{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:45:33Z","timestamp":1780353933469,"version":"3.54.1"},"reference-count":19,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,2]]},"abstract":"<jats:p>A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.<\/jats:p>","DOI":"10.1136\/jmg.15.1.63","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"63-66","source":"Crossref","is-referenced-by-count":18,"title":["Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome."],"prefix":"10.1136","volume":"15","author":[{"given":"F T","family":"Weber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Frias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"Julius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A H","family":"Felman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1978,2,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"a-fetoprotein and the prenatal diagnosis of central nervous system disorders","volume":"2","author":"Brock, D.J.H.","year":"1976","unstructured":"Brock, D. J. H. (1976) a-fetoprotein and the prenatal diagnosis of central nervous system disorders. Child's Brain, 2, 1-23.","journal-title":"Child's Brain"},{"key":"ref_2","first-page":"11","article-title":"Prenatal diagnosis of Meckel syndrome: alphafetoprotein and beta-trace protein in amniotic fluid","author":"Chemke, J.; Miskin, A.; Rav-Acha, Z.; Porath, A.; Sagiv, M.; Katz, Z.","year":"1977","unstructured":"Chemke, J., Miskin, A., Rav-Acha, Z., Porath, A., Sagiv, M., and Katz, Z. (1977). Prenatal diagnosis of Meckel syndrome: alphafetoprotein and beta-trace protein in amniotic fluid. Clinical Genetics, 11,285-289.","journal-title":"Clinical Genetics"},{"key":"ref_3","first-page":"1","article-title":"Alphafetoprotein in antenatal diagnosis of congenital nephrosis","author":"Kjessler, B.; Johansson, S.G.O.; Sherman, M.; Gustavson, K.H.; Hultquist, G.","year":"1975","unstructured":"Kjessler, B., Johansson, S. G. O., Sherman, M., Gustavson, K. H., and Hultquist, G. (1975). Alphafetoprotein in antenatal diagnosis of congenital nephrosis. Lancet, 1,432-433."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1111\/j.1471-0528.1975.tb00581.x","article-title":"Raised alphafetoprotein levels in amniotic fluid and materal serum in a triplet pregnancy in which one fetus had an omphalocele","volume":"82","author":"Nevin, N.C.; Armstrong, M.J.","year":"1975","unstructured":"Nevin, N. C., and Armstrong, M. J. (1975). Raised alphafetoprotein levels in amniotic fluid and materal serum in a triplet pregnancy in which one fetus had an omphalocele. British Journal ofObstetrics and Gynecology, 82, 826-828.","journal-title":"British Journal ofObstetrics and Gynecology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1111\/j.1471-0528.1974.tb00389.x","article-title":"Elevated amniotic fluid alpha-fetoprotein in congenital oesophageal atresia","volume":"81","author":"Seppala, M.; Laes, E.; Harvo-Noponen, M.","year":"1974","unstructured":"Seppala, M., Laes, E., and Harvo-Noponen, M. (1974). Elevated amniotic fluid alpha-fetoprotein in congenital oesophageal atresia. Journal of Obstetrics and Gynaecology of the British Commonwealth, 81, 827-828.","journal-title":"Journal of Obstetrics and Gynaecology of the British Commonwealth"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1136\/bmj.1.6052.16","article-title":"Fetal proteinuria in diagnosis of congenital nephrosis detected by raised alpha-fetoprotein in maternal serum","volume":"1","author":"Thom, H.; Johnstone, F.D.; Gibson, J.I.; Scott, G.B.; Noble, D.W.","year":"1977","unstructured":"Thom, H., Johnstone, F. D., Gibson, J. I., Scott, G. B., and Noble, D. W. (1977). Fetal proteinuria in diagnosis of congenital nephrosis detected by raised alpha-fetoprotein in maternal serum. British Medical Journal, 1, 16-18.","journal-title":"British Medical Journal"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/S0140-6736(75)90562-0","article-title":"Elevated amniotic fluid alpha-fetoprotein and duodenal atresia","volume":"2","author":"Weinberg, A.G.; Milunsky, A.; Harrod, M.J.","year":"1975","unstructured":"Weinberg, A. G., Milunsky, A., and Harrod, M. J. (1975). Elevated amniotic fluid alpha-fetoprotein and duodenal atresia, Lancet, 2, 496.","journal-title":"Lancet"},{"key":"ref_8","first-page":"697","article-title":"Origin of ammiotic fluid alpha-fetoprotein in normal and defective pregnancies","volume":"47","author":"Weiss, R.R.; Maori, J.N.; Elligers, K.W.","year":"1976","unstructured":"Weiss, R. R., Maori, J. N., and Elligers, K. W. (1976). Origin of ammiotic fluid alpha-fetoprotein in normal and defective pregnancies. Obstetrics and Gynecology, 47, 697-700.","journal-title":"Obstetrics and Gynecology"},{"key":"ref_9","article-title":"At age 28 his standing height, 138 cm (supine length 141 cm), was at the 50th centile for a 10-yearold; his head circumference, 53.5 cm, was at the 3rd centile for an adult. He had soft puffy cheeks, large normally formed ears, bilateral palpebral ptosis, depressed nasal bridge, and synophrys. The mean palpebral fissure length as measured from inner canthus to outer canthus was 2.65 cm according to the method of Smith","volume-title":"The mean palpebral fissure length over the age of 5 years is 2.5 cm. Heart, chest, and abdominal examinations were normal with the exception of bilateral herniorrhaphy scars. His entire body was soft and flabby with a mild fatty gynaecomastia. The skin had a velvety texture. Genu valgum was present and his first and second toes were wide-spaced bilaterally while his hands appeared normal. The phallus was small measuring 2 cm in length and the scrotum and inguinal canals were devoid of testes by palpation. A few short, straight, faintly pigmented hairs were present on the mons pubis. All parameters of an automated SMA-12 (Technicon Corporation, Terrytown, New York) serum chemical analyses were normal and a karyotype showed a 46 XY chromosomal constitution. A propranololglucagon stimulation test of growth hormone secretion using 20 mg\/M2 of propranolol and 1 mg of glucagon produced a normal increase in growth hormone to 17 ng\/ml","year":"1976","unstructured":"At age 28 his standing height, 138 cm (supine length 141 cm), was at the 50th centile for a 10-yearold; his head circumference, 53.5 cm, was at the 3rd centile for an adult. He had soft puffy cheeks, large normally formed ears, bilateral palpebral ptosis, depressed nasal bridge, and synophrys. The mean palpebral fissure length as measured from inner canthus to outer canthus was 2.65 cm according to the method of Smith (1976). The mean palpebral fissure length over the age of 5 years is 2.5 cm. Heart, chest, and abdominal examinations were normal with the exception of bilateral herniorrhaphy scars. His entire body was soft and flabby with a mild fatty gynaecomastia. The skin had a velvety texture. Genu valgum was present and his first and second toes were wide-spaced bilaterally while his hands appeared normal. The phallus was small measuring 2 cm in length and the scrotum and inguinal canals were devoid of testes by palpation. A few short, straight, faintly pigmented hairs were present on the mons pubis. All parameters of an automated SMA-12 (Technicon Corporation, Terrytown, New York) serum chemical analyses were normal and a karyotype showed a 46 XY chromosomal constitution. A propranololglucagon stimulation test of growth hormone secretion using 20 mg\/M2 of propranolol and 1 mg of glucagon produced a normal increase in growth hormone to 17 ng\/ml (Ruanqwit et al., 1972)."},{"key":"ref_10","article-title":"A random morning cortisol was 10, ug\/dl (normal 5 to 20, g\/dl). A morning cortisol of 2, ug\/dl followed an 11 p.m. oral dose of 2 mg of dexamethasone showing the expected suppression","year":"1976","unstructured":"A random morning cortisol was 10,ug\/dl (normal 5 to 20,g\/dl). A morning cortisol of 2,ug\/dl followed an 11 p.m. oral dose of 2 mg of dexamethasone showing the expected suppression (Cryer, 1976). A random serum testosterone was 48 ng\/dl (normal adult male: 300-1200 ng\/dl). Random morning and evening determinations of luteinising hormone were 7 and 6 mIU\/ml, respectively (normal less than 11 mIU\/ml). Random rnorning and evening follicle stimulating hormones (FSH) were 24 and 15 mIU\/ml (normal 4 to 25 mIU\/ml). A 3-hour constant infusion of luteinising hormone-releasing hormone (LH-RH) (Ayerst) by the method of Reiter et al. (1976) resulted in appropriate increases in LH and FSH but no corresponding rise in plasma testosterone, as shown in the Table.","journal-title":"Reiter et al; A random serum testosterone was 48 ng\/dl (normal adult male: 300-1200 ng\/dl). Random morning and evening determinations of luteinising hormone were 7 and 6 mIU\/ml, respectively (normal less than 11 mIU\/ml). Random rnorning and evening follicle stimulating hormones (FSH) were 24 and 15 mIU\/ml (normal 4 to 25 mIU\/ml). A 3-hour constant infusion of luteinising hormone-releasing hormone (LH-RH) (Ayerst) by the method of"},{"key":"ref_11","article-title":"X-ray studies show pronounced retardation of fusion of the epiphysial growth plates. Some fusion in the phalanges of the hand has occurred giving a bone age approximating 16 years. The hands appear otherwise normal. Pattern profile analysis (Poznanski","author":"of all bones of","year":"1972","unstructured":"X-ray studies show pronounced retardation of fusion of the epiphysial growth plates. Some fusion in the phalanges of the hand has occurred giving a bone age approximating 16 years. The hands appear otherwise normal. Pattern profile analysis (Poznanski et al., 1972) shows generalised shortening of all bones of the hands with predominant involvement of the phalanges.","journal-title":"et al; shows generalised shortening"},{"key":"ref_12","first-page":"125","article-title":"The Borjeson-ForssmanLehmann syndrome","volume":"9","author":"Baar, H.S.; Galindo, J.","year":"1965","unstructured":"Baar, H. S., and Galindo, J. (1965). The Borjeson-ForssmanLehmann syndrome. Journal of Mental Deficiency Research, 9, 125-130.","journal-title":"Journal of Mental Deficiency Research"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.0954-6820.1962.tb04162.x","article-title":"An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder","volume":"171","year":"1962","unstructured":"Borjeson, M., Forssman, H., and Lehmann, 0. (1962). An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Medica Scandinavica, 171, 13-21.","journal-title":"Acta Medica Scandinavica"},{"key":"ref_14","series-title":"Proceedings on the 2nd International Congress of Mental Retardation","first-page":"188","article-title":"Combination of idiocy, epilepsy, hypogonadism, dwarfism, hypometabolism and morphologic peculiarities inherited as an X-linked recessive syndrome","author":"Ed. Otto Stur. Karger, Basel.","year":"1963","unstructured":"Borjeson, M., Forssman, H., and Lehmann, 0. (1963). Combination of idiocy, epilepsy, hypogonadism, dwarfism, hypometabolism and morphologic peculiarities inherited as an X-linked recessive syndrome. In Proceedings on the 2nd International Congress of Mental Retardation, Vienna, 1961, Part 1, pp. 188-192. Ed. Otto Stur. Karger, Basel."},{"issue":"1","key":"ref_15","first-page":"317","article-title":"An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study","volume":"18","author":"Brun, A.; Borjeson, M.; Forssman, H.","year":"1974","unstructured":"Brun, A., Borjeson, M., and Forssman, H. (1974). An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study. Journal of Mental Deficiency Research, 18(1), 317-325.","journal-title":"Journal of Mental Deficiency Research"},{"key":"ref_16","first-page":"68","article-title":"Oxford The patient was ascertained in June 1976, during an aetiological assessment of sarcoma patients on a surgical service","author":"Cryer, P.E.","year":"1976","unstructured":"Cryer, P. E. (1976). Diagnostic Endocrinology, pp. 68-69. Oxford The patient was ascertained in June 1976, during an aetiological assessment of sarcoma patients on a surgical service.","journal-title":"Diagnostic Endocrinology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1148\/104.1.1","article-title":"Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations","volume":"104","author":"Poznanski, A.K.; Garn, S.M.; Nagy, J.M.; Gall, J.C.","year":"1972","unstructured":"Poznanski, A. K., Garn, S. M., Nagy, J. M., and Gall, J. C. (1972). Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology, 104, 1-13.","journal-title":"Radiology"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1210\/jcem-43-2-400","article-title":"The response of pituitary gonadotropes to constant infusion of luteinizing hormone-releasing hormone in normal prepubertal and pubertal children and in children with abnormalities of sexual development","volume":"43","author":"Reiter, E.Root; W., A.; Duckett, G.E.","year":"1976","unstructured":"Reiter, E. Root, A. W., and Duckett, G. E. (1976). The response of pituitary gonadotropes to constant infusion of luteinizing hormone-releasing hormone in normal prepubertal and pubertal children and in children with abnormalities of sexual development. Journal of Clinical Endocrinology and Metabolism, 43, 400-411.","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref_19","first-page":"350","article-title":"Propranolol enhancement of immunoreactive growth hormone response to glucagon in children","volume":"6","author":"Ruanqwit, U.; Cavallo, A.; Fisher, J.N.; Crigler, Jr, U.F.","year":"1972","unstructured":"Ruanqwit, U., Cavallo, A., Fisher, J. N., and Crigler, U. F., Jr. (1972). Propranolol enhancement of immunoreactive growth hormone response to glucagon in children. Pediatric Research, 6, 350.","journal-title":"Pediatric Research"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.1.63","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:32:12Z","timestamp":1759725132000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.1.63"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,2]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1978,2,1]]},"published-print":{"date-parts":[[1978,2]]}},"alternative-id":["10.1136\/jmg.15.1.63"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.1.63","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,2]]}}}