{"orpha":315311,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic 21-OHD CAH, simple virilizing form"],"definition":"A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-315311/","orphanet_url":"https://www.orpha.net/en/disease/detail/315311","names":{"fr":{"name":"Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique virilisante","synonyms":["HCS classique virilisante par 21-OHD"],"definition":"Forme d'hyperplasie congénitale classique des surrénales due à un déficit en 21-hydroxylase, caractérisée par des anomalies de développement génital et des niveaux variables de virilisation chez les femmes, des organes génitaux normaux chez les hommes, en association avec une insuffisance en glucocorticoïdes sans perte de sel, une vitesse de croissance et une maturation osseuse accélérées, une adrénarche prématurée et une puberté précoce conduisant à une petite taille à l'âge adulte. Chez les femmes, un utérus normal et différents degrés d'anomalies vaginales sont observés."},"de":{"name":"Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form, einfach virilisierend","synonyms":["Klassische 21-OHD CAH, einfach virilisierend","Klassische kongenitale adrenale Hyperplasie durch 21-Hydroxylase-Mangel, virilisierende Form"],"definition":"Eine Form der klassischen kongenitalen Nebennierenhyperplasie durch 21-Hydroxylase-Mangel, die durch eine abnorme Entwicklung der Genitalien mit unterschiedlicher Virilisierung beim weiblichen Geschlecht und normalen Genitalien beim männlichen Geschlecht in Verbindung mit einem Glukokortikoid-Mangel gekennzeichnet ist, was zu einem Mangel an Salzverlust, beschleunigtem Wachstum und Knochenreifung, vorzeitiger Adrenarche und Pubertät und damit zu einer geringeren Körpergröße im Erwachsenenalter führt. Mädchen haben einen normalen Uterus, aber eine abnorme Entwicklung der Vagina."},"es":{"name":"Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa, forma virilizante simple","synonyms":["HSC clásica virilizante por 21-OHD"],"definition":"Es una forma de hiperplasia suprarrenal congénita clásica debido a un déficit de 21-hidroxilasa caracterizada por un desarrollo genital anómalo con niveles variables de virilización en las mujeres y genitales normales en los varones asociados a insuficiencia de glucocorticoides sin pérdida de sal, velocidad de tasa de crecimiento y maduración ósea aceleradas, adrenarquia prematura y pubertad precoz que conducen a una talla adulta baja. Las mujeres presentan un útero normal y varios grados de desarrollo vaginal anómalo."},"it":{"name":"Iperplasia congenita classica del surrene da deficit di 21-idrossilasi, forma virilizzante semplice","synonyms":["CAH classica da 21-OHD, forma virilizzante semplice"],"definition":"Si tratta di una forma di iperplasia congenita classica del surrene da deficit di 21-idrossilasi, caratterizzata da anomalie dello sviluppo dei genitali con virilizzazione di grado variabile nelle femmine, e da genitali normali nei maschi, associati all'insufficienza di glucocorticoidi, in assenza di perdita di sali, accelerazione della crescita e della maturazione ossea, adrenarca e pubertà precoci, che esitano in una statura ridotta nell'età adulta. Le femmine presentano un utero normale ed anomalie dello sviluppo della vagina di gravità variabile."},"nl":{"name":"Klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase, eenvoudige viriliserende vorm","synonyms":["Klassieke 21-OHD CAH, eenvoudige viriliserende vorm","Klassieke congenitale bijnierhyperplasie door deficiëntie van 21-hydroxylase, eenvoudige viriliserende vorm"],"definition":"Een vorm van klassieke congenitale adrenale hyperplasie door deficiëntie van 21-hydroxylase, gekenmerkt door abnormale ontwikkeling van geslachtsorganen, met variabele mate van virilisatie bij vrouwen en normale genitaliën bij mannen, geassocieerd met insufficiëntie van glucocorticoïden zonder zoutverlies, verhoogde groeisnelheid en botmaturatie, premature adrenarche, en vroegtijdige puberteit, met kleinere volwassen lichaamslengte tot gevolg. Vrouwen hebben een normale baarmoeder en variabele gradaties van abnormale ontwikkeling van vagina."},"pt":{"name":"Hiperplasia supra-renal congénita clássica por deficiência de 21-hidroxilase, forma virilizante simples","synonyms":["CAH clássica 21-OHD, forma virilizante simples"],"definition":"Forma de hiperplasia supra-renal congénita clássica devido a deficiência de 21-hidroxilase caracterizada por um desenvolvimento genital anómalo com níveis variáveis ​​de virilização em indivíduos do sexo feminino e genitália normal em indivíduos do sexo masculino associado a insuficiência de glicocorticóides e ausência de perda de sal, velocidade de crescimento acelerada e maturação óssea, adrenarca prematura e puberdade precoce levando à redução da altura na idade adulta. As doentes têm um útero normal e vários graus de desenvolvimento vaginal anómalo."},"pl":{"name":"Klasyczny wrodzony przerost nadnerczy spowodowany niedoborem 21-hydroksylazy, postać prosta maskulinizująca","synonyms":["Klasyczny 21-OHD CAH, postać prosta maskulinizująca"]},"cs":{"name":"Klasická forma vrozené adrenální hyperplázie způsobená deficitem 21-hydroxylázy, prostá virilizující forma","synonyms":["Klasická CAH, 21-OHD, prostá virilizující forma"]},"uk":{"name":"Класична вроджена гіперплазія надниркових залоз, зумовлена дефіцитом 21-гідроксилази, проста вірильна форма","synonyms":["Класичний 21-OHD АГС, проста вірилізуюча форма"],"definition":"A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development."},"zh":{"name":"21羟化酶缺乏所致经典单纯男性化型先天性肾上腺增生症","synonyms":["21羟化酶缺乏所致经典单纯男性化型CAH"],"definition":"21羟化酶缺乏所致典型先天性肾上腺增生的单纯雄性化形式（经典的21 OHD-CAH；见本术语）的特征是女性两性模糊和外生殖器男性化、皮质激素低下和无盐分漏失的性早熟。"},"tr":{"name":"21-hidroksilaz eksikliğine bağlı klasik Doğumsal adrenal hiperplazi, basit virilize form","synonyms":["Klasik 21-OHD CAH, basit virilize form"]}},"xrefs":[{"source":"OMIM","code":"201910","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2008316472"},{"source":"MONDO","code":"0017840","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679895","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90794,"name":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","classifications":[147,156,185,193,201,205]}],"children":[],"genes":[{"symbol":"CYP21A2","name":"cytochrome P450 family 21 subfamily A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2600","ensembl":"ENSG00000231852","omim":"613815","loci":["6p21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}