{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:00:56Z","timestamp":1790974856186,"version":"4.1.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8007,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Among 18 NIH probands with anosmia and hypogonadotropic hypogonadism (AHH), seven had affected relatives and three had consanguineous parents. Both sexes were equally affected and parents were phenotypically normal. Parental age was not increased. Cleft lip and palate occurred in both eugonadal and hypogonadal persons, a previously reported association that may represent variable expression of AHH. Diabetes mellitus, usually insulin\u2010dependent, was frequent in probands and their families. Other common traits included obesity, cryptorchidism, and hearing loss. All probands were chromosomally normal. The frequency of some dermatoglyphic traits of probands differed from normal, but no trait was unique to AHH.<\/jats:p><jats:p>Segregation analysis of our proband sibships was consistent with a hypothesis of autosomal\u2010recessive inheritance with variable expression. However, genetic heterogenety was apparent when previous reports of familial AHH were surveyed. An X\u2010linked or male sex\u2010limited autosomal\u2010dominant form with unilateral renal agenesis, mental retardation, and hypotelorism has been observed. The infrequent reports of direct male\u2010to\u2010male transmissionn limit characterization of an autosomal\u2010dominant form of AHH.<\/jats:p><jats:p>Our phenotypic analysis suggests that the traits of mental retardation, renal anomalies, hypotelorism, diabetes, and hearing loss may help to distinguish various forms of AHH, whereas cryptorchidism, clefts, and obesity appear in several types of families. At present, genetic counseling is dependent upon establishing inheritance pattern after examination for the known associated anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.1320150307","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:52:39Z","timestamp":1118515959000},"page":"417-435","source":"Crossref","is-referenced-by-count":92,"title":["The syndrome of anosmia with hypogonadotropic hypogonadism: A genetic study of 18 new families and a review"],"prefix":"10.1002","volume":"15","author":[{"given":"Beverly J.","family":"White","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan D.","family":"Rogol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth S.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey M.","family":"Lieblich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saul W.","family":"Rosen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"187","article-title":"Discriminatory analysis of dermatoglyphics of hypogonadism","volume":"21","author":"Asaka A","year":"1976","journal-title":"Jpn J Hum Genet"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106170"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(70)90586-0"},{"key":"e_1_2_1_5_2","series-title":"Birth Defects: Original Article Series VII: No. 6","first-page":"166","volume-title":"Hypogonadotropic hypogonadism with anosmia: The Kallmann syndrome","author":"Christian JC","year":"1971"},{"key":"e_1_2_1_6_2","first-page":"841","article-title":"Etudes clinique biologique, histologique et g\u00e9n\u00e9tique du syndrome de De Morsier (hypogonadisme hypogonadotrophique avec anosmie). 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