{"orpha":91348,"name":"Functioning gonadotropic adenoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Functioning pituitary gonadotropic adenoma","Gonadotroph adenoma"],"definition":"Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91348/","orphanet_url":"https://www.orpha.net/en/disease/detail/91348","names":{"fr":{"name":"Adénome gonadotrope fonctionnel","synonyms":["Adénome gonadotrope hypophysaire fonctionnel"],"definition":"Une tumeur pituitaire très rare, caractérisée sur le plan macroscopique par un adénome mou, bien vascularisé, de taille variable, avec des zones occasionnelles d'hémorragie ou de nécrose, et sécrétant des gonadotrophines actives biologiquement. En dehors des signes neurologiques fréquents causés par l'effet de masse (céphalée et/ou atteinte du champ visuel), les manifestations cliniques additionnelles incluent des troubles menstruels (aménorrhée secondaire, oligoménorrhée ou ménorragie sévère), une galactorrhée, une infertilité ou un syndrome d'hyperstimulation ovarienne (chez les femmes préménopausées), un élargissement testiculaire et, de manière occasionnelle, un hypogonadisme (chez les hommes) et une puberté précoce isosexuelle (chez les enfants)."},"de":{"name":"Adenom, funktionelles gonadotropes","synonyms":["Adenom, hypophysäres, funktionelles gonadotropes","Gonadotropes Adenom","Hypophysenadenom, gonadotropes"],"definition":"Das funktionelle gonadotrope Adenom ist ein sehr seltener Hypophysentumor, der makroskopisch durch ein weiches, gut vaskularisiertes Adenom variabler Größe mit gelegentlichen Hämorrhagien oder Nekrosen gekennzeichnet ist, das biologisch aktive Gonadotropine sezerniert. Neben den üblichen neurologischen Symptomen aufgrund des Masseneffekts (Kopfschmerzen und/oder Gesichtsfeldverschlechterung) können weitere klinische Manifestationen assoziiert sein: Menstruationsunregelmäßigkeiten (sekundäre Amenorrhoe, Oligomenorrhoe oder schwere Menorrhagie), Galaktorrhoe, Infertilität oder ovarielles Hyperstimulationssyndrom (bei prämenopausalen Frauen), Hodenvergrößerung und gelegentlich Hypogonadismus (bei Männern) sowie isosexuelle vorzeitige Pubertät."},"es":{"name":"Adenoma gonadotrópico funcionante","synonyms":["Adenoma gonadotropo","Adenoma hipofisario gonadotrópico funcionante","Adenoma hipofisario gonadotrópico secretor"],"definition":"Es un tumor hipofisario muy poco frecuente, caracterizado macroscópicamente por un adenoma blando, bien vascularizado, de tamaño variable, con áreas ocasionales de hemorragia o necrosis, que secreta gonadotropinas biológicamente activas. Además de los signos neurológicos comunes debido al efecto de masa (dolor de cabeza y/o deterioro del campo visual), las manifestaciones clínicas adicionales incluyen irregularidades menstruales (amenorrea secundaria, oligomenorrea o menorragia grave), galactorrea, infertilidad o síndrome de hiperestimulación ovárica (en mujeres premenopáusicas), aumento de tamaño testicular y, ocasionalmente, hipogonadismo (en hombres) y pubertad precoz isosexual (en niños)."},"it":{"name":"Adenoma gonadotropo funzionante","synonyms":["Adenoma gonadotropo ipofisario funzionante"],"definition":"L'adenoma gonadotropo funzionante è un tumore molto raro dell'ipofisi. Dal punto di vista macroscopico, è caratterizzato da un adenoma molle, ben vascolarizzato, di dimensioni variabili, con poche aree emorragiche o necrotiche, che secerne gonadotropine biologicamente attive. Esordisce con segni neurologici comuni secondari alla presenza della massa (cefalea e/o deterioramento del campo visivo) e può associarsi ad altri segni clinici, come l'irregolarità del ciclo mestruale (amenorrea secondaria, oligomenorrea o menorragia grave), la galattorrea, l'infertilità o la sindrome da iperstimolazione ovarica (nelle donne in premenopausa), l'ingrossamento dei testicoli e, di rado, l'ipogonadismo (nei maschi) e la pubertà precoce isosessuale (nei bambini)."},"nl":{"name":"Functioneel gonadotroop adenoom","synonyms":["Functioneel hypofysair gonadotroop adenoom","Gonadotroop adenoom"],"definition":"Functionerend gonadotroop adenoom is een zeer zeldzame hypofysetumor, en wordt macroscopisch gekarakteriseerd door een zacht, goed gevasculariseerd adenoom met een variabele omvang, en occasioneel met gebieden van hemorragie of necrose, die biologisch actieve gonadotropinen afscheidt. Bovenop de gebruikelijke neurologische tekenen te wijten aan het massa-effect (hoofdpijn en/of aantasting van het gezichtsveld), omvatten bijkomende klinische manifestaties onder meer menstruele onregelmatigheden (secondaire amenorroe, oligomenorroe of ernstige menorragie), galactorroe, onvruchtbaarheid of ovariële hyperstimulatie-syndroom (bij premenopauzale vrouwen), vergroting van testikels, en, occasioneel, hypogonadisme (bij mannen) en isoseksuele vroegtijdige puberteit (bij kinderen)."},"pt":{"name":"Adenoma gonadotrópico funcionante","synonyms":["Adenoma gonadotrópico","Adenoma gonadotrópico hipofisário funcionante"]},"pl":{"name":"Czynny gruczolak gonadotropowy","synonyms":["Czynny gonadotropowy gruczolak przysadki"]},"cs":{"name":"Hormonálně aktivní/funkční gonadotropní adenom","synonyms":["Hormonálně aktivní/funkční gonadotropní adenom hypofýzy"]},"uk":{"name":"Функціонуюча гонадотропна аденома","synonyms":["Функціонуюча гонадотропна аденома гіпофіза","Гонадотрофна аденома"],"definition":"Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children)."},"zh":{"name":"功能性促性腺腺瘤","synonyms":["功能性垂体促性腺腺瘤"]},"tr":{"name":"İşlevsel gonadotropik adenom","synonyms":["Gonadotrop adenom","İşleyen hipofiz gonadotropik adenomu"]}},"xrefs":[{"source":"ICD-10","code":"D35.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F37.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019612","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":314753,"name":"Functioning pituitary adenoma","classifications":[193,202]},{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-25","source":"8656706[PMID]_25166722[PMID]_26072284[PMID]_9768644[PMID]_767353[PMID]_11502789[PMID]_2991325[PMID]_402377[PMID]_334787[PMID]_21196695[PMID]_20960265[PMID]_2627747[PMID]","terms":[{"hpo":"HP:0011759","label":"Pituitary gonadotropic cell adenoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040086","label":"Abnormal prolactin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009888","label":"Abnormality of secondary sexual hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100829","label":"Galactorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008236","label":"Isosexual precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002050","label":"Macroorchidism, postpubertal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000138","label":"Ovarian cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}