten, normale oder abnormale Gonadenentwicklung bei männlichen Patienten und deutlich verzögerte Knochenreifung, Persistenz offener Epiphysen, reduzierte Knochenmineraldichte und variable Hochwüchsigkeit bei beiden Geschlechtern. Glukoseintoleranz, Hyperinsulinämie und Lipidanomalien können ebenfalls vorhanden sein."},"es":{"name":"Síndrome de resistencia a estrógenos","definition":"El síndrome de resistencia a los estrógenos es una enfermedad endocrina genética poco frecuente caracterizada por la insensibilidad del receptor de estrógenos a los estrógenos y la presencia de niveles séricos elevados de estrógenos y gonadotropinas. Las manifestaciones clínicas incluyen ausencia de desarrollo mamario y amenorrea primaria en asociación con ovarios poliquísticos y/o útero hipoplásico en mujeres, desarrollo gonadal normal o anormal en varones y maduración ósea marcadamente tardía, persistencia de epífisis abiertas, densidad mineral ósea reducida y estatura alta variable en ambos sexos. También puede asociarse a intolerancia a la glucosa, hiperinsulinemia y anomalías lipídicas."},"it":{"name":"Sindrome da resistenza agli estrogeni","definition":"La sindrome da resistenza agli estrogeni è una malattia endocrina genetica rara, caratterizzata da assenza di sensibilità al recettore degli estrogeni agli estrogeni e da livelli elevati di estrogeni e gonadotropine nel siero. I segni clinici comprendono il mancato sviluppo delle mammelle e l'amenorrea primaria, associate a ovaie policistiche e/o ipoplasia dell'utero nelle femmine e a sviluppo gonadico normale o anomalo nei maschi, significativo ritardo della maturazione ossea, persistenza dell'apertura delle epifisi, riduzione della densità minerale ossea e variabile aumento della statura in entrambi i sessi. Possono associarsi intolleranza al glucosio, iperinsulinemia e anomalie lipidiche."},"nl":{"name":"Oestrogeenresistentiesyndroom","definition":"Oestrogeenresistentiesyndroom is een zeldzame, genetische endocriene ziekte die gekarakteriseerd wordt door insensitiviteit van de oestrogeenreceptor voor oestrogenen en de aanwezigheid van verhoogde gehaltes van oestrogeen en gonadotropine in het serum. Klinische manifestaties zijn onder meer afwezigheid van de borstontwikkeling en primaire amenorroe in associatie met multicystische ovaria en/of hypoplastische uterus bij vrouwelijke patiënten, normale of abnormale ontwikkeling van gonaden bij mannelijke patiënten, en duidelijk vertraagde botmaturatie, persisterende open epifyses, verminderde botmineraaldichtheid, en variabele grote gestalte bij beide geslachten. Glucose-intolerantie, hyperinsulinemie en abnormale lipidewaarden kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome resistência aos estrogéneos"},"pl":{"name":"Zespół niewrażliwości na estrogeny"},"cs":{"name":"Syndrom rezistence na estrogen"},"uk":{"name":"Синдром резистентності до естрогенів","definition":"Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present."},"zh":{"name":"雌激素抵抗综合征"},"tr":{"name":"Östrojen direnci sendromu"}},"xrefs":[{"source":"OMIM","code":"615363","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A90","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1267163286"},{"source":"MONDO","code":"0014148","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":180208,"name":"Anomaly of puberty or/and menstrual cycle","classifications":[205]},{"orpha":202940,"name":"Anomaly of puberty or/and menstrual cycle of genetic origin","classifications":[156]},{"orpha":97978,"name":"Rare endocrine disease","classifications":[193]},{"orpha":399831,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"orpha":400011,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin","classifications":[156]},{"orpha":156638,"name":"Rare genetic endocrine disease","classifications":[156]}],"children":[],"genes":[{"symbol":"ESR1","name":"estrogen receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"8090165[PMID]_23841731[PMID]","hgnc":"3467","ensembl":"ENSG00000091831","omim":"133430","loci":["6q25.1-q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8090165[PMID]_23841731[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8090165[PMID]_23841731[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-23","source":"27754803[PMID]_24152274[PMID]_8090165[PMID]_9396482[PMID]","terms":[{"hpo":"HP:0003117","label":"Abnormality of circulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008197","label":"Absence of pubertal development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000013","label":"Hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003799","label":"Marked delay in bone age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010679","label":"Elevated tissue non-specific alkaline phosphatase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030087","label":"Abnormal testosterone level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0100133","label":"Abnormality of the pubic hair","frequency":"Excluded (0%)","criteria":null}]}}