{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T18:00:51Z","timestamp":1774980051454,"version":"3.50.1"},"reference-count":29,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:p>Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life. Defects in both the insulin receptor and postreceptor steps of the insulin action pathway have been reported. At the molecular level, several mutations have been described. The patients reported here are from a Yemeni family with a syndrome of insulin resistance similar to leprechaunism in which the parents are second cousins and five of their eight children are affected. However, the phenotypes seem to be less severe than the classical leprechaunism previously described. All the children are alive (oldest 11 years), there is normal subcutaneous tissue, and a normal growth pattern in some of them. It may be that this is a milder type of leprechaunism with a better prognosis, perhaps caused by a different type of mutation from those previously described.<\/jats:p>","DOI":"10.1136\/jmg.30.6.470","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"470-475","source":"Crossref","is-referenced-by-count":34,"title":["A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents."],"prefix":"10.1136","volume":"30","author":[{"given":"L I","family":"al-Gazali","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Devadas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,6,1]]},"reference":[{"key":"ref_1","first-page":"505","article-title":"Leprechaunism. J7 Pediatr","volume":"45","author":"Donohue, W.L.; Uchida, I.","year":"1954","unstructured":"Donohue WL, Uchida I. Leprechaunism. J7 Pediatr 1954;45:505-19."},{"key":"ref_2","first-page":"170","article-title":"A case of leprechaunism with severe hyperinsulinemia","volume":"134","author":"Rosenberg, A.; Haworth, J.; Degroot, W.; Trerenen, C.; Rechler, M.","year":"1980","unstructured":"Rosenberg A, Haworth J, Degroot W, Trerenen C, Rechler M. A case of leprechaunism with severe hyperinsulinemia. Am J Dis Child 1980;134:170-5.","journal-title":"Am J Dis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3469","DOI":"10.1073\/pnas.75.7.3469","article-title":"Insulin resistance due to a defect distal to the insulin receptor. Demonstrations in a patient with leprechaunism","volume":"75","author":"Kobayashi, M.; Olefsky, J.M.; Elders, J.","year":"1978","unstructured":"Kobayashi M, Olefsky JM, Elders J, et al. Insulin resistance due to a defect distal to the insulin receptor. Demonstrations in a patient with leprechaunism. Proc Natl Acad Sci USA 1978;75:3469-73.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/S0022-3476(48)80231-3","article-title":"Clinicopathologic conference at the Hospital for Sick Children on 'Dysendocrinism'","volume":"32","author":"Donohue, W.L.","year":"1948","unstructured":"Donohue WL. Clinicopathologic conference at the Hospital for Sick Children on 'Dysendocrinism'. J Pediatr 1948;32:739-48.","journal-title":"J Pediatr"},{"key":"ref_5","first-page":"221","article-title":"A rare polydysmorphic syndrome. Leprechaunism, review of forty nine cases reported in the literature","volume":"30","author":"Cantani, A.; Zirndo, M.G.; Tacooni, M.L.","year":"1987","unstructured":"Cantani A, Zirndo MG, Tacooni ML. A rare polydysmorphic syndrome. Leprechaunism, review of forty nine cases reported in the literature. Ann Genet (Paris) 1987;30:221-7.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1203\/00006450-198709000-00010","article-title":"Leprechaunism: in vitro insulin action despite genetic insulin resistance","volume":"22","author":"Geffner, M.; Kaplan, S.; Bersch, N.","year":"1987","unstructured":"Geffner M, Kaplan S, Bersch N, et al. Leprechaunism: in vitro insulin action despite genetic insulin resistance. Pediatr Res 1987;22:286-91.","journal-title":"Pediatr Res"},{"key":"ref_7","first-page":"205","article-title":"Leprechaunism: report of two cases and review","volume":"26","author":"Loan, D.; Dumitrin, L.; Belengeanu, V.; Bistriceanu, M.; Maximilian, C.","year":"1988","unstructured":"Loan D, Dumitrin L, Belengeanu V, Bistriceanu M, Maximilian C. Leprechaunism: report of two cases and review. Endocrinologie 1988;26:205-9.","journal-title":"Endocrinologie"},{"key":"ref_8","first-page":"73","article-title":"Leprechaunism: an inherited defect in a high affinity insulin receptor","volume":"37","author":"Elsas, L.J.; Endo, F.; Strumlauf, F.; Elders, J.; Priest, J.H.","year":"1985","unstructured":"Elsas LJ, Endo F, Strumlauf F, Elders J, Priest JH. Leprechaunism: an inherited defect in a high affinity insulin receptor. Am J Hum Genet 1985;37:73-88.","journal-title":"Am J Hum Genet"},{"issue":"60","key":"ref_9","first-page":"733","article-title":"Leprechaunism in a male infant","volume":"1962","author":"Patterson, J.H.; Watkin, W.L.","unstructured":"Patterson JH, Watkin WL. Leprechaunism in a male infant. J Pediatr 1962;60:733-9.","journal-title":"J Pediatr"},{"key":"ref_10","first-page":"614","article-title":"Leprechaunism (Donohue syndrome). Am.7 Clin Pathol","volume":"45","author":"Royers, DR","year":"1966","unstructured":"Royers DR. Leprechaunism (Donohue syndrome). Am.7 Clin Pathol 1966;45:614-19."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1136\/adc.40.214.632","article-title":"Metabolic and chromosomal studies in leprechaunism","volume":"40","author":"Dekaban, A.","year":"1965","unstructured":"Dekaban A. Metabolic and chromosomal studies in leprechaunism. Arch Dis Child 1965;40:632-6.","journal-title":"Arch Dis Child"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1976.tb00001.x","article-title":"A syndrome of generalised elastic fibre deficiency with leprechaunoid features. A distinct genetic disease with an autosomal recessive mode of inheritance","volume":"10","author":"Dallaire, L.; Cantin, M.; Melancon, S.B.","year":"1967","unstructured":"Dallaire L, Cantin M, Melancon SB. A syndrome of generalised elastic fibre deficiency with leprechaunoid features. A distinct genetic disease with an autosomal recessive mode of inheritance. Clin Genet 1967;10: 1-11.","journal-title":"Clin Genet"},{"key":"ref_13","first-page":"117","article-title":"Presentation of a patient with leprechaunism","volume-title":"Clinical delineation of birth defects. IV. Skeletal dysplasia","author":"Patterson, J.H.","year":"1969","unstructured":"Patterson JH. Presentation of a patient with leprechaunism. In: Bergsma D, ed. Clinical delineation of birth defects. IV. Skeletal dysplasia. Baltimore: William & Wilkins, 1969:117-21."},{"key":"ref_14","first-page":"294","article-title":"The Patterson syndrome, leprechaunism, and pseudo-leprechaunism..7 Med","volume":"18","author":"David, R.; Goodman, R.M.","year":"1981","unstructured":"David R, Goodman RM. The Patterson syndrome, leprechaunism, and pseudo-leprechaunism..7 Med Genet 1981;18:294-8.","journal-title":"Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"413","DOI":"10.2337\/diacare.14.5.413","article-title":"Glomerulopathy in a patient with Donohue syndrome (leprechaunism)","volume":"14","author":"Ellis, E.; Kemp, S.; Frindiks, J.P.; Elders, M.J.","year":"1991","unstructured":"Ellis E, Kemp S, Frindiks JP, Elders MJ. Glomerulopathy in a patient with Donohue syndrome (leprechaunism). Diabetes Care 1991;14:413-14.","journal-title":"Diabetes Care"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/dmr.5610010109","article-title":"Receptor defects in patients with extreme insulin resistance","volume":"1","author":"Taylor, S.I.","year":"1985","unstructured":"Taylor SI. Receptor defects in patients with extreme insulin resistance. Diabetes Metab Rev 1985;1:171-202.","journal-title":"Diabetes Metab Rev"},{"key":"ref_17","first-page":"428","article-title":"Phenotypic expression in Donohue syndrome: a role for epidermal growth factor","volume":"107","author":"Frindik, J.P.; Kemp, S.F.; Fiser, R.H.; Schedewi, H.; Elders, J.","year":"1985","unstructured":"Frindik JP, Kemp SF, Fiser RH, Schedewi H, Elders J. Phenotypic expression in Donohue syndrome: a role for epidermal growth factor. 7 Pediatr 1985;107:428-30."},{"key":"ref_18","first-page":"919","article-title":"Decreased insulin binding in cultured lymphocytes from two patients with extreme insulin resistance. _7 Clin Endocrinol Metab","volume":"54","author":"Taylor, S.I.; Samuels, B.; Roth, J.","year":"1982","unstructured":"Taylor SI, Samuels B, Roth J, et al. Decreased insulin binding in cultured lymphocytes from two patients with extreme insulin resistance. _7 Clin Endocrinol Metab 1982;54:919-30."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1016\/0026-0495(84)90092-1","article-title":"Mechanism of insulin resistance in cultured fibroblasts from a patient with leprechaunism, impaired post binding action of insulin and multiplications stimulating activity","volume":"33","author":"Griag, J.W.; Canner, J.; Locker, E.F.; Widon, B.; Elders, M.J.","year":"1984","unstructured":"Griag JW, Canner J, Locker EF, Widon B, Elders MJ. Mechanism of insulin resistance in cultured fibroblasts from a patient with leprechaunism, impaired post binding action of insulin and multiplications stimulating activity. Metabolism 1984;33:1084-96.","journal-title":"Metabolism"},{"key":"ref_20","first-page":"7157","article-title":"Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alteration","volume-title":"temperature and pH. Proc Natl Acad Sci","volume":"78","author":"Taylor, S.I.; Roth, J.; Blizzard, R.M.; Elders, M.J.","year":"1981","unstructured":"Taylor SI, Roth J, Blizzard RM, Elders MJ. Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alteration in temperature and pH. Proc Natl Acad Sci USA 1981;78:7157-61."},{"issue":"13","key":"ref_21","first-page":"257","article-title":"Mutations in insulin-receptor gene in insulin resistant patients","volume":"1990","author":"Taylor, S.I.; Kadowaki, T.; Kadowaki, H.; Accili, D.; Cama, A.; McKeon, C.","unstructured":"Taylor SI, Kadowaki T, Kadowaki H, Accili D, Cama A, McKeon C. Mutations in insulin-receptor gene in insulin resistant patients. Diabetes Care 1990,13:257-9.","journal-title":"Diabetes Care"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1172\/JCI114693","article-title":"Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance","volume":"86","author":"Kadowaki, T.; Kadowaki, H.; Rechler, M.","year":"1990","unstructured":"Kadowaki T, Kadowaki H, Rechler M, et al. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. Clin Invest 1990;86:254-64.","journal-title":"Clin Invest"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1126\/science.2834824","article-title":"Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance","volume":"240","author":"Kadowaki, T.; Bevin, C.; Cama, A.","year":"1988","unstructured":"Kadowaki T, Bevin C, Cama A, et al. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science 1988;240:787-90.","journal-title":"Science"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1172\/JCI110383","article-title":"Receptors for insulin like growth factor I are defective in fibroblasts cultured from a patient with leprechaunism","volume":"68","author":"E, Van Obberghen-Schilling; M, Rechler; J, Romanus; A, Knight; S, Nissley; R, Humbel","year":"1981","unstructured":"Van Obberghen-Schilling E, Rechler M, Romanus J, Knight A, Nissley S, Humbel R. Receptors for insulin like growth factor I are defective in fibroblasts cultured from a patient with leprechaunism. Clin Invest 1981;68:1356-65.","journal-title":"Clin Invest"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"541","DOI":"10.2337\/diab.32.6.541","article-title":"Parallel decrease in the expression of receptors for insulin and insulin like growth factor I in a mutant human fibroblast line","volume":"32","author":"Massagne, J.; Freidenberg, G.; Olefsky, J.; Czech, M.","year":"1983","unstructured":"Massagne J, Freidenberg G, Olefsky J, Czech M. Parallel decrease in the expression of receptors for insulin and insulin like growth factor I in a mutant human fibroblast line. Diabetes 1983;32:541-4.","journal-title":"Diabetes"},{"issue":"73","key":"ref_26","first-page":"27","article-title":"Insulin stimulates androgen accumulation in incubations of human ovarian stroma and theca","volume":"64","author":"Barbieri, R.L.; Makris, A.; Ryan, K.J.","year":"1984","unstructured":"Barbieri RL, Makris A, Ryan KJ. Insulin stimulates androgen accumulation in incubations of human ovarian stroma and theca. Obstet Gynecol 1984;64:73S-80S. 27 Breitweser JA, Meyer RA, Spesling MA, Tsang RC, Kaplan S. Cardiac septal hypertrophy in hyperinsulinemic infants. Pediatr 1980;90:535-9.","journal-title":"Obstet Gynecol; Cardiac septal hypertrophy in hyperinsulinemic infants"},{"key":"ref_27","first-page":"285","article-title":"Growth factor binding and bioactivity in human kidney epithelial cells cultures. In Vitro Cell Dev Biol","volume":"26","author":"Gansler, T.; Hsu, W.C.; Gramling, T.S.","year":"1990","unstructured":"Gansler T, Hsu WC, Gramling TS, et al. Growth factor binding and bioactivity in human kidney epithelial cells cultures. In Vitro Cell Dev Biol 1990;26:285-90."},{"issue":"325","key":"ref_28","first-page":"107","article-title":"Experimental research on IGF-1","volume":"1986","author":"Skottner, A.; Frykhind, C.; Hansson, H.A.","unstructured":"Skottner A, Frykhind C, Hansson HA. Experimental research on IGF-1. Acta Paediatr Scand Suppl 1986;325: 107-1 1.","journal-title":"Acta Paediatr Scand Suppl"},{"key":"ref_29","first-page":"99","article-title":"A case of leprechaunism with disorders of IGF-1\/somatomedin C binding proteins and its receptors","volume":"65","author":"Funakoshi, T.; Morikawa, H.; Yamasaki, A.","year":"1989","unstructured":"Funakoshi T, Morikawa H, Yamasaki A, et al. A case of leprechaunism with disorders of IGF-1\/somatomedin C binding proteins and its receptors. Nippon Naibunpi Gakkai Zasshi 1989;65:99-1 12 (English abstract).","journal-title":"Nippon Naibunpi Gakkai Zasshi"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.6.470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:16:34Z","timestamp":1760771794000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.6.470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":29,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1993,6,1]]},"published-print":{"date-parts":[[1993,6]]}},"alternative-id":["10.1136\/jmg.30.6.470"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.6.470","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}