{"orpha":95702,"name":"X-linked adrenal hypoplasia congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked AHC","X-linked congenital adrenal hypoplasia"],"definition":"A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95702/","orphanet_url":"https://www.orpha.net/en/disease/detail/95702","names":{"fr":{"name":"Hypoplasie congénitale des surrénales liée à l'X","synonyms":["Hypoplasie surrénalienne congénitale liée à l'X"],"definition":"Maladie génétique rare des surrénales, caractérisée par une insuffisance surrénale primaire (IS) et/ou un hypogonadisme hypogonadotrope (HH). Les hommes présentent généralement une IS d'apparition aiguë pendant la petite enfance ou insidieuse pendant l'enfance. Les signes cliniques de l'IS sont une hyperpigmentation, des vomissements, des difficultés à s'alimenter, un retard de croissance, des crises convulsives, un collapsus vasculaire et, parfois, une mort subite. Le HH se manifeste plus tardivement par un retard ou un arrêt de la puberté. Dans de rares cas, les patients commencent à présenter des symptômes au début de l'âge adulte, tels qu'une IS à début tardif, un HH partiel et/ou une infertilité. Sur le plan histologique, on observe l'absence du cortex permanent dans les glandes surrénales. Les cellules restantes sont plus grandes que les cellules surrénales foetales (« cytomégaliques ») et renferment des inclusions nucléaires caractéristiques."},"de":{"name":"Nebennierenhypoplasie, kongenitale, X-chromosomale","synonyms":["X-chromosomale AHC"],"definition":"Eine seltene genetische Nebennierenerkrankung, die durch primäre Nebenniereninsuffizienz (AI) und/oder hypogonadotropen Hypogonadismus (HH) gekennzeichnet ist. Männliche Patienten weisen typischerweise eine AI mit akutem Beginn im Säuglingsalter oder schleichendem Beginn in der Kindheit auf. Zu den klinischen Merkmalen der AI gehören Hyperpigmentierung, Erbrechen, schlechte Nahrungsaufnahme, Gedeihstörung, Krampfanfälle, Gefäßkollaps und manchmal plötzlicher Tod. HH manifestiert sich später als verzögerte oder gestoppte Pubertät. In seltenen Fällen werden die Patienten im frühen Erwachsenenalter symptomatisch und zeigen eine verzögert einsetzende AI, partielle HH und/oder Unfruchtbarkeit. Histologisch gesehen fehlt den Nebennieren die permanente adulte kortikale Zone. Die verbleibenden Zellen sind größer als fetale Nebennierenzellen (''zytomegal'') und enthalten charakteristische Kerneinschlüsse."},"es":{"name":"Hipoplasia suprarrenal congénita ligada al cromosoma X","definition":"Es una enfermedad suprarrenal de origen genético poco frecuente caracterizada por insuficiencia suprarrenal primaria (IS) y/o hipogonadismo hipogonadotrópico (HH). Los pacientes varones suelen presentar IS de inicio agudo en la lactancia o de inicio insidioso en la infancia. Las características clínicas de la IS incluyen hiperpigmentación, vómitos, problemas de alimentación, fallo de medro, crisis, colapso vascular y, en ocasiones, muerte súbita. El HH se manifiesta más tarde como un retraso o arresto de la pubertad. En raras ocasiones, los pacientes se vuelven sintomáticos en la edad adulta temprana con IS de inicio tardío, HH parcial y/o infertilidad. Histológicamente, las glándulas suprarrenales carecen de la zona cortical adulta permanente. Las células restantes son de mayor tamaño que las células suprarrenales fetales (''citomegálicas'') y contienen inclusiones nucleares características."},"it":{"name":"Ipoplasia congenita dei surreni legata all'X","synonyms":["Ipoplasia surrenalica congenita legata all'X"],"definition":"Si tratta di una malattia genetica rara dei surreni, caratterizzata da insufficienza surrenalica (IA) primitiva e/o ipogonadismo ipogonadotropo (HH). Di solito i maschi presentano un'IA ad esordio acuto nella prima infanzia o ad esordio insidioso durante l'infanzia. I segni clinici dell'IA comprendono l'iperpigmentazione, il vomito, le difficoltà di alimentazione, il ritardo della crescita, le crisi epilettiche, il collasso vascolare e, occasionalmente, la morte improvvisa. L'HH esordisce successivamente con il ritardo o l'arresto della pubertà. In rari casi, i pazienti sviluppano i sintomi della malattia nella prima età adulta, con IA ad esordio tardivo, HH parziale e/o infertilità. Dal punto di vista istologico, nelle ghiandole surrenali è assente la zona corticale adulta permanente. Le cellule rimanenti sono più grandi delle cellule surrenali fetali (\"citomegaliche\") e contengono caratteristiche inclusioni nucleari."},"nl":{"name":"X-gebonden congenitale bijnierhypoplasie","synonyms":["X-gebonden AHC","X-gebonden adrenale hypoplasia congenita"],"definition":"Een zeldzame, genetische aandoening van bijnier, gekarakteriseerd door primaire bijnierschorsinsufficiëntie (AI) en/of hypogonadotroop hypogonadisme (HH). Mannelijke patiënten presenteren zich doorgaans met AI met acute aanvang in de zuigelingentijd of sluipende aanvang in de kindertijd. Klinische kenmerken van AI zijn onder meer hyperpigmentatie, braken, weinig eten, niet-gedijen, insulten, vasculaire collaps, en soms acute dood. HH manifesteert zich later als vertraging of stilstand van de puberteit. In zeldzame gevallen worden patiënten symptomatisch in de vroege volwassenheid met laat optredende AI, partieel HH, en/of infertiliteit. Histologisch ontbreekt bij de bijnieren de permanente adulte corticale zone. De resterende cellen zijn groter dan foetale adrenale cellen (''cytomegalic'') en bevatten kenmerkende nucleaire inclusies."},"pt":{"name":"Hipoplasia supra-renal congénita ligada ao X","synonyms":["AHC ligada ao X"]},"pl":{"name":"Wrodzona hipoplazja nadnerczy sprzężona z chromosomem X z powodu punktowej mutacji w NR0B1","synonyms":["Wrodzona hipoplazja nadnerczy sprzężona z chromosomem X"]},"cs":{"name":"Cytomegalická vrozená adrenální hypoplázie","synonyms":["X-vázaná vrozená adrenální hypoplázie"]},"uk":{"name":"Вроджена гіпоплазія надниркових залоз, зчеплена з Х-хромосомою","synonyms":["Х-зчеплений AHC","Х-зчеплена вроджена гіпоплазія надниркових залоз"],"definition":"A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, failure to thrive, seizures, vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions."},"zh":{"name":"先天性巨细胞性肾上腺发育不全","synonyms":["X染色体连锁遗传先天性肾上腺发育不全"]},"tr":{"name":"Sitomegalik doğumsal adrenal hipoplazi","synonyms":["X'e bağlı doğumsal adrenal hipoplazi"]}},"xrefs":[{"source":"OMIM","code":"202155","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E27.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC80","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"785907095"},{"source":"MONDO","code":"0010264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342482","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":595337,"name":"Adrenal hypoplasia congenita","classifications":[156,193]},{"orpha":181390,"name":"Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature","classifications":[156,193,201,205]}],"children":[],"genes":[{"symbol":"NR0B1","name":"nuclear receptor subfamily 0 group B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301604[PMID]","hgnc":"7960","ensembl":"ENSG00000169297","omim":"300473","loci":["Xp21.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Worldwide","status":"Validated","source":"20301604[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Worldwide","status":"Validated","source":"20301604[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-30","source":"37237297[PMID]_36160878[PMID]","terms":[{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008186","label":"Adrenocortical cytomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030344","label":"Decreased circulating luteinizing hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0046504","label":"Decreased libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}