The Syndrome of Testicular Feminization
Authors: A. LOUIS SOUTHREN
Journal: Annals of Internal Medicine (1961)

Article1 December 1961The Syndrome of Testicular FeminizationA Report of Three Cases with Chromatographic Analysis of the Urinary Neutral 17-KetosteroidsA. LOUIS SOUTHREN, M.D., AKIRA SAITO, PH.D.A. LOUIS SOUTHREN, M.D.Search for more papers by this author, AKIRA SAITO, PH.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-55-6-925 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTesticular feminization is a form of male pseudohermaphroditism (1, 2). It includes "females" who appear to be normal, with definite signs of spontaneous gonadal hormone activity at puberty but with male sex chromatin pattern and male gonads. Recently, Jacobs, Baikie, Court-Brown, Forrest, Roy, Stewart, and Lennox (3) described chromosome analysis of bone marrow cells from four such patients, all of whom had a 46/xy chromosomal constitution. The condition is familial and is transmitted exclusively through the maternal line (4). A recent analysis of 16 affected pedigrees supports the contention that this disorder is transmitted by either a sex-linked recessive or...References1. PETERSONBONNIER GG: Inherited sex-mosaic in man. Hereditas 23: 49, 1937. CrossrefGoogle Scholar2. MORRIS JM: The syndrome of testicular feminization in male pseudohermaphrodites. Amer. J. Obstet. Gynec. 65: 1192, 1953. CrossrefMedlineGoogle Scholar3. JACOBSBAIKIECOURT-BROWNFORRESTROYSTEWARTLENNOX PAAGWMHJRJSB: Chromosomal sex in the syndrome of testicular feminization. Lancet 2: 591, 1959. CrossrefMedlineGoogle Scholar4. GRUMBACHBARR MMML: Cytologic tests of chromosomal sex in relation to sexual anomalies in man, in Recent Progress in Hormone Research, ed. by Pincus, G., Academic Press, Inc., New York, 1958, Vol. 14, p. 225. Google Scholar5. NILSSONBERGMANRETALUWALDENSTROM IMSJJ: Haemophilia A in a "girl" with male sex-chromatin pattern. Lancet 2: 264, 1959. CrossrefMedlineGoogle Scholar6. STEWART JS: Testicular feminization and colour-blindness. Lancet 2: 592, 1956. Google Scholar7. HOLTORFFKOCH AFFC: The colorimetric estimation of 17-ketosteroids and their application to urine extracts. J. Biol. Chem. 135: 377, 1940. CrossrefGoogle Scholar8. FROME EG: A micro method for the separation of 17-ketosteroids in alpha and beta fractions. Endocrinology 34: 175, 1944. CrossrefGoogle Scholar9. RUBINDORFMANPINCUS BLRIG: Quantitative determination of seven urinary 17-ketosteroids. Recent Progr. Hormone Res. 9: 213, 1954. Google Scholar10. PINCUS G: The analysis of human urine for steroid substances. J. Clin. Endocr. 5: 291, 1945. CrossrefGoogle Scholar11. EBERLEINBONGIOVANNI WRAM: A paper chromatographic method for the measurement of pregnanediol in urine. J. Clin. Endocr. 18: 300, 1958. CrossrefGoogle Scholar12. BONGIOVANNIEBERLEIN AMWR: Critical analysis of methods for measurement of pregnane-3-alpha, 17-alpha, 20-alpha-triol in human urine. Analyt. Chem. 30: 388, 1958. CrossrefGoogle Scholar13. PETERSONWYNGAARDENGUERRABRODIEBUNIM REJBSLBBJJ: The physiological disposition and metabolic fate of hydrocortisone in man. J. Clin. Invest. 34: 1779, 1955. CrossrefMedlineGoogle Scholar14. IKKOSTILLINGERWESTMAN DKA: Testicular feminization. Acta Endocrinol. 32: 222, 1959. CrossrefMedlineGoogle Scholar15. SALASSAPARISMATTOXMASONALBERT RMJRHLA: Endocrine studies in a case of male pseudohermaphroditism: testicular feminization. J. Clin. Endocr. 21: 506, 1961. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: New York, New YorkFrom the Endocrine Research Laboratories of the Departments of Medicine and Chemistry, The Mount Sinai Hospital, New York, New York, and the Endocrine Research Laboratory of the Department of Medicine of The Jewish Hospital, Brooklyn, New York.Requests for reprints should be addressed to A. Louis Southren, M.D., The New York Medical College, 1249 Fifth Avenue, New York, New York. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByAndrogen ResistanceAndrogen ResistanceAndrogen insensitivity syndromesMetabolic DisordersEndokrinologie in der KinderheilkundeTesticular feminization syndromeRepresentative Causes of Ambiguous GenitaliaTesticuläre FeminisierungSymposion IV AndrologieThe Syndrome of Testicular FeminizationHypoglycemia Associated with Carcinoma of the Cecum and Syndrome of Testicular FeminizationMedical genetics 1961 1 December 1961Volume 55, Issue 6Page: 925-931KeywordsChromosomesEstrogensExcretionGonadsHormonesHospital medicinePhotographyPubertyResearch laboratoriesTestes Issue Published: 1 December 1961 PDF DownloadLoading ...