{"orpha":2235,"name":"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Chang-Davidson-Carlson syndrome"],"definition":"A rare endocrine disease characterized by hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Patients have decreased axillary and pubic hair growth, hypoplastic external genitalia, and small uterus and ovaries. No additional physical development abnormalities or intellectual deficiency are reported. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2235/","orphanet_url":"https://www.orpha.net/en/disease/detail/2235","names":{"fr":{"name":"Syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire","synonyms":["Syndrome de Chang-Davidson-Carlson"],"definition":"Maladie endocrinienne rare caractérisée par un hypogonadisme hypogonadotrope (avec aménorrhée primaire et absence de développement sexuel secondaire) et une rétinite pigmentaire. Les patients présentent une faible pilosité axillaire et pubienne, une hypoplasie d'organes génitaux externes, un utérus et des ovaires de petite taille. Aucune autre anomalie du développement physique ni déficience intellectuelle n'est décrite. Aucun nouveau cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Hypogonadotroper Hypogonadismus-Retinitis pigmentosa-Syndrom","synonyms":["Chang-Davidson-Carlson-Syndrom"],"definition":"Eine seltene endokrine Störung, die durch hypogonadotropen Hypogonadismus (mit primärer Amenorrhoe und fehlender sekundärer sexueller Entwicklung) und Retinitis pigmentosa gekennzeichnet ist. Die Patienten zeigen einen verminderten Achsel- und Schamhaarwuchs, hypoplastische äußere Genitalien sowie einen kleinen Uterus und kleine Eierstöcke. Es werden keine weiteren Anomalien der körperlichen Entwicklung oder intellektuelle Defizite berichtet. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipogonadismo hipogonadotrópico-retinosis pigmentaria","definition":"Es una enfermedad endocrina poco frecuente caracterizada por hipogonadismo hipogonadotrópico (con amenorrea primaria y ausencia de desarrollo sexual secundario) y retinosis pigmentaria. Los pacientes presentan disminución del crecimiento del vello axilar y púbico, hipoplasis de los genitales externos y útero y ovarios pequeños. No se han descrito otras anomalías del desarrollo físico ni deficiencia intelectual. No se han publicado más casos en la literatura desde 1981."},"it":{"name":"Ipogonadismo ipogonadotropo - retinite pigmentosa","synonyms":["Sindrome di Chang-Davidson-Carlson"]},"nl":{"name":"Hypogonadotroop hypogonadisme - retinitis pigmentosa-syndroom","synonyms":["Syndroom van Chang-Davidson-Carlson"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door hypogonadotroop hypogonadisme (met primaire amenorroe en gebrek aan secundaire seksuele ontwikkeling) en retinitis pigmentosa. Patiënten vertonen verminderde groei van oksel- en schaamhaar, hypoplastische uitwendige geslachtsorganen, en kleine baarmoeder en eierstokken. Er werden geen bijkomende afwijkingen van de lichamelijke ontwikkeling of intellectuele deficiëntie gerapporteerd. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipogonadismo hipogonadotrópico-retinite pigmentosa","synonyms":["Síndrome Chang-Davidson-Carlson"],"definition":"Doença endócrina rara caracterizada por hipogonadismo hipogonadotrópico (com amenorreia primária e ausência de desenvolvimento sexual secundário) e retinite pigmentosa. Os doentes apresentam diminuição do crescimento de pelos axilares e púbicos, genitais externos hipoplásicos e útero e ovários pequenos. Não foram descritas outras anomalias no desenvolvimento físico ou perturbação do desenvolvimento intelectual. Não existem descrições adicionais na literatura desde 1981."},"pl":{"name":"Hipogonadyzm hipogonadotropowy - zwyrodnienie barwnikowe siatkówki","synonyms":["Zespół Changa, Davidsona i Carlsona"]},"cs":{"name":"Syndrom zahrnující hypogonadotropní hypogonadismus a retinitis pigmentosa","synonyms":["Changův-Davidsonův-Carlsonův syndrom","Chang-Davidson-Carlsonův syndrom"]},"uk":{"name":"Синдром гіпогонадотропного гіпогонадизму - пігментної дегенерації сітківки","synonyms":["Синдром Чанга-Девідсона-Карлсона"],"definition":"A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa."},"zh":{"name":"低促性腺激素性性腺功能减退-视网膜色素变性综合症","synonyms":["Chang-Davidson-Carlson综合症"]},"tr":{"name":"Hipogonadotropik hipogonadizm-retinitis pigmentosa sendromu","synonyms":["Chang-Davidson-Carlson sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"MONDO","code":"0016386","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538075","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6795223[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6795223[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-01","source":"6795223[PMID]","terms":[{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","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:0008724","label":"Hypoplasia of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003164","label":"Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008202","label":"Reduced circulating prolactin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}