Hereditary Male Pseudohermaphroditism with Hypogonadism, Hypospadias, and Gynecomastia
Authors: P. Bowen, C. S. Lee, C. J. Migeon, Norman M Kaplan, Peggy J Whalley, V. A. Mckusick, E. C. Reinfenstein
Journal: Annals of Internal Medicine (1965)

Article1 February 1965Hereditary Male Pseudohermaphroditism with Hypogonadism, Hypospadias, and Gynecomastia(Reifenstein's Syndrome)PETER BOWEN, M.D., CATHERINE S. N. LEE, M.D., CLAUDE J. MIGEON, M.D., NORMAN M. KAPLAN, M.D., PEGGY J. WHALLEY, M.D., VICTOR A. MCKUSICK, M.D., F.A.C.P., EDWARD C. REIFENSTEIN JR., M.D., F.A.C.P.PETER BOWEN, M.D.Search for more papers by this author, CATHERINE S. N. LEE, M.D.Search for more papers by this author, CLAUDE J. MIGEON, M.D.Search for more papers by this author, NORMAN M. KAPLAN, M.D.Search for more papers by this author, PEGGY J. WHALLEY, M.D.Search for more papers by this author, VICTOR A. MCKUSICK, M.D., F.A.C.P.Search for more papers by this author, EDWARD C. REIFENSTEIN JR., M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-62-2-252 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe subject of this report is a syndrome of abnormal sexual development in the male that is simply inherited and consists of varying degrees of hypospadias associated with a characteristic type of hypogonadism. Two of the three families investigated were previously reported in brief by Reifenstein (1) and Young (2). The third family, living in Texas, has not been previously studied. Similar families have been described by Peters, Sieber, and Davis (3) and by Gilbert-Dreyfus, Sébaoun, and Belaisch (4). In the account that follows, complete details of the clinical characteristics, testicular histology, endocrine findings, and chromosome status of affected individuals...References1. 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Endocr. 22: 1201, 1962. Google Scholar30. MCKUSICK VA: Medical genetics 1962. J. Chronic Dis. 16: 457, 1963. CrossrefMedlineGoogle Scholar31. FERGUSON-SMITH M: Personal communication. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: PETER BOWEN, M.D.; CATHERINE S. N. LEE, M.D.; CLAUDE J. MIGEON, M.D.; NORMAN M. KAPLAN, M.D.; PEGGY J. WHALLEY, M.D.; VICTOR A. MCKUSICK, M.D., F.A.C.P.; EDWARD C. REIFENSTEINJR., M.D., F.A.C.P.Affiliations: Baltimore, Maryland; Dallas, Texas; and New Brunswick, New JerseyFrom the Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Md.; the Departments of Internal Medicine and Obstetrics-Gynecology, University of Texas, Southwestern Medical School, Dallas, Texas; and the Department of Clinical Research, The Squibb Institute for Medical Research, New Brunswick, N. J.This study was supported in part by grants GM-10189 and AM-00180 from the National Institutes of Health, Bethesda, Md.Requests for reprints should be addressed to Edward C. Reifenstein, Jr., M.D., The Squibb Institute for Medical Research, New Brunswick, N. J. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byIdentification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein FamilyGonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex developmentBilateral Laparoscopic Gonadectomy in a Patient With Complete Androgen Insensitivity Syndrome and Bilateral Sertoli-Leydig Cell Tumor: A Case Report and Brief Review of the LiteratureIncidental detection of Sertoli–Leydig cell tumor by FDG PET/CT imaging in a patient with androgen insensitivity syndromePET Imaging of Sertoli Cell Tumor in Androgen Insensitivity SyndromeREIFENSTEIN Edward ConradIntersexualityLate results of operative treatment of intersexuality in children with advanced hypospadias and simultaneous cryptorchidismLa sindrome di Reifenstein: Evoluzione, trattamento e decorso di un caso clinico particolare: Reifenstein's syndrome: Development, treatment and course of a special clinical caseIntersexualitätAndrogen resistance due to decreased amounts of androgen receptor: A reinvestigationIn memoriam. Dr. Peter Browen, 1932-1988Androgen Insensitivity Syndromes:Paradox of Phenotypic Feminization with Male Genotype and Normal Testicular Androgen SecretionIntersexualitätLarge Prostatic Utricles and Related Structures, Urogenital Sinus and Other Forms of Urethrovaginal ConfluenceDisorders of Sexual Differentiation (Intersexuality)The TestisIntracellular Hormone Receptor Defects and DiseaseThe androgen-response system in developmental health and diseaseEndocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs pheno-type can result from a mutation that alters the structure of the androgen receptorSexual Differentiation: Normal and AbnormalMale Fertility Disorders — History and Clinical ExaminationCultured human skin fibroblasts: a model for the study of androgen actionComments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiensThe Syndromes of Androgen ResistanceGenetic Disorders of Male Sexual DifferentiationSexual Ambiguity at BirthThe syndromes of primary hormone resistanceAndrogen Insensitivity as a Cause of Infertility in Otherwise Normal MenCompendiumReifenstein's Syndrome-a Target Cell FailureTestisManagement of neonates and children with male pseudohermaphroditismPartial Androgen InsensitivityCounting methods (EM algorithm) in human pedigree analysis: Linkage and segregation analysisMale pseudohermaphroditism: The complexities of male phenotypic developmentTesticular feminization syndrome current clinical considerationsMethadone-Associated GynecomastiaTHE AETIOLOGY AND MANAGEMENT OF INTERSEXUALITYLinkage investigation of a large family with Reifenstein's syndrome7 Gynaecomastia in male adolescentsPrimary and Secondary AmenorrhoeaFamilial Incomplete Male Pseudohermaphroditism, Type 2Reifenstein's syndrome: Investigation of linkage to X-chromosomal lociFamilial Incomplete Male Pseudohermaphroditism, Type 1Behavioral sexology: Ten cases of genetic male intersexuality with impaired prenatal and pubertal androgenizationDisorders of Sexual Differentiation (Intersexuality)TestisGenetic Disorders in Adolescents and Young AdultsThe child with ambiguous genitaliaRole of Androgens in Growth and Development of the Fetus, Child and Adolescent*Pseudovaginal perineoscrotal hypospadiasFamilial male hermaphroditism with ambiguous external genitaliaReifenstein’s Syndrome: Hereditary Familial Hypogonadism with Hypospadias and GynecomastiaMale Hermaphrodite with Hypospadias and GynecomastiaReferencesHypogonadism in Chromatin-Negative Phenotypic Male SubjectsFAMILIAL MALE PSEUDOHERMAPHRODITISMFamilial Syndrome of Primary Testicular Insufficiency with Normal Virilization, Blindness, Deafness and Metabolic AbnormalitiesA New probably X-Linked Inherited Syndrome: Congenital Muscular Torticollis, Multiple Keloids Cryptorchidism and Renal DysplasiaChromatin-negative hypogonadism in phenotypic menDisorders of Sexual DevelopmentThe General Appearance (Habitus)Catalytic Activity and Acidic Property of Solid Metal SulfatesDas sogenannte männliche Turner-SyndromSymposion IV Andrologie 1 February 1965Volume 62, Issue 2Page: 252-270KeywordsBloodChromosomesHistologyHypogonadismMedical geneticsRacial and ethnic issues ePublished: 1 December 2008 Issue Published: 1 February 1965 PDF downloadLoading ...