{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T20:55:37Z","timestamp":1773089737891,"version":"3.50.1"},"reference-count":17,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,2]]},"abstract":"<jats:p>A case of Kallmann's syndrome in a male is reported. Besides the classical picture of hypogonadotrophic hypogonadism (demonstrated both by endocrine investigation and a testicular biopsy) with anosmia, a number of other unusual features are present including gynaecomastia, agencies of the anterior brachial muscles, some dental abnormalities, and dyschromatopsy. The karyotype, studied on peripheral lymphocytes, shows, in the propositus as well as in his mother, the presence in all mitoses of an extra small metacentric chromosome; its derivation is uncertain.<\/jats:p>","DOI":"10.1136\/jmg.13.1.71","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"71-75","source":"Crossref","is-referenced-by-count":16,"title":["A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+)."],"prefix":"10.1136","volume":"13","author":[{"given":"V","family":"Ventruto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Farina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Festa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Ricciardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Sebastio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,2,1]]},"reference":[{"key":"ref_1","first-page":"180","article-title":"Displasia olfatto-genitale: presentazione di un caso con oligofrenia e ginecomastia","volume":"82","author":"Carfagna, M.; Cocco, U.; Filippis, V.de; Mattioli, P.L.; Porcellini, M.","year":"1968","unstructured":"Carfagna, M., Cocco, U., Filippis, V. de, Mattioli, P. L., and Porcellini, M. (1968). Displasia olfatto-genitale: presentazione di un caso con oligofrenia e ginecomastia. Riforma Medica, 82, Suppl. II, 180-183.","journal-title":"Riforma Medica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1136\/jmg.8.3.381","article-title":"An extra small metacentric chromosome in association with multiple congenital abnormalities","volume":"8","author":"Finley, W.H.; Finley, S.C.; Monsky, D.","year":"1971","unstructured":"Finley, W. H., Finley, S. C., and Monsky, D. (1971). An extra small metacentric chromosome in association with multiple congenital abnormalities. Journal of Medical Genetics, 8, 381-383.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","first-page":"78","article-title":"Olfactory status and response to Clomiphene in male gonadotropin deficiency","author":"Hamilton, Jr., C.R.; Henkin, R.I.; Weir, G.; Kliman, B.","year":"1973","unstructured":"Hamilton, C. R., Jr., Henkin, R. I., Weir, G., and Kliman, B. (1973). Olfactory status and response to Clomiphene in male gonadotropin deficiency. Annals of Internal Medicine, 78,47-55.","journal-title":"Annals of Internal Medicine"},{"key":"ref_4","first-page":"22","article-title":"Extra minute chromosome in somatic and germ-line cells of the same person","volume":"2","author":"Hulten, M.; Lindsten, J.; Fraccaro, M.; Mannini, A.; Tiepolo, L.","year":"1966","unstructured":"Hulten, M., Lindsten, J., Fraccaro, M., Mannini, A., and Tiepolo, L. (1966). Extra minute chromosome in somatic and germ-line cells of the same person. Lancet, 2, 22-24.","journal-title":"Lancet"},{"key":"ref_5","first-page":"203","article-title":"The genetic aspect of primary eunuchoidism","volume":"48","author":"Kallmann, F.J.; Schonfeld, W.A.; Barrera, S.E.","year":"1944","unstructured":"Kallmann, F. J., Schonfeld, W. A., and Barrera, S. E. (1944). The genetic aspect of primary eunuchoidism. American J7ournal of Mental Deficiency, 48, 203-236.","journal-title":"American J7ournal of Mental Deficiency"},{"key":"ref_6","article-title":"Mendelian Inheritance in Man","author":"McKusick, V.A.","year":"1971","unstructured":"McKusick, V. A. (1971). Mendelian Inheritance in Man, 3rd ed.","edition":"3rd ed"},{"key":"ref_7","first-page":"309","article-title":"Etudes sur les dysraphies cranio-encephalliques. I. Agenesie des lobes olfactifs (telencephaloschizis lat6ral), et des Commissures calleuse et auterieure (telenchephaloschizis median). La dysplasie olfacto-genitale","volume-title":"Schweizer","volume":"74","author":"Morsier, G.; de","year":"1954","unstructured":"Morsier, G., de (1954). Etudes sur les dysraphies cranio-encephalliques. I. Agenesie des lobes olfactifs (telencephaloschizis lat6ral), et des Commissures calleuse et auterieure (telenchephaloschizis median). La dysplasie olfacto-genitale. Schweizer Archiv fur Neurologie und Psychiatrie, 74, 309-361."},{"key":"ref_8","first-page":"232","article-title":"Effect of purified luteinizing hormone releasing factor on normal and hypogonadotropic anosmic men","author":"Naftolin, F.G.; Harris, G.W.; Bobrow, M.","year":"1971","unstructured":"Naftolin, F. G., Harris, G. W., and Bobrow, M. (1971). Effect of purified luteinizing hormone releasing factor on normal and hypogonadotropic anosmic men. Nature, 232,496-497.","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1210\/jcem-36-1-47","article-title":"Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance","volume":"36","author":"Santen, R.J.; Paulsen, C.A.","year":"1973","unstructured":"Santen, R. J. and Paulsen, C. A. (1973). Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. Journal of Clinical Endocrinology and Metabolism, 36, 47-54.","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1159\/000129858","article-title":"A familial centric chromosomic fragment","volume":"4","author":"Smith, K.D.; Steinberger, E.; Steinberger, A.; Perloff, W.","year":"1965","unstructured":"Smith, K. D., Steinberger, E., Steinberger, A., and Perloff, W. (1965). A familial centric chromosomic fragment. Cytogenetics, 4, 219-226.","journal-title":"Cytogenetics"},{"key":"ref_11","first-page":"1624","article-title":"Frammento cromosomico metacentrico soprannumerario in psoriasico fenotipicamente normale (47, XY, ? +)","volume":"64","author":"Ventruto, V.; Rossi, A.; Sebastio, L.","year":"1973","unstructured":"Ventruto, V., Rossi, A., and Sebastio, L. (1973). Frammento cromosomico metacentrico soprannumerario in psoriasico fenotipicamente normale (47,XY, ? +). Minerva Medica, 64, 1624-1632.","journal-title":"Minerva Medica"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1210\/jcem-36-3-612","article-title":"Effect of synthetic luteinizing hormone-releasing hormone (LH-RH) in two brothers with hypogonadotropic hypogonadism with anosmia","volume":"36","author":"Zarate, A.; Kastin, A.J.; Soria, J.; Canales, E.S.; Schally, A.V.","year":"1973","unstructured":"Zarate, A., Kastin, A. J., Soria, J., Canales, E. S., and Schally, A. V. (1973). Effect of synthetic luteinizing hormone-releasing hormone (LH-RH) in two brothers with hypogonadotropic hypogonadism with anosmia. J'ournal of Clinical Endocrinology and Metabolism, 36, 612-614.","journal-title":"J'ournal of Clinical Endocrinology and Metabolism"},{"key":"ref_13","article-title":"It is rare for signs of Huntington's disease to appear in offspring before it manifests itself in one of the living parents. When such a case occurs, it is reasonable to suspect a mutation. Because of the possibility of very late onset of symptoms, few cases have been reported in which the parents of the alleged mutant are both alive. For such reasons, Reed and","year":"1959","unstructured":"It is rare for signs of Huntington's disease to appear in offspring before it manifests itself in one of the living parents. When such a case occurs, it is reasonable to suspect a mutation. Because of the possibility of very late onset of symptoms, few cases have been reported in which the parents of the alleged mutant are both alive. For such reasons, Reed and Neel (1959) do not believe that specific instances of mutation in the disorder can be demon-","journal-title":"Neel; do not believe that specific instances of mutation in the disorder can be demon"},{"key":"ref_14","article-title":"It follows that an accurate estimate of the very low mutation rate is impossible until present diagnostic techniques improve","author":"strated","year":"1973","unstructured":"strated. It follows that an accurate estimate of the very low mutation rate is impossible until present diagnostic techniques improve. Palm (1973) has briefly reviewed the evidence against the gene being maintained in the population by new mutations.","journal-title":"Palm; has briefly reviewed the evidence against the gene being maintained in the population by new mutations"},{"key":"ref_15","article-title":"The propositus was born in a village in Calabria, Italy, in 1935. At the age of 34 years, he began to develop involuntary movements. He was at that time a successful restaurant and store owner and was a highly respected migrant in a small town near Melbourne. The movements began first in his right leg and later spread to his abdomen, right arm, head, neck, and shoulders. These symptoms were followed by increasing defects in memory and inability to carry on the conduct of his business. He took up employment in a real estate agency and over a period of some 14 months deteriorated to a packer in a vegetable market. For 12 months before presentation early in 1973, he was unemployed","unstructured":"The propositus was born in a village in Calabria, Italy, in 1935. At the age of 34 years, he began to develop involuntary movements. He was at that time a successful restaurant and store owner and was a highly respected migrant in a small town near Melbourne. The movements began first in his right leg and later spread to his abdomen, right arm, head, neck, and shoulders. These symptoms were followed by increasing defects in memory and inability to carry on the conduct of his business. He took up employment in a real estate agency and over a period of some 14 months deteriorated to a packer in a vegetable market. For 12 months before presentation early in 1973, he was unemployed."},{"key":"ref_16","article-title":"There is no family history of Huntington's disease. His father was born in 1911 and his mother was born in 1913, both being of Calabrian descent. The propositus has four sibs, being younger sisters bom in 1936, 1937, 1942, and 1947. Inquiries were made into the extended family and in the village. Within living memory, there was no recollection of anyone with similar symptoms part from a female second cousin who, at the age of 12 years, developed rheumatic fever and subsequently suffered from Sydenham's chorea, but had had no recurrence of choreiform symptoms","unstructured":"There is no family history of Huntington's disease. His father was born in 1911 and his mother was born in 1913, both being of Calabrian descent. The propositus has four sibs, being younger sisters bom in 1936, 1937, 1942, and 1947. Inquiries were made into the extended family and in the village. Within living memory, there was no recollection of anyone with similar symptoms part from a female second cousin who, at the age of 12 years, developed rheumatic fever and subsequently suffered from Sydenham's chorea, but had had no recurrence of choreiform symptoms."},{"key":"ref_17","article-title":"For a mutation to be acceptable, Stevens and Parsonage","volume-title":"have laid down four criteria: (i) The disease being investigated must have the cardinal features of Huntington's disease-namely","year":"1969","unstructured":"For a mutation to be acceptable, Stevens and Parsonage (1969) have laid down four criteria: (i) The disease being investigated must have the cardinal features of Huntington's disease-namely,"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.1.71","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:38:29Z","timestamp":1759721909000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.1.71"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,2]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1976,2,1]]},"published-print":{"date-parts":[[1976,2]]}},"alternative-id":["10.1136\/jmg.13.1.71"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.1.71","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1976,2]]}}}