{"orpha":90791,"name":"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"],"definition":"A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90791/","orphanet_url":"https://www.orpha.net/en/disease/detail/90791","names":{"fr":{"name":"Hyperplasie congénitale des surrénales par déficit en 3-bêta-hydroxystéroïde déshydrogénase","synonyms":["HCS par déficit en 3-bêta-hydroxystéroïde déshydrogénase"],"definition":"Forme rare d'hyperplasie congénitale des surrénales (HCS) due à un déficit en 3-bêta-hydroxystéroïde déshydrogénase (HSD3B2) et caractérisée par une HCS avec perte de sel et sans perte de sel avec un large spectre clinique incluant des déficits en glucocorticoïdes et minéralocorticoïdes affectant les deux sexes. La perte de sel peut entraîner une déshydratation et une hypotension au cours des premières semaines de vie. Les hommes affectés présentent une sous-virilisation se manifestant par un micropénis et un hypospadias périnéo-scrotal sévère. Chez les femmes, les organes génitaux externes sont normaux ou légèrement virilisés (clitoromégalie légère, fusion labiale) en raison de l'accumulation de déhydroépiandrostérone (DHEA) et de sa conversion en androgènes par le HSD3B1 non déficient."},"de":{"name":"Nebennierenhyperplasie, kongenitale, durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel","synonyms":["CAH durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel","Kongenitale adrenale Hyperplasie durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel"],"definition":"Eine seltene Form der kongenitalen Nebennierenhyperplasie (CAH), die durch einen Mangel an 3-beta-Hydroxysteroid-Dehydrogenase (HSD3B2) verursacht wird und durch Salzverlust und nicht-salzverlustbedingte CAH mit einer Vielzahl von Symptomen, einschließlich Glukokortikoid- und Mineralokortikoidmangel bei beiden Geschlechtern, gekennzeichnet ist. Der Salzverlust kann in den ersten Lebenswochen zu Dehydratation und Hypotonie führen. Bei männlichen Betroffenen manifestiert sich die Insuffizienz in Form eines Mikropenis bis hin zu einer schweren perineoskrotalen Hypospadie. Weibliche Betroffene haben ein normales oder leicht virilisiertes äußeres Genitale (leichte Klitoromegalie, Labienfusion) aufgrund der Akkumulation von Dehydroepiandrosteron (DHEA) und dessen Umwandlung in Androgene durch normales HSD3B1."},"es":{"name":"Hiperplasia suprarrenal congénita por deficiencia de 3-beta-hidroxiesteroide deshidrogenasa","synonyms":["CAH por deficiencia de 3-beta-hidroxiesteroide deshidrogenasa"],"definition":"Es una forma poco frecuente de hiperplasia suprarrenal congénita (HSC) debida a la deficiencia de 3-beta-hidroxiesteroide deshidrogenasa (HSD3B2) y caracterizada por HSC con y sin pérdida de sal con una amplia variedad de síntomas, que incluyen déficits de glucocorticoides y mineralocorticoides en ambos sexos. La pérdida de sal puede provocar deshidratación e hipotensión en las primeras semanas de vida. Los varones afectos descritos presentaban subvirilización que se manifestaba desde un micropene hasta hipospadias perineoescrotal grave. Las mujeres muestran genitales externos normales o levemente virilizados (clitoromegalia leve, fusión labial) debido al acúmulo de dehidroepiandrosterona (DHEA) y a la conversión a andrógenos por la HSD3B1 normal."},"it":{"name":"Iperplasia congenita del surrene da deficit di 3-beta-idrossisteroido deidrogenasi","synonyms":["CAH da deficit di 3-beta-idrossisteroido deidrogenasi"],"definition":"Si tratta di una forma rara di iperplasia congenita del surrene (CAH), causata dal deficit della 3-beta-idrossisteroide deidrogenasi (HSD3B2), che comprende forme con e senza perdita di sali, associate ad un'ampia gamma di sintomi, tra i quali il deficit di glucocorticoidi e di mineralcorticoidi in entrambi i sessi. La perdita di sali può causare la disidratazione e l'ipotensione nelle prime settimane di vita. I maschi presentano una scarsa virilizzazione associata a micropene o ipospadia perineo-scrotale grave. Le femmine presentano genitali esterni normali o leggermente virilizzati (clitoromegalia lieve, fusione delle labbra) a causa dell'accumulo di deidroepiandrosterone (DHEA) e della sua conversione in androgeni da parte dell'HSD3B1 normale."},"nl":{"name":"Congenitale adrenale hyperplasie door deficiëntie van 3-bèta-hydroxysteroïdedehydrogenase","synonyms":["CAH door deficiëntie van 3-bèta-hydroxysteroïdedehydrogenase","Congenitale bijnierhyperplasie door deficiëntie van 3-bèta-hydroxysteroïdedehydrogenase"],"definition":"Een zeldzame vorm van congenitale adrenale hyperplasie (CAH) door deficiëntie van 3-bèta-hydroxysteroïddehydrogenase (HSD3B2), gekenmerkt door zoutverliezende en niet-zoutverliezende CAH met een brede waaier aan symptomen, waaronder deficiëntie van glucocorticoïd en mineralocorticoïd bij beide geslachten. Zoutverlies kan leiden tot dehydratie en hypotensie tijdens de eerste levensweken. Getroffen mannen lijden aan ondervirilisatie die zich manifesteert als micropenis tot ernstige perineoscrotale hypospadie. Vrouwen vertonen normale of mild geviriliseerde uitwendige geslachtsorganen (milde clitoromegalie, fusie van schaamlippen) door dehydro-epiandrosteron (DHEA) en omzetting naar androgenen door normaal HSD3B1."},"pt":{"name":"Hiperplasia supra-renal congénita por deficiência de 3-beta-hidroxi-esteróide desidrogenase","synonyms":["CAH por deficiência de 3-beta-hidroxi-esteróide desidrogenase"],"definition":"Forma rara de hiperplasia supra-renal congénita (HSC) devido a deficiência de 3-beta-hidroxiesteróide desidrogenase (HSD3B2) e caracterizada por HSC perda e sem perda de sal com uma ampla variedade de sintomas, incluindo deficiência de glicocorticóides e mineralocorticóides em ambos os sexos. A perda de sal pode levar à desidratação e hipotensão nas primeiras semanas de vida. Os indivíduos doentes do sexo masculino apresentam subvirilização cujas manifestações variam desde a presença de micropénis a hipospádia perineoscrotal grave. Os indivíduos doentes do sexo feminino apresentam genitália externa normal ou com discretos sinais de virilização (clitoromegália leve, fusão labial) devido ao acúmulo de desidroepiandrosterona (DHEA) e conversão a andrógeneos pelo HSD3B1 normal."},"pl":{"name":"Wrodzony przerost nadnerczy spowodowany niedoborem dehydrogenazy 3-beta-hydroksysteroidowej","synonyms":["CAH z powodu niedoboru dehydrogenazy 3-beta-hydroksysteroidowej"]},"cs":{"name":"Vrozená adrenální hyperplázie způsobená deficitem 3-beta-hydroxysteroid dehydrogenázy","synonyms":["CAH způsobená deficitem 3-beta-hydroxysteroid dehydrogenázy"]},"uk":{"name":"Вроджена гіперплазія надниркових залоз внаслідок дефіциту 3-бета-гідроксистероїддегідрогенази","synonyms":["АГС внаслідок дефіциту 3-бета-гідроксистероїддегідрогенази"],"definition":"A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1."},"zh":{"name":"3β-羟基类固醇脱氢酶缺乏所致先天性肾上腺皮质增生症","synonyms":["3β-羟基类固醇脱氢酶缺乏所致先天性肾上腺皮质增生"]},"tr":{"name":"3-beta-hidroksisteroid dehidrojenaz eksikliğine bağlı doğumsal adrenal hiperplazi","synonyms":["3-beta-hidroksisteroid dehidrojenaz eksikliğine bağlı CAH"]}},"xrefs":[{"source":"OMIM","code":"201810","qualifier":"E","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":"929626064"},{"source":"MONDO","code":"0008727","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538236","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342471","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9152","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90776,"name":"46,XX difference of sex development induced by fetal androgens excess","classifications":[147,156,185,193,205]},{"orpha":90786,"name":"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect","classifications":[147,156,185,193,205,233]},{"orpha":418,"name":"Congenital adrenal hyperplasia","classifications":[156,193]}],"children":[],"genes":[{"symbol":"HSD3B2","name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5218","ensembl":"ENSG00000203859","omim":"613890","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":68.0,"area":"Worldwide","status":"Validated","source":"12428206[PMID]_15671104[PMID]_17496421[PMID]_15448795[PMID]_15559435[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-01","source":"31950145[PMID]_26290012[PMID]_33415088[PMID]","terms":[{"hpo":"HP:0008258","label":"Congenital adrenal hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500022","label":"Abnormal serum dehydroepiandrosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011749","label":"Adrenocorticotropic hormone excess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031213","label":"Elevated circulating 17-hydroxyprogesterone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025380","label":"Increased circulating androstenedione concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012881","label":"Abnormality of the labia majora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000808","label":"Penoscrotal hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012412","label":"Premature adrenarche","frequency":"Occasional (29-5%)","criteria":null}]}}