{"id":"https://openalex.org/W21533689","doi":null,"title":"[Klinefelter syndrome: genetic aspects, characteristics and reproduction--present and future].","display_name":"[Klinefelter syndrome: genetic aspects, characteristics and reproduction--present and future].","publication_year":2014,"publication_date":"2014-06-01","ids":{"openalex":"https://openalex.org/W21533689","mag":"21533689","pmid":"https://pubmed.ncbi.nlm.nih.gov/25095608"},"language":"en","primary_location":{"id":"pmid:25095608","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25095608","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":"Harefuah","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/A5111771825","display_name":"Guy Bar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Guy Bar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076588125","display_name":"Eitan Lunenfeld","orcid":"https://orcid.org/0000-0003-2260-9530","observed_orcids":["https://orcid.org/0000-0003-2260-9530"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eitan Lunenfeld","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5033587497","display_name":"Eliahu Levitas","orcid":"https://orcid.org/0000-0002-1542-0011","observed_orcids":["https://orcid.org/0000-0002-1542-0011"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eliahu Levitas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.0115,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.73701155,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"153","issue":"6","first_page":"342","last_page":"5, 366"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.7202000021934509,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.7202000021934509,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.15389999747276306,"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/T10116","display_name":"Sperm and Testicular Function","score":0.10679999738931656,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/klinefelter-syndrome","display_name":"Klinefelter syndrome","score":1.0},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.9559999704360962},{"id":"https://openalex.org/keywords/primary-testicular-failure","display_name":"primary testicular failure","score":0.972000002861023},{"id":"https://openalex.org/keywords/hormone-replacement-therapy","display_name":"hormone replacement therapy","score":0.5289999842643738},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.8330000042915344},{"id":"https://openalex.org/keywords/assisted-reproductive-technology","display_name":"assisted reproduction","score":0.5979999899864197},{"id":"https://openalex.org/keywords/intracytoplasmic-sperm-injection","display_name":"intracytoplasmic sperm injection","score":0.9769999980926514},{"id":"https://openalex.org/keywords/testicular-sperm-extraction","display_name":"testicular sperm extraction","score":0.8820000290870667},{"id":"https://openalex.org/keywords/testicular-biopsy","display_name":"testicular biopsy","score":0.6050000190734863},{"id":"https://openalex.org/keywords/genetic-mosaicism","display_name":"genetic mosaicism","score":0.5019999742507935},{"id":"https://openalex.org/keywords/bone-loss","display_name":"bone loss","score":0.5070000290870667},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.43299999833106995},{"id":"https://openalex.org/keywords/cardiovascular-risk","display_name":"cardiovascular risk","score":0.47999998927116394}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8466207981109619},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.7178820371627808},{"id":"https://openalex.org/C518429986","wikidata":"https://www.wikidata.org/wiki/Q964401","display_name":"Fertility","level":3,"score":0.6500591039657593},{"id":"https://openalex.org/C2776314099","wikidata":"https://www.wikidata.org/wiki/Q207133","display_name":"Klinefelter syndrome","level":2,"score":0.49700310826301575},{"id":"https://openalex.org/C2777338322","wikidata":"https://www.wikidata.org/wiki/Q280156","display_name":"Male infertility","level":4,"score":0.4796917140483856},{"id":"https://openalex.org/C135964268","wikidata":"https://www.wikidata.org/wiki/Q3427336","display_name":"Human reproduction","level":2,"score":0.4237819314002991},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.41377484798431396},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3344533443450928},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.24764186143875122},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.11321467161178589},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.08738481998443604},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002318","descriptor_name":"Cardiovascular Diseases","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D003920","descriptor_name":"Diabetes Mellitus","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":true},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D007713","descriptor_name":"Klinefelter Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D007713","descriptor_name":"Klinefelter Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D007713","descriptor_name":"Klinefelter Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007713","descriptor_name":"Klinefelter Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D007713","descriptor_name":"Klinefelter Syndrome","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008660","descriptor_name":"Metabolism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D011788","descriptor_name":"Quality of Life","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013091","descriptor_name":"Spermatogenesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013737","descriptor_name":"Testis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013737","descriptor_name":"Testis","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D016743","descriptor_name":"Mental Competency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020249","descriptor_name":"Hormone Replacement Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D057210","descriptor_name":"Delayed Diagnosis","qualifier_ui":"Q000009","qualifier_name":"adverse effects","is_major_topic":false},{"descriptor_ui":"D057210","descriptor_name":"Delayed Diagnosis","qualifier_ui":"Q000517","qualifier_name":"prevention & control","is_major_topic":false},{"descriptor_ui":"D062069","descriptor_name":"Inventions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:25095608","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25095608","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":"Harefuah","raw_type":"Journal Article"},{"id":"mag:21533689","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25095608","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1596438740","https://openalex.org/W1647075334","https://openalex.org/W1935326600","https://openalex.org/W1968202919","https://openalex.org/W1971910567","https://openalex.org/W1972937465","https://openalex.org/W1974402095","https://openalex.org/W1991251008","https://openalex.org/W2004632808","https://openalex.org/W2011518477","https://openalex.org/W2018066181","https://openalex.org/W2043571322","https://openalex.org/W2049207521","https://openalex.org/W2065725400","https://openalex.org/W2074905365","https://openalex.org/W2096818569","https://openalex.org/W2104375529","https://openalex.org/W2107511340","https://openalex.org/W2112167962","https://openalex.org/W2117147910","https://openalex.org/W2124566510","https://openalex.org/W2128635872","https://openalex.org/W2136643521","https://openalex.org/W2167878665","https://openalex.org/W2211959203","https://openalex.org/W2354977637","https://openalex.org/W4286854152"],"related_works":["https://openalex.org/W2077833546","https://openalex.org/W4206068796","https://openalex.org/W2009578168","https://openalex.org/W2156961624","https://openalex.org/W2026649568","https://openalex.org/W2111358853","https://openalex.org/W2187679011","https://openalex.org/W4281626587","https://openalex.org/W4408777423","https://openalex.org/W2582738472"],"abstract_inverted_index":{"Klinefetter":[0],"syndrome":[1,27],"is":[2,68,161],"one":[3],"of":[4,10,18,43,72,96,113,124,134,144,167],"the":[5,14,23,26,41,73,94,116,125,141,147,168],"most":[6,15],"common":[7,16],"genetic":[8],"causes":[9,28],"male":[11],"infertility":[12,24],"and":[13,39,50,62,79,87,103,146,156],"cause":[17],"primary":[19,83],"testicular":[20,154],"failure.":[21],"Beside":[22],"issue,":[25],"decreases":[29],"in":[30,36,76],"bone":[31],"mass,":[32],"muscle":[33],"wasting,":[34],"decline":[35],"cognitive":[37],"ability":[38],"increases":[40],"risk":[42],"diseases":[44],"such":[45],"as":[46,130],"diabetes":[47],"mellitus,":[48],"cancer":[49],"cardiovascular":[51],"diseases.":[52],"Most":[53],"men":[54,118,169],"are":[55],"diagnosed":[56],"late":[57,100],"when":[58],"fertility":[59,108],"problems":[60],"arise":[61],"some":[63],"even":[64,105],"remain":[65],"undiagnosed.":[66],"It":[67],"probably":[69],"emerging":[70],"because":[71],"significant":[74],"differences":[75],"clinical":[77],"appearance":[78],"low":[80],"\"awareness\"":[81],"among":[82],"doctors.":[84],"Early":[85],"diagnosis":[86],"hormone":[88],"replacement":[89],"therapy":[90],"can":[91],"significantly":[92],"improve":[93],"quality":[95],"patients":[97],"lives,":[98],"reduce":[99],"health":[101],"complications,":[102],"may":[104],"preserve":[106],"their":[107],"for":[109],"a":[110],"longer":[111],"period":[112],"time.":[114],"In":[115],"past,":[117],"with":[119,140,153],"this":[120,172],"syndrome,":[121],"especially":[122],"those":[123],"non-mosaic":[126],"type,":[127],"were":[128],"considered":[129],"having":[131],"no":[132],"chance":[133],"becoming":[135],"biological":[136],"fathers.":[137],"However":[138],"today,":[139],"technoLogical":[142],"development":[143],"IVF":[145],"ICSI":[148],"(intracytoplasmatic":[149],"sperm":[150,157],"injectioni,":[151],"together":[152],"biopsies":[155],"extractions":[158],"(TESE),":[159],"it":[160],"possible":[162],"to":[163],"help":[164],"over":[165],"50%":[166],"who":[170],"have":[171],"syndrome.":[173]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}