{"id":"https://openalex.org/W2394785853","doi":null,"title":"Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.","display_name":"Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.","publication_year":1999,"publication_date":"1999-07-01","ids":{"openalex":"https://openalex.org/W2394785853","mag":"2394785853","pmid":"https://pubmed.ncbi.nlm.nih.gov/10456179"},"language":"en","primary_location":{"id":"pmid:10456179","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10456179","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":"Annales d'endocrinologie","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/A5002379637","display_name":"Janet Elizabeth Hall","orcid":"https://orcid.org/0000-0003-4644-3061","observed_orcids":["https://orcid.org/0000-0003-4644-3061"]},"institutions":[{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"J E Hall","raw_affiliation_strings":["Reproductive Endocrine Unit, Massachusetts General Hospital, Boston 02114, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reproductive Endocrine Unit, Massachusetts General Hospital, Boston 02114, USA","institution_ids":["https://openalex.org/I4210087915"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5002379637"],"corresponding_institution_ids":["https://openalex.org/I4210087915"],"apc_list":null,"apc_paid":null,"fwci":0.4165,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.59895237,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"60","issue":"2","first_page":"93","last_page":"101"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10960","display_name":"Hypothalamic control of reproductive hormones","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10960","display_name":"Hypothalamic control of reproductive hormones","score":1.0,"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"}},{"id":"https://openalex.org/T10748","display_name":"Growth Hormone and Insulin-like Growth Factors","score":0.0,"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/T10832","display_name":"Pituitary Gland Disorders and Treatments","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hypogonadotropic-hypogonadism","display_name":"hypogonadotropic hypogonadism","score":0.9959999918937683},{"id":"https://openalex.org/keywords/gnrh-deficiency","display_name":"GnRH deficiency","score":0.9110000133514404},{"id":"https://openalex.org/keywords/gonadotropin-releasing-hormone","display_name":"gonadotropin-releasing hormone","score":0.8629999756813049},{"id":"https://openalex.org/keywords/hypothalamic-pituitary-gonadal-axis","display_name":"hypothalamic-pituitary-gonadal axis","score":0.8360000252723694},{"id":"https://openalex.org/keywords/kallmann-syndrome","display_name":"Kallmann syndrome","score":0.8650000095367432},{"id":"https://openalex.org/keywords/anosmia","display_name":"anosmia","score":0.9739999771118164},{"id":"https://openalex.org/keywords/genetic-inheritance","display_name":"genetic inheritance","score":0.5339999794960022},{"id":"https://openalex.org/keywords/puberty","display_name":"puberty","score":0.3440000116825104},{"id":"https://openalex.org/keywords/infertility-treatment","display_name":"infertility treatment","score":0.5649999976158142},{"id":"https://openalex.org/keywords/hormone-replacement-therapy","display_name":"hormone replacement therapy","score":0.8519999980926514}],"concepts":[{"id":"https://openalex.org/C2781255401","wikidata":"https://www.wikidata.org/wiki/Q1641332","display_name":"Hypogonadotropic hypogonadism","level":3,"score":0.9640333652496338},{"id":"https://openalex.org/C2777239080","wikidata":"https://www.wikidata.org/wiki/Q1165179","display_name":"Kallmann syndrome","level":5,"score":0.9513882398605347},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.7298380732536316},{"id":"https://openalex.org/C2777423934","wikidata":"https://www.wikidata.org/wiki/Q5961220","display_name":"Hypothalamic disease","level":4,"score":0.722184419631958},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6912268996238708},{"id":"https://openalex.org/C2779926200","wikidata":"https://www.wikidata.org/wiki/Q468433","display_name":"Anosmia","level":5,"score":0.6632245182991028},{"id":"https://openalex.org/C2778894405","wikidata":"https://www.wikidata.org/wiki/Q318896","display_name":"Gonadotropin-releasing hormone","level":4,"score":0.5587866902351379},{"id":"https://openalex.org/C2776354409","wikidata":"https://www.wikidata.org/wiki/Q1516012","display_name":"Delayed puberty","level":3,"score":0.5331750512123108},{"id":"https://openalex.org/C2779067335","wikidata":"https://www.wikidata.org/wiki/Q1337712","display_name":"Median eminence","level":3,"score":0.4933599531650543},{"id":"https://openalex.org/C2777003273","wikidata":"https://www.wikidata.org/wiki/Q164386","display_name":"Hypothalamus","level":2,"score":0.48532646894454956},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4499005079269409},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4229726493358612},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.2409522831439972},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.22311249375343323},{"id":"https://openalex.org/C2778575703","wikidata":"https://www.wikidata.org/wiki/Q50265477","display_name":"Luteinizing hormone","level":3,"score":0.1334535777568817},{"id":"https://openalex.org/C3008058167","wikidata":"https://www.wikidata.org/wiki/Q84263196","display_name":"Coronavirus disease 2019 (COVID-19)","level":4,"score":0.0},{"id":"https://openalex.org/C524204448","wikidata":"https://www.wikidata.org/wiki/Q788926","display_name":"Infectious disease (medical specialty)","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007006","descriptor_name":"Hypogonadism","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D007006","descriptor_name":"Hypogonadism","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D007006","descriptor_name":"Hypogonadism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007006","descriptor_name":"Hypogonadism","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D007987","descriptor_name":"Gonadotropin-Releasing Hormone","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D007987","descriptor_name":"Gonadotropin-Releasing Hormone","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007987","descriptor_name":"Gonadotropin-Releasing Hormone","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011627","descriptor_name":"Puberty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:10456179","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10456179","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":"Annales d'endocrinologie","raw_type":"Journal Article"},{"id":"mag:2394785853","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10456179","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1989234389","https://openalex.org/W1979545393","https://openalex.org/W4232048154","https://openalex.org/W169123950","https://openalex.org/W2040739419","https://openalex.org/W7100761253","https://openalex.org/W2246654375","https://openalex.org/W1964185512","https://openalex.org/W2111760800","https://openalex.org/W4230106825"],"abstract_inverted_index":{"Initiation":[0],"and":[1,97,118,128,149,168,192,200,272,275],"maintenance":[2],"of":[3,12,29,31,43,56,73,80,83,87,107,125,155,171,178,221,238,245,265,278],"reproductive":[4],"capacity":[5],"is":[6,50,98,248,268],"contingent":[7],"upon":[8],"the":[9,17,27,32,41,46,54,57,70,84,88,105,123,141,153,190,194,197,201,207,236,239,263,270,276],"pulsatile":[10],"secretion":[11,36,75],"gonadotropin-releasing":[13],"hormone":[14,255],"(GnRH)":[15],"from":[16],"hypothalamus.":[18,89],"While":[19,212],"GnRH":[20,35,59,74,102,158,187,202,210,240,246],"deficiency":[21,60,103,159,188,247],"manifests":[22],"itself":[23],"clinically":[24],"as":[25,283,287],"hypogonadism,":[26],"time":[28],"onset":[30,42],"defect":[33],"in":[34,104,140,146,175,184,189,262,269],"(i.e.":[37],"before":[38],"or":[39,78,110,257],"after":[40],"puberty)":[44],"determines":[45],"clinical":[47],"presentation":[48],"that":[49,67,281],"further":[51],"modified":[52],"by":[53,100],"severity":[55],"defect.":[58],"can":[61,137],"be":[62,138,161],"associated":[63],"with":[64,69,115,130,186],"structural":[65],"lesions":[66],"interfere":[68],"normal":[71,131],"pattern":[72],"through":[76],"compression":[77],"destruction":[79],"critical":[81],"areas":[82],"median":[85],"eminence":[86],"Idiopathic":[90],"hypogonadotropic":[91,116],"hypogonadism":[92,117],"(IHH)":[93],"has":[94],"been":[95,121,182],"described":[96],"characterized":[99],"isolated":[101],"absence":[106],"a":[108,176,218],"hypothalamic":[109],"pituitary":[111],"lesion.":[112],"Typically,":[113],"patients":[114],"anosmia":[119],"have":[120,180],"given":[122],"diagnosis":[124,274],"Kallmann's":[126],"syndrome":[127],"those":[129],"olfaction,":[132],"IHH.":[133],"However,":[134],"both":[135],"entities":[136],"present":[139],"same":[142],"family,":[143],"demonstrating":[144],"variability":[145],"phenotypic":[147],"expression":[148],"raising":[150],"questions":[151],"about":[152],"usefulness":[154],"this":[156],"distinction.":[157],"may":[160],"inherited":[162],"via":[163],"autosomal":[164,166],"dominant,":[165],"recessive":[167],"X-linked":[169],"modes":[170],"inheritance.":[172],"Specific":[173],"defects":[174],"number":[177],"genes":[179],"now":[181],"found":[183],"association":[185],"human":[191],"including":[193],"KAL":[195],"gene,":[196,204],"DAX":[198],"gene":[199,208],"receptor":[203],"but":[205,232],"not":[206,225],"encoding":[209],"itself.":[211],"these":[213,266],"mutations":[214],"account":[215],"for":[216,229,253,258],"only":[217,226],"small":[219],"fraction":[220],"cases,":[222],"genetic":[223],"studies":[224],"provide":[227],"promise":[228],"future":[230],"treatment,":[231],"also":[233],"insights":[234],"into":[235],"complexity":[237],"neuronal":[241],"system.":[242],"The":[243,260],"treatment":[244,264],"highly":[249],"successful":[250],"whether":[251],"designed":[252],"steroid":[254],"replacement":[256,279],"fertility.":[259],"challenge":[261],"abnormalities":[267],"early":[271],"accurate":[273],"use":[277],"therapies":[280],"are":[282],"close":[284],"to":[285],"physiologic":[286],"possible.":[288]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}