{"id":"https://openalex.org/W7130401747","doi":"https://doi.org/10.32641/andespediatr.v97i1.6098","title":"Tamizaje neonatal de Hiperplasia Suprarrenal Cong\u00e9nita en Chile: implementaci\u00f3n y desaf\u00edos iniciales","display_name":"Tamizaje neonatal de Hiperplasia Suprarrenal Cong\u00e9nita en Chile: implementaci\u00f3n y desaf\u00edos iniciales","publication_year":2026,"publication_date":"2026-02-12","ids":{"openalex":"https://openalex.org/W7130401747","doi":"https://doi.org/10.32641/andespediatr.v97i1.6098"},"language":"es","primary_location":{"id":"doi:10.32641/andespediatr.v97i1.6098","doi":"https://doi.org/10.32641/andespediatr.v97i1.6098","is_oa":true,"landing_page_url":"https://doi.org/10.32641/andespediatr.v97i1.6098","pdf_url":"https://andespediatrica.cl/index.php/rchped/article/download/6098/5514","source":{"id":"https://openalex.org/S4210174470","display_name":"Andes pediatrica","issn_l":"2452-6045","issn":["2452-6045","2452-6053"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","ki-jl-1","medline","poland-20","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310315486","host_organization_name":"Sociedad Chilena de Pediatr\u00eda","host_organization_lineage":["https://openalex.org/P4310315486"],"host_organization_lineage_names":["Sociedad Chilena de Pediatr\u00eda"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Andes Pediatrica","raw_type":"journal-article"},"volume":null,"type":"editorial","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://andespediatrica.cl/index.php/rchped/article/download/6098/5514","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066927853","display_name":"Juan Godoy","orcid":"https://orcid.org/0009-0002-3943-5020","observed_orcids":["https://orcid.org/0009-0002-3943-5020"]},"institutions":[{"id":"https://openalex.org/I4210156682","display_name":"Hospital San Borja Arriar\u00e1n","ror":"https://ror.org/04qdwp261","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I4210156682"]},{"id":"https://openalex.org/I69737025","display_name":"University of Chile","ror":"https://ror.org/047gc3g35","country_code":"CL","type":"education","lineage":["https://openalex.org/I69737025"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"Juan Pablo Rojas Godoy","raw_affiliation_strings":["nstituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile; Hospital Cl\u00ednico San Borja Arriar\u00e1n"],"raw_orcid":"https://orcid.org/0009-0002-3943-5020","affiliations":[{"raw_affiliation_string":"nstituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile; Hospital Cl\u00ednico San Borja Arriar\u00e1n","institution_ids":["https://openalex.org/I4210156682","https://openalex.org/I69737025"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5126334974","display_name":"Fabiola Parra Sandoval","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210156682","display_name":"Hospital San Borja Arriar\u00e1n","ror":"https://ror.org/04qdwp261","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I4210156682"]},{"id":"https://openalex.org/I69737025","display_name":"University of Chile","ror":"https://ror.org/047gc3g35","country_code":"CL","type":"education","lineage":["https://openalex.org/I69737025"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"Fabiola Parra Sandoval","raw_affiliation_strings":["Instituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile; Hospital Cl\u00ednico San Borja-Arriar\u00e1n"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile; Hospital Cl\u00ednico San Borja-Arriar\u00e1n","institution_ids":["https://openalex.org/I4210156682","https://openalex.org/I69737025"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034458281","display_name":"Franco Giraudo","orcid":"https://orcid.org/0000-0001-8750-1219","observed_orcids":["https://orcid.org/0000-0001-8750-1219"]},"institutions":[{"id":"https://openalex.org/I4210156682","display_name":"Hospital San Borja Arriar\u00e1n","ror":"https://ror.org/04qdwp261","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I4210156682"]},{"id":"https://openalex.org/I69737025","display_name":"University of Chile","ror":"https://ror.org/047gc3g35","country_code":"CL","type":"education","lineage":["https://openalex.org/I69737025"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"Franco Giraudo Abarca","raw_affiliation_strings":["Instituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile; Hospital Cl\u00ednico San Borja-Arriar\u00e1n"],"raw_orcid":"https://orcid.org/0000-0001-8750-1219","affiliations":[{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile; Hospital Cl\u00ednico San Borja-Arriar\u00e1n","institution_ids":["https://openalex.org/I4210156682","https://openalex.org/I69737025"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079069738","display_name":"Ver\u00f3nica Mericq G","orcid":"https://orcid.org/0000-0003-2287-0181","observed_orcids":["https://orcid.org/0000-0003-2287-0181"]},"institutions":[{"id":"https://openalex.org/I69737025","display_name":"University of Chile","ror":"https://ror.org/047gc3g35","country_code":"CL","type":"education","lineage":["https://openalex.org/I69737025"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"Ver\u00f3nica Mericq Guila","raw_affiliation_strings":["Instituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Materno Infantil; Universidad de Chile","institution_ids":["https://openalex.org/I69737025"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"97","issue":"1","first_page":"7","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9351000189781189,"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":0.9351000189781189,"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":0.045099999755620956,"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":0.01640000008046627,"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":0.9879999756813049},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.7310000061988831},{"id":"https://openalex.org/keywords/cyp21a2","display_name":"CYP21A2","score":0.8050000071525574},{"id":"https://openalex.org/keywords/21-hydroxylase-deficiency","display_name":"21-hydroxylase deficiency","score":0.9860000014305115},{"id":"https://openalex.org/keywords/salt-wasting-form","display_name":"salt-wasting form","score":0.6669999957084656},{"id":"https://openalex.org/keywords/adrenal-insufficiency","display_name":"adrenal insufficiency","score":0.8149999976158142},{"id":"https://openalex.org/keywords/hypogonadotropic-hypogonadism","display_name":"hypogonadotropic hypogonadism","score":0.6650000214576721},{"id":"https://openalex.org/keywords/chile","display_name":"Chile","score":0.546999990940094},{"id":"https://openalex.org/keywords/program-evaluation","display_name":"program evaluation","score":0.3310000002384186},{"id":"https://openalex.org/keywords/program-monitoring","display_name":"program monitoring","score":0.3440000116825104}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8773999810218811},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.45419999957084656},{"id":"https://openalex.org/C2777562237","wikidata":"https://www.wikidata.org/wiki/Q835051","display_name":"Hyperplasia","level":2,"score":0.2549000084400177},{"id":"https://openalex.org/C81182388","wikidata":"https://www.wikidata.org/wiki/Q353963","display_name":"Complication","level":2,"score":0.2159000039100647},{"id":"https://openalex.org/C2781056747","wikidata":"https://www.wikidata.org/wiki/Q1144406","display_name":"Oligohydramnios","level":4,"score":0.21160000562667847},{"id":"https://openalex.org/C2992981700","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disease","level":2,"score":0.1889999955892563},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.17839999496936798},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.1746000051498413},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.15950000286102295},{"id":"https://openalex.org/C201614185","wikidata":"https://www.wikidata.org/wiki/Q396833","display_name":"In utero","level":4,"score":0.15800000727176666}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.32641/andespediatr.v97i1.6098","doi":"https://doi.org/10.32641/andespediatr.v97i1.6098","is_oa":true,"landing_page_url":"https://doi.org/10.32641/andespediatr.v97i1.6098","pdf_url":"https://andespediatrica.cl/index.php/rchped/article/download/6098/5514","source":{"id":"https://openalex.org/S4210174470","display_name":"Andes pediatrica","issn_l":"2452-6045","issn":["2452-6045","2452-6053"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","ki-jl-1","medline","poland-20","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310315486","host_organization_name":"Sociedad Chilena de Pediatr\u00eda","host_organization_lineage":["https://openalex.org/P4310315486"],"host_organization_lineage_names":["Sociedad Chilena de Pediatr\u00eda"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Andes Pediatrica","raw_type":"journal-article"},{"id":"pmh:oai:scielo:S2452-60532026000100007","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S2452-60532026000100007","pdf_url":"http://www.scielo.cl/pdf/andesped/v97n1/2452-6053-andesped-andespediatr-v97i1-6098.pdf","source":{"id":"https://openalex.org/S4377196274","display_name":"Scientific Electronic Library Online (Scientific Electronic Library Online)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210137221","host_organization_name":"Scientific Electronic Library Online","host_organization_lineage":["https://openalex.org/I4210137221"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Andes pediatrica v.97 n.1 2026","raw_type":null},{"id":"pmh:oai:scielo:S2452-60532026005000310","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S2452-60532026005000310","pdf_url":"http://www.scielo.cl/pdf/andesped/2026nahead/2452-6053-andesped-andespediatr-v97i1-6098.pdf","source":{"id":"https://openalex.org/S4377196274","display_name":"Scientific Electronic Library Online (Scientific Electronic Library Online)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210137221","host_organization_name":"Scientific Electronic Library Online","host_organization_lineage":["https://openalex.org/I4210137221"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Andes pediatrica n.ahead 2026","raw_type":null}],"best_oa_location":{"id":"doi:10.32641/andespediatr.v97i1.6098","doi":"https://doi.org/10.32641/andespediatr.v97i1.6098","is_oa":true,"landing_page_url":"https://doi.org/10.32641/andespediatr.v97i1.6098","pdf_url":"https://andespediatrica.cl/index.php/rchped/article/download/6098/5514","source":{"id":"https://openalex.org/S4210174470","display_name":"Andes pediatrica","issn_l":"2452-6045","issn":["2452-6045","2452-6053"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","ki-jl-1","medline","poland-20","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310315486","host_organization_name":"Sociedad Chilena de Pediatr\u00eda","host_organization_lineage":["https://openalex.org/P4310315486"],"host_organization_lineage_names":["Sociedad Chilena de Pediatr\u00eda"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Andes Pediatrica","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9965000152587891}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7130401747.pdf","grobid_xml":"https://content.openalex.org/works/W7130401747.grobid-xml"},"referenced_works_count":5,"referenced_works":["https://openalex.org/W4238342841","https://openalex.org/W4292014225","https://openalex.org/W4311091146","https://openalex.org/W4367052521","https://openalex.org/W4406664560"],"related_works":["https://openalex.org/W4401909726","https://openalex.org/W1989246594","https://openalex.org/W2172796003","https://openalex.org/W4416426745","https://openalex.org/W4402676359","https://openalex.org/W7047663882","https://openalex.org/W7019592884","https://openalex.org/W4408959505","https://openalex.org/W4386731709","https://openalex.org/W2008362466"],"abstract_inverted_index":{"La":[0,191],"hiperplasia":[1],"suprarrenal":[2,22,120],"cong\u00e9nita":[3],"(HSRC)":[4],"corresponde":[5],"a":[6,93,112,156,170,218,313],"un":[7,24,68,80,150,165,186],"grupo":[8],"de":[9,11,29,31,48,56,64,70,74,82,107,114,130,142,175,235,254,263,265,288,292,295,308,316],"enfermedades":[10],"herencia":[12],"autos\u00f3mica":[13],"recesiva,":[14],"que":[15,45,87,111,222,277,336],"afecta":[16],"la":[17,20,27,49,54,88,105,108,118,145,159,199,219,233,293],"esteroidog\u00e9nesis":[18],"en":[19,41,86,99,182,190,194,206,227,232,238,272,299],"gl\u00e1ndula":[21,119],"con":[23,128,164,269,285,297],"resultado":[25],"com\u00fan:":[26],"disminuci\u00f3n":[28,89,290],"producci\u00f3n":[30,106],"cortisol":[32,57,91],"1":[33],".La":[34],"causa":[35],"m\u00e1s":[36,61,334],"frecuente":[37],"es":[38,161,248],"por":[39,185,198,258],"mutaciones":[40],"el":[42,100,125,261],"gen":[43],"CYP21A2":[44],"genera":[46],"d\u00e9ficit":[47],"enzima":[50],"21-hidroxilasa,":[51],"esencial":[52],"para":[53,139,246],"s\u00edntesis":[55],"y":[58,103,135,332],"aldosterona.\u00c9sta":[59],"comprende":[60],"del":[62,90,96,243],"95%":[63],"los":[65,179,266,273,322,337],"casos,":[66],"siendo":[67],"75%":[69],"ellos,":[71],"formas":[72,251],"perdedoras":[73,253,315],"sal":[75,317],"2":[76,132],".Estas":[77],"deficiencias":[78],"generan":[79],"estado":[81],"Insuficiencia":[83],"Suprarrenal":[84],"(ISR),":[85],"lleva":[92],"una":[94,215,300],"p\u00e9rdida":[95],"feedback":[97],"negativo":[98],"eje":[101],"hipot\u00e1lamo-hip\u00f3fisis-suprarrenal":[102],"aumenta":[104],"hormona":[109],"adrenocorticotr\u00f3pica,":[110],"trav\u00e9s":[113],"su":[115],"acci\u00f3n":[116],"sobre":[117,124],"estimula":[121],"las":[122,153,250],"v\u00edas":[123],"bloqueo":[126],"enzim\u00e1tico":[127],"sobreproducci\u00f3n":[129],"andr\u00f3genos":[131],".Su":[133],"epidemiolog\u00eda":[134],"consecuencias":[136],"son":[137,209],"claves":[138],"identificar":[140,249],"poblaciones":[141,154,174],"riesgo,":[143],"mejorar":[144],"detecci\u00f3n":[146],"temprana":[147],"e":[148],"iniciar":[149],"tratamiento":[151],"adecuado.Seg\u00fan":[152],"estudiadas":[155],"nivel":[157],"mundial,":[158],"incidencia":[160,216],"bastante":[162],"variable,":[163],"rango":[166],"entre":[167,224],"1:14":[168],"000":[169],"1:18":[171],"000,":[172],"existiendo":[173],"mayor":[176],"incidencia,":[177],"como":[178,305],"esquimales":[180],"Yupik":[181],"Alaska":[183],"(1:282)":[184],"efecto":[187],"fundador":[188],"o":[189],"Isla":[192],"Reuni\u00f3n":[193],"Africa":[195],"(1:2":[196],"141)":[197],"alta":[200],"consanguinidad":[201],"3":[202,240],".Los":[203],"datos":[204],"epidemiol\u00f3gicos":[205],"nuestro":[207],"pa\u00eds":[208],"pr\u00e1cticamente":[210],"nulos,":[211],"pero":[212],"se":[213],"estima":[214],"similar":[217],"poblaci\u00f3n":[220,234,301],"latinoamericana,":[221],"va":[223],"1:8":[225],"937":[226],"Argentina":[228],"hasta":[229],"1:19":[230],"927":[231],"Minas":[236],"Gerais":[237],"Brasil":[239],".El":[241],"objetivo":[242],"screening":[244,326],"neonatal":[245,327],"HSRC":[247,298],"cl\u00e1sicas":[252],"sal,":[255],"potencialmente":[256],"mortales":[257],"ISR.\u00c9ste":[259],"reduce":[260],"tiempo":[262],"diagn\u00f3stico":[264],"reci\u00e9n":[267],"nacidos":[268],"HSRC,":[270],"principalmente":[271],"pacientes":[274],"masculinos,":[275],"ya":[276],"sus":[278],"contrapartes":[279],"femeninas":[280],"pueden":[281],"presentarse":[282],"al":[283],"nacer":[284],"diferentes":[286],"grados":[287],"virilizaci\u00f3n.La":[289],"relativa":[291],"cantidad":[294],"hombres":[296],"debe":[302],"ser":[303],"considerada":[304],"evidencia":[306],"indirecta":[307],"muertes":[309],"no":[310],"reportadas":[311],"secundarias":[312],"crisis":[314],"4":[318],".Por":[319],"otra":[320],"parte,":[321],"ni\u00f1os":[323,338],"diagnosticados":[324],"mediante":[325],"tienen":[328],"hiponatremias":[329],"menos":[330],"severas":[331],"hospitalizaciones":[333],"cortas":[335],"diag-Andes":[339],"pediatr.":[340]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-02-19T00:00:00"}
