{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:01Z","timestamp":1760762401177,"version":"build-2065373602"},"reference-count":15,"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 pair of monozygotic, adolescent twins is discordant for sex. The phenotypic female twin has chromosome constitution of 46, XY\/45, X. She displays many signs of Turner's syndrome, including typical facies, webbed neck, malformed left kidney, high plasma gonadotropins, and streak ovaries. However, her height is 154 cm which exceeds the height usually reported in Turner's syndrome. The male twin has a karyotype of 46, XY and normal sexual development. Only two other reports of pairs of monozygotic twins of opposite sex have been published.<\/jats:p>","DOI":"10.1136\/jmg.13.1.64","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"64-68","source":"Crossref","is-referenced-by-count":25,"title":["Monozygotic twins discordant for sex."],"prefix":"10.1136","volume":"13","author":[{"given":"R","family":"Schmidt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E H","family":"Sobel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H M","family":"Nitowsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Dar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"F H","family":"Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/j.1601-5223.1971.tb02363.x","article-title":"The 24 fluorescence pattems of the human metaphase chromosomesdistinguishing characters and variability","volume":"67","author":"Caspersson, T.; Lomakka, G.; Zech, L.","year":"1971","unstructured":"Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence pattems of the human metaphase chromosomesdistinguishing characters and variability. Hereditas, 67, 89-123.","journal-title":"Hereditas"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1542\/peds.52.5.725","article-title":"Mixed gonadal dysgenesis","volume":"52","author":"Davidoff, F.; Federman, D.D.","year":"1973","unstructured":"Davidoff, F. and Federman, D. D. (1973). Mixed gonadal dysgenesis. Pediatrics, 52, 725-742.","journal-title":"Pediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1136\/jmg.3.2.117","article-title":"Monozygotic twins of different sex","volume":"3","author":"Edwards, J.H.; Dent, T.; Kahn, J.","year":"1966","unstructured":"Edwards, J. H., Dent, T., and Kahn, J. (1966). Monozygotic twins of different sex. Journal of Medical Genetics, 3, 117-123.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1097\/00005792-196503000-00002","article-title":"Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries","volume":"44","author":"Engel, E.; Forbes, A.P.","year":"1965","unstructured":"Engel, E. and Forbes, A. P. (1965). Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine, 44, 135-162.","journal-title":"Medicine"},{"key":"ref_5","article-title":"The Genetics of Dermal Ridges. Charles C","author":"Holt, S.B.","year":"1968","unstructured":"Holt, S. B. (1968). The Genetics of Dermal Ridges. Charles C. Thomas, Springfield, Illinois."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1136\/jmg.10.3.201","article-title":"The development of the epidermal ridges","volume":"10","author":"Penrose, L.S.; Ohara, P.T.","year":"1973","unstructured":"Penrose, L. S. and Ohara, P. T. (1973). The development of the epidermal ridges. Journal of Medical Genetics, 10, 201-209.","journal-title":"Journal of Medical Genetics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1111\/j.1651-2227.1972.tb15867.x","article-title":"Turner's syndrome in one of monozygotic twins with mosaicism","volume":"61","author":"Potter, A.M.; Taitz, L.S.","year":"1972","unstructured":"Potter, A. M. and Taitz, L. S. (1972). Turner's syndrome in one of monozygotic twins with mosaicism. Acta Paediatrica Scandinavica, 61, 473-476.","journal-title":"Acta Paediatrica Scandinavica"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/0002-9378(72)90530-3","article-title":"Monozygotic twins with the Turner syndrome","volume":"112","author":"Riekhof, P.L.; Horton, W.A.; Harris, D.J.; Schimke, R.N.","year":"1972","unstructured":"Riekhof, P. L., Horton, W. A., Harris, D. J., and Schimke, R. N. 1972). Monozygotic twins with the Turner syndrome. American Journal of Obstetrics and Gynecology, 112, 59-61.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1210\/jcem-26-12-1282","article-title":"Gonadal dysgenesis and its unilateral variant with testis in monozygous twins: related to discordance in sex chromosomal status","volume":"26","author":"Russell, A.; Moschos, A.; Butler, L.J.; Abraham, J.M.","year":"1966","unstructured":"Russell, A., Moschos, A., Butler, L. J., and Abraham, J. M. (1966). Gonadal dysgenesis and its unilateral variant with testis in monozygous twins: related to discordance in sex chromosomal status. journal of Clinical Endocrinology and Metabolism, 26, 1282-1291.","journal-title":"journal of Clinical Endocrinology and Metabolism"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1136\/jmg.3.2.124","article-title":"Turner's syndrome in monozygotic twins","volume":"3","author":"Shine, I.B.; Corney, G.","year":"1966","unstructured":"Shine, I. B. and Corney, G. (1966). Turner's syndrome in monozygotic twins. Journal of Medical Genetics, 3, 124-128.","journal-title":"Journal of Medical Genetics"},{"key":"ref_11","first-page":"29452946","article-title":"Presomption de monozygotisme en depit d'un dimorphisme sexuel: sujet neutre haplo X","volume":"252","author":"Turpin, R.; Lejeune, J.; Lafourcade, J.; Chigot, P.L.; Salmon, Ch","year":"1961","unstructured":"Turpin, R., Lejeune, J., Lafourcade, J., Chigot, P. L., and Salmon, Ch. (1961). Presomption de monozygotisme en depit d'un dimorphisme sexuel: sujet neutre haplo X. Comptes Rendus Hebdomadaires des Sdances de l'Acadimie des Sciences, 252, 29452946.","journal-title":"Comptes Rendus Hebdomadaires des Sdances de l'Acadimie des Sciences"},{"key":"ref_12","article-title":"Since this paper was submitted for publication, another pair of monozygotic twins, discordant for phenotypic sex, was described (Karp et al","volume-title":"As in our case, the normal male had a karyotype of 46, XY, while the female's chromosome constitution was 46XY\/45X, similar to our case. However, the phenotypic female twin had an enlarged clitoris and histology of one gonad showed some testicular structures. This girl also had fewer clinical signs of Turner's syndrome than our patient. Thus the case of Karp et al could have been assigned to the syndrome of mixed gonadal dysgenesis (Davidoff and Federman","year":"1975","unstructured":"Since this paper was submitted for publication, another pair of monozygotic twins, discordant for phenotypic sex, was described (Karp et al, 1975). As in our case, the normal male had a karyotype of 46,XY, while the female's chromosome constitution was 46XY\/45X, similar to our case. However, the phenotypic female twin had an enlarged clitoris and histology of one gonad showed some testicular structures. This girl also had fewer clinical signs of Turner's syndrome than our patient. Thus the case of Karp et al could have been assigned to the syndrome of mixed gonadal dysgenesis (Davidoff and Federman, 1973)."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1136\/jmg.12.1.70","article-title":"The occurrence of gonadal dysgenesis in association with monozygotic twinning","volume":"12","author":"Karp, L.; Bryant, J.I.; Tagatz, G.; Giblett, F.; Fialkow, P.J.","year":"1975","unstructured":"Karp, L., Bryant, J. I., Tagatz, G., Giblett, F., and Fialkow, P. J. (1975). The occurrence of gonadal dysgenesis in association with monozygotic twinning. Journal of Medical Genetics, 12, 70-78.","journal-title":"Journal of Medical Genetics"},{"key":"ref_14","article-title":"Reports of agonadism are scarce (Overzier and Linden, 1956; Philipp, 1956; Chaptal et al","volume-title":"Levinson et al, 1975) and its aetiology remains ill understood at this time. Hitherto, all patients with gonadal agenesis syndrome have been found to possess an XY karyotype so that it has been suggested that the fetal testis was functional for a sufficient time to induce the Miulerian duct inhibition, but not long enough to maintain Wolffian duct development. A short activity of the fetal testis would also account for the partially virilized external genitalia which is a common finding in these patients. The syndrome has been discussed under various names as 'true agonadism', 'vanishing testicles', 'XY female with absent gonads', and 'the XY gonadal agenesis syndrome'. The purpose of the present communication is to report what is, to our knowledge, the first case of gonadal agenesis associated with a 46, XX sex chromosome constitution","author":"Dewhurst","year":"1958","unstructured":"Reports of agonadism are scarce (Overzier and Linden, 1956; Philipp, 1956; Chaptal et al, 1958; Dewhurst et al, 1963; Emson and Buckwold, 1965; Sarto and Opitz, 1973; Levinson et al, 1975) and its aetiology remains ill understood at this time. Hitherto, all patients with gonadal agenesis syndrome have been found to possess an XY karyotype so that it has been suggested that the fetal testis was functional for a sufficient time to induce the Miulerian duct inhibition, but not long enough to maintain Wolffian duct development. A short activity of the fetal testis would also account for the partially virilized external genitalia which is a common finding in these patients. The syndrome has been discussed under various names as 'true agonadism', 'vanishing testicles', 'XY female with absent gonads', and 'the XY gonadal agenesis syndrome'. The purpose of the present communication is to report what is, to our knowledge, the first case of gonadal agenesis associated with a 46,XX sex chromosome constitution."},{"key":"ref_15","article-title":"The proband, aged 17, was","volume-title":"because of primary amenorrhoea and retardation of sexual development. The patient had been brought up as a woman since she had a feminine phenotype (Fig. 1). Height was 145 cm, lower segment 75 cm, span 147 cm; weight was 45 kg. Breasts were prepubertal and axillary hair was absent","year":"1974","unstructured":"The proband, aged 17, was admitted to hospital on 9 August 1974, because of primary amenorrhoea and retardation of sexual development. The patient had been brought up as a woman since she had a feminine phenotype (Fig. 1). Height was 145 cm, lower segment 75 cm, span 147 cm; weight was 45 kg. Breasts were prepubertal and axillary hair was absent. External genitalia (Fig. 2) showed immature labia majora and An XX female with sexual infantilism, absent gonads, and lack of Mullerian ducts*"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.1.64","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:13:21Z","timestamp":1760760801000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.1.64"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,2]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1976,2,1]]},"published-print":{"date-parts":[[1976,2]]}},"alternative-id":["10.1136\/jmg.13.1.64"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.1.64","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,2]]}}}