{"id":"https://openalex.org/W196765476","doi":null,"title":"Childhood-onset congenital adrenal hyperplasia: long-term outcome and optimization of therapy.","display_name":"Childhood-onset congenital adrenal hyperplasia: long-term outcome and optimization of therapy.","publication_year":2004,"publication_date":"2004-03-01","ids":{"openalex":"https://openalex.org/W196765476","mag":"196765476","pmid":"https://pubmed.ncbi.nlm.nih.gov/15134301"},"language":"en","primary_location":{"id":"pmid:15134301","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15134301","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of pediatric endocrinology & metabolism : JPEM","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110942676","display_name":"Jos\u00e9 Ignacio Labarta","orcid":"https://orcid.org/0000-0002-2319-5096","observed_orcids":["https://orcid.org/0000-0002-2319-5096"]},"institutions":[{"id":"https://openalex.org/I4210114530","display_name":"Hospital Universitario Miguel Servet","ror":"https://ror.org/01r13mt55","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210114530"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J I Labarta","raw_affiliation_strings":["Endocrinology Unit, Children's Hospital Miguel Servet, Zaragoza, Spain. jilabarta@aragob.salud.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrinology Unit, Children's Hospital Miguel Servet, Zaragoza, Spain. jilabarta@aragob.salud.es","institution_ids":["https://openalex.org/I4210114530"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066249811","display_name":"E Bello","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Bello","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089328598","display_name":"M. Ruiz-Echarri","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Ruiz-Echarri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"C Rueda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Rueda","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057661853","display_name":"Pedro Martul","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Martul","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110087814","display_name":"E Mayayo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Mayayo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5005577699","display_name":"\u00c1ngel Ferrandez Long\u00e1s","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Ferr\u00e1ndez Long\u00e1s","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.3227,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.62567256,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"17 Suppl 3","issue":null,"first_page":"411","last_page":"22"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9945999979972839,"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":0.9945999979972839,"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":0.005200000014156103,"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":0.0,"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":0.9789999723434448},{"id":"https://openalex.org/keywords/21-hydroxylase-deficiency","display_name":"21-hydroxylase deficiency","score":0.996999979019165},{"id":"https://openalex.org/keywords/long-term-outcomes","display_name":"long-term outcomes","score":0.7639999985694885},{"id":"https://openalex.org/keywords/glucocorticoid-replacement-therapy","display_name":"glucocorticoid replacement therapy","score":0.9259999990463257},{"id":"https://openalex.org/keywords/mineralocorticoid-replacement","display_name":"mineralocorticoid replacement","score":0.9520000219345093},{"id":"https://openalex.org/keywords/hyperandrogenism","display_name":"hyperandrogenism","score":0.9409999847412109},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.7129999995231628},{"id":"https://openalex.org/keywords/bone-mass","display_name":"bone mass","score":0.800000011920929},{"id":"https://openalex.org/keywords/gonadal-dysfunction","display_name":"gonadal dysfunction","score":0.9229999780654907},{"id":"https://openalex.org/keywords/fertility","display_name":"fertility","score":0.5070000290870667},{"id":"https://openalex.org/keywords/psychosexual-dysfunction","display_name":"psychosexual dysfunction","score":0.8270000219345093},{"id":"https://openalex.org/keywords/androgen-receptor-antagonists","display_name":"androgen receptor antagonists","score":0.8899999856948853},{"id":"https://openalex.org/keywords/adrenalectomy","display_name":"adrenalectomy","score":0.8790000081062317},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9269999861717224}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8874996900558472},{"id":"https://openalex.org/C2777767042","wikidata":"https://www.wikidata.org/wiki/Q366868","display_name":"Congenital adrenal hyperplasia","level":2,"score":0.8562695980072021},{"id":"https://openalex.org/C2776631543","wikidata":"https://www.wikidata.org/wiki/Q1433654","display_name":"Virilization","level":4,"score":0.7352213859558105},{"id":"https://openalex.org/C2780186808","wikidata":"https://www.wikidata.org/wiki/Q10529545","display_name":"Hyperandrogenism","level":5,"score":0.6312837600708008},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5494574308395386},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.47636696696281433},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.38172340393066406},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3618341088294983},{"id":"https://openalex.org/C511355011","wikidata":"https://www.wikidata.org/wiki/Q12174","display_name":"Obesity","level":2,"score":0.34093379974365234},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.3079475462436676},{"id":"https://openalex.org/C2777911890","wikidata":"https://www.wikidata.org/wiki/Q62614","display_name":"Androgen","level":3,"score":0.23080193996429443},{"id":"https://openalex.org/C2777391703","wikidata":"https://www.wikidata.org/wiki/Q1053470","display_name":"Insulin resistance","level":3,"score":0.0891166627407074},{"id":"https://openalex.org/C3018442814","wikidata":"https://www.wikidata.org/wiki/Q500816","display_name":"Polycystic ovary","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D000312","descriptor_name":"Adrenal Hyperplasia, Congenital","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D000312","descriptor_name":"Adrenal Hyperplasia, Congenital","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D004358","descriptor_name":"Drug Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D004358","descriptor_name":"Drug Therapy","qualifier_ui":"Q000639","qualifier_name":"trends","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":1,"locations":[{"id":"pmid:15134301","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15134301","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of pediatric endocrinology & metabolism : JPEM","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4389252463","https://openalex.org/W2055321497","https://openalex.org/W2065282511","https://openalex.org/W2005357117","https://openalex.org/W1916464046","https://openalex.org/W2917844765","https://openalex.org/W2048787206","https://openalex.org/W2165873915","https://openalex.org/W2048795939","https://openalex.org/W1522633827"],"abstract_inverted_index":{"Congenital":[0],"adrenal":[1,65],"hyperplasia":[2],"is":[3,23,93,100,140,158],"a":[4,101,119],"general":[5],"term":[6],"applied":[7],"to":[8,142],"several":[9],"disorders":[10],"caused":[11],"by":[12,95,161],"inherited":[13],"recessive":[14],"defects":[15],"of":[16,29,37,85,90,104,126,137,163,205,208],"cortisol":[17],"synthesis.":[18],"The":[19,31,49],"most":[20],"common":[21],"form":[22],"21-hydroxylase":[24],"deficiency,":[25],"accounting":[26],"for":[27,213],"95%":[28],"cases.":[30,216],"classical":[32,50],"forms":[33,44],"have":[34,108],"an":[35],"incidence":[36],"one":[38,46],"in":[39,47,55,77,122,173,193],"15,000":[40],"and":[41,64,124,129,147,150,190,211],"the":[42,56,71,112,203],"non-classical":[43,72],"about":[45],"1,000.":[48],"or":[51,59,68,73,80,169],"severe":[52],"phenotype":[53,75],"presents":[54,76],"newborn":[57],"period":[58],"early":[60,81],"infancy":[61],"with":[62,67,83,131,186],"virilization":[63],"insufficiency,":[66],"without":[69],"salt-losing;":[70],"mild":[74],"late":[78],"childhood":[79],"adulthood":[82],"signs":[84],"hyperandrogenism.":[86],"This":[87],"wide":[88],"range":[89],"clinical":[91],"expression":[92],"explained":[94],"genetic":[96],"variation.":[97],"Although":[98],"there":[99,116],"certain":[102],"amount":[103],"genotype-phenotype":[105],"correlation,":[106],"discrepancies":[107],"been":[109,118],"described.":[110],"During":[111],"last":[113],"30":[114],"years":[115],"has":[117],"substantial":[120],"improvement":[121],"diagnosis":[123],"treatment":[125,196],"this":[127,138],"disease,":[128],"patients":[130],"CAH":[132],"now":[133],"reach":[134],"adulthood.":[135],"Treatment":[136],"condition":[139],"intended":[141],"reduce":[143],"excessive":[144],"corticotropin":[145],"secretion":[146],"replace":[148],"glucocorticoids":[149],"mineralocorticoids":[151],"as":[152,154,202],"physiologically":[153],"possible.":[155],"Clinical":[156],"management":[157],"often":[159],"complicated":[160],"periods":[162],"inadequately":[164],"treated":[165],"hyperandrogenism,":[166],"iatrogenic":[167],"hypercortisolism,":[168],"both.":[170],"Long-term":[171],"consequences":[172],"adult":[174],"life":[175],"may":[176],"include":[177],"short":[178],"stature,":[179],"obesity,":[180],"diminished":[181],"bone":[182],"mass,":[183],"gonadal":[184],"dysfunction":[185,192],"low":[187],"fertility":[188],"rates":[189],"psychosexual":[191],"females.":[194],"New":[195],"approaches":[197],"are":[198],"under":[199],"investigation,":[200],"such":[201],"use":[204],"anti-androgens,":[206],"inhibitors":[207],"estrogen":[209],"production":[210],"adrenalectomy":[212],"severely":[214],"resistant":[215]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}