Abstract
Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Ayuso M. C., Ramos M. C., Bello M. C., Jimenez A., Sanchez Cascos A., Herrera J. L. Cytogenetic and clinical findings in ten 45,X/46,XY patients. Clin Genet. 1984 Apr;25(4):336–340. doi: 10.1111/j.1399-0004.1984.tb02000.x. [DOI] [PubMed] [Google Scholar]
- Hsu L. Y. Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update. Prenat Diagn. 1989 Jan;9(1):31–48. doi: 10.1002/pd.1970090106. [DOI] [PubMed] [Google Scholar]
- Manuel M., Katayama P. K., Jones H. W., Jr The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol. 1976 Feb 1;124(3):293–300. doi: 10.1016/0002-9378(76)90160-5. [DOI] [PubMed] [Google Scholar]
- Müller J. Abnormal infantile germ cells and development of carcinoma-in-situ in maldeveloped testes: a stereological and densitometric study. Int J Androl. 1987 Jun;10(3):543–567. doi: 10.1111/j.1365-2605.1987.tb00354.x. [DOI] [PubMed] [Google Scholar]
- Rosenfeld R. G., Hintz R. L., Johanson A. J., Sherman B., Brasel J. A., Burstein S., Chernausek S., Compton P., Frane J., Gotlin R. W. Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome. J Pediatr. 1988 Aug;113(2):393–400. doi: 10.1016/s0022-3476(88)80290-7. [DOI] [PubMed] [Google Scholar]
- Simpson J. L. Abnormal sexual differentiation in humans. Annu Rev Genet. 1982;16:193–224. doi: 10.1146/annurev.ge.16.120182.001205. [DOI] [PubMed] [Google Scholar]