{"orpha":52901,"name":"Isolated follicle stimulating hormone deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated FSH deficiency"],"definition":"A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52901/","orphanet_url":"https://www.orpha.net/en/disease/detail/52901","names":{"fr":{"name":"Déficit isolé en hormone folliculo-stimulante","synonyms":["Déficit isolé en FSH"],"definition":"Hypogonadisme hypogonadotrope congénital rare, caractérisé par un hypogonadisme dû à un déficit en hormone folliculo-stimulante. Chez la femme, les manifestations cliniques sont une aménorrhée primaire, une absence ou un développement mammaire incomplet et une infertilité ; chez l'homme, on observe des testicules de petite taille, une azoospermie et une infertilité. Au test de stimulation à la GnRH (hormone de libération des gonadotrophines), les taux d'hormone lutéinisante sont élevés, alors que les taux de FHS en réponse à la GnRH sont anormaux."},"de":{"name":"Follicle-Stimulating Hormone (FSH)-Mangel, isolierter","synonyms":["Follikelstimulierendes-Hormon-Mangel, isolierter"],"definition":"Ein seltene endokrine Störung mit mit kongenitalem hypogonadotropen Hypogonadismus, verursacht durch einen selektiven Mangel an follikelstimulierendem Hormon (FSH). Klinische Manifestationen sind primäre Amenorrhoe, fehlende oder unvollständige Brustentwicklung und Infertilität bei Frauen sowie kleine Hoden, Azoospermie und Infertilität bei Männern. Das luteinisierende Hormon ist im Gonadotropin-Releasing-Hormon-Stimulationstest erhöht, während das Ansprechen auf FSH vermindert ist."},"es":{"name":"Deficiencia aislada de hormona folículo-estimulante","definition":"Es un hipogonadismo hipogonadotrópico congénito poco frecuente caracterizado por hipogonadismo debido a una deficiencia selectiva de la hormona folículo estimulante (FSH). Las manifestaciones clínicas son amenorrea primaria, desarrollo mamario ausente o incompleto e infertilidad en las mujeres, y testículos pequeños, azoospermia e infertilidad en los varones. La hormona luteinizante está elevada en la prueba de estimulación de la hormona liberadora de gonadotropina, mientras que la respuesta de la FSH está alterada."},"it":{"name":"Deficit isolato dell'ormone follicolo-stimolante (FSH)","definition":"Si tratta di un ipogonadismo ipogonadotropo congenito raro, caratterizzato da ipogonadismo secondario a un deficit selettivo dell'ormone follicolo-stimolante (FSH). I segni clinici comprendono l'amenorrea primaria, l'agenesia o l'iposviluppo delle mammelle e l'infertilità (nelle donne), e i testicoli ipoplastici, l'azoospermia e l'infertilità negli uomini. Al test di stimolazione dell'ormone di rilascio delle gonadotropine i livelli dell'ormone luteinizzante sono elevati, mentre la risposta del FSH è alterata."},"nl":{"name":"Geïsoleerde deficiëntie van follikelstimulerend hormoon","synonyms":["Geïsoleerde FSH-deficiëntie"],"definition":"Een zeldzaam congenitaal hypogonadotroop hypogonadisme, gekenmerkt door hypogonadisme als gevolg van selectieve deficiëntie van follikelstimulerend hormoon (FSH). Klinische manifestaties zijn primaire amenorroe, afwezige of onvolledige borstontwikkeling, en onvruchtbaarheid bij vrouwen, en kleine testikels, azoöspermie, en onvruchtbaarheid bij mannen. Luteïniserend hormoon is verhoogd bij de gonadotropine-'releasing' hormoon stimulatietest, terwijl de FSH-respons verstoord is."},"pt":{"name":"Deficiência de hormona foliculo-estimulante isolada"},"pl":{"name":"Izolowany Niedobór hormonów stymulujących pęcherzyki","synonyms":["Izolowany Niedobór FSH"]},"cs":{"name":"Izolovaný deficit folikulostimulačního hormonu","synonyms":["Izolovaný deficit FSH"]},"uk":{"name":"Ізольований дефіцит фолікулостимулюючого гормону","synonyms":["Ізольований дефіцит ФСГ"],"definition":"A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired."},"zh":{"name":"孤立型促卵泡激素缺乏症","synonyms":["孤立型FSH缺乏症"]},"tr":{"name":"İzole folikül uyarıcı hormon eksikliği","synonyms":["İzole FSH eksikliği"]}},"xrefs":[{"source":"OMIM","code":"229070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1431378723"},{"source":"MONDO","code":"0009239","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9239","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856716","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10128","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":174590,"name":"Congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":400011,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"FSHB","name":"follicle stimulating hormone subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15705395[PMID]","hgnc":"3964","ensembl":"ENSG00000131808","omim":"136530","loci":["11p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-04","source":"4344039[PMID]_9280841[PMID]_8220432[PMID]_9271483[PMID]_11041762[PMID]_19966036[PMID]_15705395[PMID]_1092710[PMID]_90239[PMID]","terms":[{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008213","label":"Gonadotropin deficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012864","label":"Abnormal sperm morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012814","label":"Bilateral breast hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010791","label":"Hyperplasia of the Leydig cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000029","label":"Testicular atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Excluded (0%)","criteria":null}]}}