{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:07:53Z","timestamp":1791198473888,"version":"4.1.0"},"reference-count":58,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":6696,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The frequency of Kallmann syndrome (hypogonadotropic hypogonadism and anosmia, HHA) was estimated in patients presenting with hypogonadism and patients with anosmia. Of 791 hypogonadal males 19 had HHA. The frequency of IIHA was about 1:25 (n = 8\/189) in outpatients questioned about their sense of smell, about 1:50 (n = 11\/579) in patients whose blood samples were sent to us for chromosome analysis, and about 1:30 (n = 19\/605) in males with hypogonadism and 46,XY chromosomes. The relation of patients with HHA to those with Klinefelter syndrome was 1:10 (n = 19\/186). From 24 patients presenting with anosmia we found 1 hitherto undiagnosed case of HHA. The mean age at diagnosis was 24.8 and 24.9 years in our cases and cases from literature, respectively. These data provide evidence that Kallmann syndrome is not infrequent and that most patients remain undiagnosed until the third decade of life. Earlier diagnosis is emphasized by questioning each hypogonadal patient about his sense of smell because therapeutic success seems to be age dependent.<\/jats:p>","DOI":"10.1002\/ajmg.1320260226","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:46:36Z","timestamp":1118544396000},"page":"473-479","source":"Crossref","is-referenced-by-count":27,"title":["Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients"],"prefix":"10.1002","volume":"26","author":[{"given":"I. Harry","family":"Pawlowitzki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Diekstall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Schadel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Miny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"328","volume-title":"Textbook of Endocrinology","author":"Bardin CW","year":"1968"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106170"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-36-4-791"},{"key":"e_1_2_1_5_1","first-page":"246","article-title":"Familial idiopathic hypogonadotrophic hypogonadism","volume":"84","author":"Betend B","year":"1977","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_6_1","first-page":"83","article-title":"La displasia olfacto \u2010 Genitale di De Morsier. A proposito di 5 casi femminili ed 1 maschile","volume":"2","author":"Borghi A","year":"1970","journal-title":"Acta Med Auxol II\u2010"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-71-6-1127"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-43-6-1268"},{"key":"e_1_2_1_9_1","first-page":"232","article-title":"Famili\u00e4rer Hypogonadismus mit Anosmie: Kallmann Syndrom","volume":"131","author":"Br\u00e4mswig HJ","year":"1983","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(79)90799-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-51-1-173"},{"key":"e_1_2_1_12_1","first-page":"5","article-title":"Das Kallmann Syndrom. Beitragzur endokrinologischurologischen Differential diagnostik","volume":"3","author":"Diekstall P","year":"1986","journal-title":"Niere, Blase, Prostata aktwell"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016487709128827"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3999(81)90029-5"},{"key":"e_1_2_1_15_1","first-page":"165","volume-title":"Brain and Pituitary Peptides II","author":"Happ J","year":"1982"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.42.491.572"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-61-2-255"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-49-4-652"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150316"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(75)90924-2"},{"key":"e_1_2_1_21_1","first-page":"386","article-title":"Psychiatric problems in the treatment of eunuchoidism","volume":"47","author":"Kallmann FJ","year":"1943","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_22_1","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1016\/0002-9378(80)91062-5","article-title":"Cardiac abnormalities in female hypogonadotrophic hypogonadism with anosmia","volume":"136","author":"Kemman E","year":"1980","journal-title":"Am J Obstet Gynecol"},{"issue":"253","key":"e_1_2_1_23_1","first-page":"31","article-title":"Induction of puberty in patients with Kallmann's syndrome","volume":"102","author":"Klingm\u00fcller D","year":"1983","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1013542"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-51-5-1214"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(82)90329-1"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.131.4.501"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.239.13"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1977.02120240034007"},{"key":"e_1_2_1_30_1","first-page":"700","volume-title":"Fertilit\u00e4tsst\u00f6rungen des Mannes. Innere Medizin und Chirurgie","author":"Meyhofer W","year":"1981"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(15)33487-6"},{"key":"e_1_2_1_32_1","first-page":"137","article-title":"Die olfacto\u2010genitale Dysplasie","volume":"158","author":"Muller P","year":"1964","journal-title":"Gynaecologica"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/232496a0"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1439-0272.1979.tb02187.x"},{"key":"e_1_2_1_35_1","first-page":"53","article-title":"Genetic aspects in male hypogonadism","volume":"17","author":"Nowakowski H","year":"1961","journal-title":"Recent Prog Horm Res"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-51-2-275"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-36-1-47"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-36-1-55"},{"key":"e_1_2_1_39_1","first-page":"878","article-title":"Zur Klinik des Kallmann Syndroms","volume":"52","author":"Schaupp H","year":"1973","journal-title":"Z Laryng Rhinol"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-31-3-267"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-52-5-929"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)44484-5"},{"key":"e_1_2_1_43_1","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1001\/archinte.1968.03640060048009","article-title":"Familial hypogonadotrophic hypogonadism with anosmia","volume":"121","author":"Sparkes RS","year":"1968","journal-title":"Arch Intern Med"},{"key":"e_1_2_1_44_1","first-page":"847","article-title":"Hypogonadotropher hypogonadismus mit anosmie (Kallmann syndrom)","volume":"162","author":"Stolp A","year":"1976","journal-title":"Derm Mscar"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80438-9"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197012102832407"},{"key":"e_1_2_1_47_1","first-page":"413","volume-title":"Klinische Pathophysiologie","author":"Tamm J","year":"1982"},{"key":"e_1_2_1_48_1","first-page":"739","article-title":"Funktionelle endokrinologische Untersuchungen beim Kallmann'schen Syndrom","volume":"52","author":"T\u00f6r\u00f6k L","year":"1977","journal-title":"Z Hautkr"},{"key":"e_1_2_1_49_1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1177\/003591577406700120","article-title":"Cryptoorchidism in a family with Kallmann's syndrome","volume":"67","author":"Turner RC","year":"1974","journal-title":"Proc Roy Soc Med"},{"key":"e_1_2_1_50_1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/S0015-0282(16)44187-7","article-title":"Dissociation of prolactin responsiveness to thyreotropin\u2010releasing hormone and chlorpromazine in a female with Kallmann's syndrome","volume":"32","author":"Turksoy RN","year":"1979","journal-title":"Fertil Steril"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.1.30"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-51-6-1269"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00344.x"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1069209"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150307"},{"key":"e_1_2_1_56_1","first-page":"63","article-title":"Endocrinological studies in patients with Kallmann's syndrome","volume":"152","author":"Wiegelmann W","year":"1971","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)45991-1"},{"key":"e_1_2_1_58_1","first-page":"245","article-title":"Hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome)","volume":"226","author":"Yalaburgi SB","year":"1982","journal-title":"Practitioner"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-36-3-612"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260226","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T05:11:23Z","timestamp":1697865083000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,2]]},"references-count":58,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,2]]}},"alternative-id":["10.1002\/ajmg.1320260226"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260226","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,2]]}}}