{"id":"https://openalex.org/W1904978643","doi":null,"title":"D\u00e9ficit de 21-hidroxilasa: aspectos actuales","display_name":"D\u00e9ficit de 21-hidroxilasa: aspectos actuales","publication_year":2009,"publication_date":"2009-01-03","ids":{"openalex":"https://openalex.org/W1904978643","mag":"1904978643"},"language":"es","primary_location":{"id":"pmh:oai:revcmpinar.sld.cu:article/473","doi":null,"is_oa":true,"landing_page_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/view/473","pdf_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/download/473/992","source":{"id":"https://openalex.org/S4306526599","display_name":"Revista de Ciencias M\u00e9dicas de Pinar del R\u00edo","issn_l":null,"issn":["1561-3194"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","latindex","scielo"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1561-3194","raw_type":"info:eu-repo/semantics/article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/download/473/992","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020152401","display_name":"Deysi Licourt Otero","orcid":"https://orcid.org/0000-0002-3809-3607","observed_orcids":["https://orcid.org/0000-0002-3809-3607"]},"institutions":[{"id":"https://openalex.org/I4387152096","display_name":"Universidad de Ciencias M\u00e9dicas de Pinar del R\u00edo","ror":"https://ror.org/024mh1n48","country_code":"CU","type":"education","lineage":["https://openalex.org/I4387152096"]}],"countries":["CU"],"is_corresponding":false,"raw_author_name":"Deysi Licourt Otero","raw_affiliation_strings":["Facultad de Ciencias M\u00e9dicas. Pinar del R\u00edo"],"raw_orcid":"https://orcid.org/0000-0002-3809-3607","affiliations":[{"raw_affiliation_string":"Facultad de Ciencias M\u00e9dicas. Pinar del R\u00edo","institution_ids":["https://openalex.org/I4387152096"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5069161348","display_name":"Martha Mar\u00eda P\u00e9rez Mart\u00edn","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Martha Mar\u00eda P\u00e9rez Mart\u00edn","raw_affiliation_strings":["Policl\u00ednico Docente Turcios Lima, Pinar del R\u00edo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Policl\u00ednico Docente Turcios Lima, Pinar del R\u00edo","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"13","issue":"1","first_page":"116","last_page":"129"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12421","display_name":"Adrenal Hormones and Disorders","score":0.0017999999690800905,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-adrenal-hyperplasia","display_name":"congenital adrenal hyperplasia","score":0.9480000138282776},{"id":"https://openalex.org/keywords/21-hydroxylase-deficiency","display_name":"21-hydroxylase deficiency","score":1.0},{"id":"https://openalex.org/keywords/cyp21a2","display_name":"CYP21A2","score":0.8659999966621399},{"id":"https://openalex.org/keywords/17-hydroxyprogesterone","display_name":"17-hydroxyprogesterone","score":0.9729999899864197},{"id":"https://openalex.org/keywords/salt-wasting-crisis","display_name":"salt-wasting crisis","score":0.4339999854564667},{"id":"https://openalex.org/keywords/aldosterone-deficiency","display_name":"aldosterone deficiency","score":0.7039999961853027},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.5649999976158142},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8130000233650208},{"id":"https://openalex.org/keywords/growth-hormone-therapy","display_name":"growth hormone therapy","score":0.6499999761581421},{"id":"https://openalex.org/keywords/adult-transition","display_name":"adult transition","score":0.36899998784065247},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.6669999957084656}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31549763679504395}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:revcmpinar.sld.cu:article/473","doi":null,"is_oa":true,"landing_page_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/view/473","pdf_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/download/473/992","source":{"id":"https://openalex.org/S4306526599","display_name":"Revista de Ciencias M\u00e9dicas de Pinar del R\u00edo","issn_l":null,"issn":["1561-3194"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","latindex","scielo"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1561-3194","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:36dfea5821414b94a968d6fc860ca033","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/36dfea5821414b94a968d6fc860ca033","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Revista de Ciencias M\u00e9dicas de Pinar del R\u00edo, Vol 13, Iss 1, Pp 116-129 (2009)","raw_type":"article"},{"id":"mag:1904978643","doi":null,"is_oa":true,"landing_page_url":"http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=s1561-31942009000100014","pdf_url":null,"source":{"id":"https://openalex.org/S4306526599","display_name":"Revista de Ciencias M\u00e9dicas de Pinar del R\u00edo","issn_l":null,"issn":["1561-3194"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","latindex","scielo"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Revista de Ciencias M\u00e9dicas de Pinar del R\u00edo","raw_type":null}],"best_oa_location":{"id":"pmh:oai:revcmpinar.sld.cu:article/473","doi":null,"is_oa":true,"landing_page_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/view/473","pdf_url":"https://revcmpinar.sld.cu/index.php/publicaciones/article/download/473/992","source":{"id":"https://openalex.org/S4306526599","display_name":"Revista de Ciencias M\u00e9dicas de Pinar del R\u00edo","issn_l":null,"issn":["1561-3194"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","erih-plus","latindex","scielo"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"1561-3194","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9907000064849854}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1904978643.pdf","grobid_xml":"https://content.openalex.org/works/W1904978643.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W22022930","https://openalex.org/W1531876718","https://openalex.org/W1840490636","https://openalex.org/W1975763314","https://openalex.org/W2049646510","https://openalex.org/W2112198851","https://openalex.org/W2145782219","https://openalex.org/W2151641957","https://openalex.org/W2153105743","https://openalex.org/W2277836451"],"related_works":["https://openalex.org/W2282642906","https://openalex.org/W7098474583","https://openalex.org/W60881798","https://openalex.org/W6987782777","https://openalex.org/W2424171231","https://openalex.org/W2263040772","https://openalex.org/W1986285534","https://openalex.org/W1984293988","https://openalex.org/W2047612224","https://openalex.org/W2461333810"],"abstract_inverted_index":{"La":[0,40],"hiperplasia":[1],"suprarrenal":[2],"cong\u00e9nita":[3],"(HSC)":[4],"es":[5,26],"una":[6],"de":[7,22,30,35,72,79,83,91,100,115,117,120,130,137,148,176,185,189,225],"las":[8,58,84,112,167,190],"alteraciones":[9],"autos\u00f3micas":[10],"recesivas":[11],"m\u00e1s":[12,88],"frecuentes,":[13],"caracterizada":[14],"por":[15],"un":[16],"defecto":[17],"enzim\u00e1tico":[18],"en":[19,27,104,139],"la":[20,24,33,36,118,134,140,146,183,215,221,226,231],"s\u00edntesis":[21],"cortisol,":[23,45],"causa":[25],"el":[28,64,124,158,171,174,212],"95%":[29,261],"los":[31,80,92,149,187,206],"casos,":[32],"deficiencia":[34,119],"enzima":[37],"21-hidroxilasa":[38],"(21-OH).":[39],"17-OH":[41],"progesterona,":[42],"precursor":[43,278],"del":[44,50,89,161,199,223],"presenta":[46,54],"valores":[47],"elevados,":[48],"marcadores":[49],"diagn\u00f3stico.":[51],"Esta":[52],"enfermedad":[53],"diferentes":[55,113],"formas":[56,114,152],"cl\u00ednicas:":[57],"cl\u00e1sicas":[59],"o":[60],"graves":[61,153],"comienzan":[62],"desde":[63],"per\u00edodo":[65],"neonatal,":[66],"con":[67,96,151,228],"s\u00edntomas":[68],"debidos":[69],"al":[70],"exceso":[71],"andr\u00f3genos":[73],"suprarrenales":[74],"como":[75,182],"virilidad":[76],"y":[77,122,126,143,154,173,192,196,205,217,220],"ambig\u00fcedad":[78],"genitales":[81],"externos":[82],"ni\u00f1as":[85],"afectadas.":[86],"En":[87],"70%":[90,319],"casos":[93],"se":[94,108],"asocia":[95],"p\u00e9rdida":[97,155],"salina":[98],"(deficiencia":[99],"aldosterona),":[101],"potencialmente":[102],"letal":[103],"varones":[105,150],"que":[106],"no":[107],"diagnostican":[109],"precozmente.":[110],"Resumimos":[111],"presentaci\u00f3n":[116],"21-OH,":[121],"describimos":[123],"diagn\u00f3stico":[125,159,195],"tratamiento.":[127],"Los":[128],"programas":[129],"detecci\u00f3n":[131],"precoz":[132],"evitan":[133],"asignaci\u00f3n":[135],"incorrecta":[136],"sexo":[138],"reci\u00e9n":[141],"nacida":[142],"pueden":[144],"salvar":[145],"vida":[147],"salina.":[156],"Comentamos":[157,210],"gen\u00e9tico-molecular":[160],"CYP21A2":[162,382],"(cromosoma":[163],"6p":[164,384],"21.3).":[165,385],"Revisamos":[166],"directrices":[168],"futuras":[169],"para":[170],"estudio":[172],"tratamiento":[175,197],"esta":[177],"enfermedad,":[178],"incluyendo":[179],"diversos":[180],"tratamientos":[181],"hormona":[184],"crecimiento,":[186],"antagonistas":[188],"gonadotropinas":[191],"otros.":[193],"El":[194],"prenatales":[198],"feto":[200],"femenino":[201],"afectado":[202],"son":[203,208],"posibles,":[204],"resultados":[207],"alentadores.":[209],"tambi\u00e9n,":[211],"abordaje":[213],"hacia":[214],"transici\u00f3n":[216],"edad":[218],"adulta,":[219],"relevancia":[222],"control":[224],"mujer":[227],"HAC":[229],"durante":[230],"gestaci\u00f3n.":[232],"Congenital":[233],"adrenal":[234,301],"hyperplasia":[235],"(CAH)":[236],"is":[237,247,266,272,323],"one":[238],"of":[239,252,262,275,279,309,320,344,346,368,381,395,428,436,438],"the":[240,264,293,310,341,361,366,378,391,419,426,429,434],"most":[241],"frequent":[242],"autosomal":[243],"recessive":[244],"disorders.":[245],"It":[246],"characterized":[248],"by":[249],"a":[250,277],"deficiency":[251,348],"an":[253,336],"enzyme":[254],"involved":[255],"in":[256,260,292,313,333,360,412],"cortisol":[257],"synthesis":[258],"and":[259,286,307,349,352,363,373,393,405,410,418,433],"patients":[263],"cause":[265],"21-hydroxylase":[267,347],"deficiency.":[268],"A":[269],"diagnostic":[270],"marker":[271],"elevated":[273],"levels":[274],"17-hydroxyprogesterone,":[276],"cortisol.":[280],"CAH":[281,441],"has":[282],"several":[283,399],"clinical":[284],"forms,":[285],"classical":[287],"or":[288],"severe":[289,371],"forms":[290,343,372],"manifest":[291],"neonatal":[294],"period":[295],"with":[296,370,440],"symptoms":[297],"due":[298],"to":[299,431],"excess":[300],"androgen":[302],"production":[303],"such":[304,401],"as":[305],"virilization":[306],"ambiguity":[308],"external":[311],"genitalia":[312],"affected":[314,413],"girls.":[315],"In":[316],"more":[317],"than":[318],"patients,":[321],"there":[322],"associated":[324],"salt":[325,374],"wasting":[326],"(aldosterone":[327],"deficiency),":[328],"which":[329],"can":[330,364],"be":[331],"fatal":[332],"males":[334,369],"without":[335],"early":[337],"diagnosis.":[338],"We":[339,376,386,423],"summarize":[340],"various":[342],"presentation":[345],"describe":[350],"diagnosis":[351,380,409],"treatment.":[353],"Screening":[354],"programs":[355],"avoid":[356],"incorrect":[357],"sex":[358],"assignment":[359],"newborn":[362],"save":[365],"lives":[367],"wasting.":[375],"discuss":[377,425],"genetic-molecular":[379],"(chromosome":[383],"review":[387],"future":[388],"recommendations":[389],"for":[390],"study":[392],"management":[394,427],"this":[396],"disease,":[397],"including":[398],"treatments":[400],"as,":[402],"growth":[403],"hormone,":[404],"gonadotrophin":[406],"antagonists.":[407],"Prenatal":[408],"treatment":[411],"female":[414],"fetuses":[415],"are":[416,421],"feasible":[417],"results":[420],"encouraging.":[422],"also":[424],"transition":[430],"adulthood":[432],"importance":[435],"follow-up":[437],"women":[439],"during":[442],"pregnancy.":[443]},"counts_by_year":[{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
