Genetic Disorders of Male Sexual Differentiation

Textbook of Endocrinology

1952 • 1,475 citations

Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

1974 • 1,241 citations

The Conversion of Testosterone to 5α-Androstan-17β-ol-3-one by Rat Prostate in Vivo and in Vitro

1968 • 1,023 citations

Textbook of Endocrinology.

1975 • 643 citations

Familial Incomplete Male Pseudohermaphroditism, Type 2

1974 • 617 citations

Testosterone Formation and Metabolism During Male Sexual Differentiation in the Human Embryo

1974 • 592 citations

17-hydroxylation deficiency in man.

1966 • 562 citations

X-linked Gene for Testicular Feminization in the Mouse

1970 • 551 citations

Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of Malformations

1965 • 516 citations

Receptor Proteins for Androgens

1969 • 452 citations

The anatomy and histology of XO human embryos and fetuses

1966 • 446 citations

The age of occurrence of gonadal tumors in intersex patients with a Y chromosome

1976 • 445 citations

KINETICS OF THE GERMINAL EPITHELIUM IN MAN.

1964 • 438 citations

Mendelian Inheritance in Man.

1979 • 431 citations

A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

1970 • 399 citations

Male pseudohermaphroditism due to steroid 5α-reductase deficiency

1977 • 390 citations

X-Y CHROMOSOMAL INTERCHANGE IN THE ÆTIOLOGY OF TRUE HERMAPHRODITISM AND OF XX KLINEFELTER'S SYNDROME

1966 • 369 citations

Steroid Hormone Receptors

1976 • 345 citations

THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE*

1962 • 300 citations

Mechanisms of Action of Steroid Hormones

1971 • 293 citations

The conversion of testosterone to 5α-Androstan-17β-ol-3-one (dihydrotestosterone) by Skin Slices Of man

1969 • 276 citations

Characterization of a blood group I-active ganglioside. Structural requirements for I and i specificities.

1979 • 276 citations

Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins

1964 • 265 citations

Major Sex-Determining Genes

1979 • 265 citations

Analytic review: nature and origin of males with XX sex chromosomes.

1972 • 254 citations

SYNDROME OF ANDROGEN INSENSITIVITY IN MAN: ABSENCE OF 5 α - DIHYDROTESTOSTERONE BINDING PROTEIN IN SKIN FIBROBLASTS.¹

1974 • 253 citations

Dihydrotestosterone binding by cultured human fibroblasts. Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance.

1976 • 231 citations

Non-inactivation of an X-Chromosome Locus in Man

1979 • 216 citations

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

1970 • 210 citations

A new look at the mechanisms controlling sex differentiation in mammals.

1972 • 210 citations

Genetic Mapping of the 21-Hydroxylase-Deficiency Gene within the HLA Linkage Group

1978 • 203 citations

Three types of blood group I specificity among monoclonal anti-I autoantibodies revealed by analogues of a branched erythrocyte glycolipid.

1979 • 183 citations

Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.

1975 • 182 citations

Familial Male Pseudohermaphroditism with Gynecomastia Due to a Testicular 17-Ketosteroid Reductase Defect. I. Studiesin Vivo

1971 • 172 citations

Source of the Anti-müllerian Hormone Synthesized by the Fetal Testis: Müllerian-inhibiting Activity of Fetal Bovine Sertoli Cells in Tissue Culture

1974 • 170 citations

A reconstituted cell-free system for the specific transfer of steroid–receptor complexes into nuclear chromatin isolated from rat ventral prostate gland

1971 • 170 citations

Recent Studies on the Mechanism of Action of Testosterone

1972 • 168 citations

STEROID 17, 20‐DESMOLASE DEFICIENCY: A NEW CAUSE OF MALE PSEUDOHERMAPHRODITISM

1972 • 161 citations

Male pseudohermaphroditism: The complexities of male phenotypic development

1976 • 156 citations

Sexual Differentiation

1978 • 156 citations

The Receptors of Steroid Hormones

1976 • 155 citations

Hypogonadism and Mineralocorticoid Excess

1967 • 152 citations

Androgen insensitivity in man: evidence for genetic heterogeneity.

1976 • 152 citations

Male Pseudohermaphroditism Due to Testicular 17β-Hydroxysteroid Dehydrogenase Deficiency1

1973 • 147 citations

Blood and Tissue Antigens

1970 • 146 citations

Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: four cases secondary to hypothalamic hormone deficiencies

1975 • 138 citations

Triploidy in man

1974 • 137 citations

A New Form of Congenital Adrenal Hyperplasia¹

1967 • 135 citations

Leydig-Cell Agenesis

1976 • 134 citations

Genetic mechanisms of sexual development

1980 • 134 citations

Release of oligosaccharides from various glycosphingolipids by endo-beta-galactosidase.

1978 • 132 citations

A STUDY OF THE ANDROGEN RECEPTORS IN A VARIETY OF ANDROGEN-SENSITIVE TISSUES

1973 • 132 citations

Familial Persistent Müllerian Duct Syndrome

1976 • 124 citations

Maternal Progestins as a Possible Cause of Hypospadias

1979 • 121 citations

THE ONTOGENESIS OF HUMAN FOETAL HORMONES. II. LUTEINIZING HORMONE (LH) AND FOLLICLE STIMULATING HORMONE (FSH)

1976 • 119 citations

THE VANISHING TESTIS

1969 • 115 citations

The anti-Müllerian hormone.

1977 • 114 citations

Mapping the Locus of the H-Y Gene on the Human Y Chromosome

1977 • 114 citations

Familial Occurrence of Persistent Mullerian Structures in Otherwise Normal Males

1973 • 112 citations

Studies on testosterone metabolism in subjects with testicular feminization syndrome

1970 • 111 citations

Diminished 5alpha-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2.

1975 • 111 citations

FAMILIAL MALE PSEUDOHERMAPHRODISM WITH LABIAL TESTES AND PARTIAL FEMINIZATION: ENDOCRINE STUDIES AND GENETIC ASPECTS

1959 • 110 citations

Androgen receptor in human skin fibroblasts characterization of a specific 17β-hydroxy-5α-androstan-3-one-protein complex in cell sonicates and nuclei

1975 • 108 citations

Estradiol-17β: a metabolite of testosterone recovered in cell nuclei from limbic areas of adult male rat brains

1975 • 106 citations

Partial Androgen Insensitivity

1977 • 104 citations

Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens. Deficient 5alpha-dihydrotestosterone binding in cultured skin fibroblasts.

1976 • 103 citations

Structural characterization of lactotetraosylceramide, a novel glycosphingolipid isolated from human meconium.

1979 • 103 citations

Genetically Determined Sex-Reversal in 46,XY Humans

1978 • 103 citations

Origin and Development of the Germinative Epithelium and Sertoli Cells in the Human Testis: Cytological, Cytochemical, and Quantitative Study

1960 • 103 citations

Heteromorphic X chromosomes in 46,XX males: Evidence for the involvement of X-Y interchange

1979 • 102 citations

Immunochemistry of Ii-Active Glycosphingolipids of Erythrocytes

1979 • 102 citations

Congenital Adrenal Hyperplasia Secondary to 17-Hydroxylase Deficiency

1969 • 102 citations

Human Testicular Development and the Role of the Mesonephros in the Origin of a Dual Sertoli Cell System*

2009 • 100 citations

Steroid 5alpha-reductase in cultured human fibroblasts. Biochemical and genetic evidence for two distinct enzyme activities.

1976 • 99 citations

Germ Cells in the Ovaries of Xo Female Infants

1968 • 98 citations

Prepubertal Diagnosis of Steroid 5α-Reductase Deficiency*

1978 • 98 citations

Familial Xy Gonadal Dysgenesis

1968 • 97 citations

CHARACTERIZATION OF THE SPECIFIC ANDROGEN RECEPTORS IN THE HUMAN PROSTATE GLAND

1973 • 94 citations

Hereditary Male Pseudohermaphroditism Associated with an Unstable Form of 5α-Reductase

1978 • 94 citations

EVIDENCE FOR DEFICIENT 20α-CHOLESTEROL-HYDROXYLASE ACTIVITY IN ADRENAL TISSUE OF A PATIENT WITH LIPOID ADRENAL HYPERPLASIA

1972 • 91 citations

Virilization of the Wolffian Duct in the Rat Fetus by Various Androgens

1974 • 89 citations

Congenital Adrenal Hyperplasia Due to a Deficiency of One of the Enzymes Involved in the Biosynthesis of Pregnenolone

1968 • 89 citations

Paternal Transmission of Maleness in XX Human Beings

1973 • 86 citations

Recessive sex-determining genes in human XX male syndrome

1978 • 85 citations

Expression of H-Y Antigen in Human Males with Two Y Chromosomes

1975 • 84 citations

Hereditary Male Pseudohermaphroditism with Hypogonadism, Hypospadias, and Gynecomastia

1965 • 83 citations

Testicular Feminization: Clinical, Morphological and Biochemical Studies

1965 • 82 citations

Congenital Lipoid Adrenal Hyperplasia in an Eight-Year-Old Phenotypic Female

1973 • 82 citations

Furtherin VivoStudies in Male Pseudohermaphroditism with Gynecomastia Due to a Testicular 17-Ketosteroid Reductase Defect (Compared to a Case of Testicular Feminization)

1972 • 82 citations

Estradiol-17β: a metabolite of testosterone recovered in cell nuclei from limbic areas of neonatal rat brains

1975 • 81 citations

Development of the Genital System and Male Pseudohermaphroditism.

1971 • 79 citations

Further Evidence of a Target Organ Defect in the Syndrome of Testicular Feminization1

1966 • 78 citations

Familial Male Pseudohermaphroditism without Gynecomastia Due to Deficient Testicular 17-Ketosteroid Reductase Activity

1974 • 75 citations

Pseudovaginal perineoscrotal hypospadias

1972 • 72 citations

P blood group regulation of glycosphingolipid levels in human erythrocytes.

1979 • 71 citations

Two XY Siblings with Gonadal Dysgenesis and a Female Phenotype

1965 • 71 citations

Pubertal Boy with the 3β-Hydroxy steroid Dehydrogenase Defect

1971 • 70 citations

Isolation and characterization of a novel fucoganglioside of human erythrocyte membranes.

1978 • 69 citations

Male pseudohermaphroditism and pure gonadal dysgenesis in sisters

1967 • 67 citations

Leydig Cell Hypoplasia: A Cause of Male Pseudohermaphroditism.

1978 • 67 citations

Familial True Hermaphrodism

1963 • 67 citations

PLASMA CONCENTRATION OF TESTOSTERONE, DIHYDROTESTOSTERONE, TESTOSTERONE-OESTRADIOL BINDING GLOBULIN, AND PITUITARY GONADOTROPHINS IN THE SYNDROME OF MALE PSEUDO-HERMAPHRODITISM WITH TESTICULAR FEMINIZATION

1972 • 65 citations

Unusual Type of Congenital Adrenal Hyperplasia Probably Due to Deficiency of 3β-Hydroxysteroid Dehydrogenase. Case Report of a Surviving Girl and Steroid Studies¹

1970 • 64 citations

Hypogonadism in a Male with Immunologically Active, Biologically Inactive Luteinizing Hormone: An Exception to a Venerable Rule*

1979 • 64 citations

Fluorescent evidence for spermatocytes with two Y chromosomes in an XYY male

1971 • 64 citations

The development of the sex cords in the gonads of man and mammals

1942 • 63 citations

Clinical and Endocrinologic Characterization of a Patient with the Syndrome of Incomplete Testicular Feminization

1975 • 62 citations

Familial XY gonadal dysgenesis.

1970 • 61 citations

A New Male Pseudohermaphroditism Associated with Hypertension due to a Block of 17α-Hydroxylation

1972 • 60 citations

Familial Gynecomastia

1965 • 59 citations

Sex steroid production by the human fetus: its role in morphogenesis and control by gonadotropins.

1977 • 58 citations

REPRODUCTION AND MEIOSIS IN XYY

1967 • 56 citations

MALE PSEUDOHERMAPHRODITISM WITH GYNAECOMASTIA DUE TO TESTICULAR 17‐KETOSTEROID REDUCTASE DEFICIENCY

1977 • 55 citations

Male Pseudohermaphroditism Due to 17a -Hydroxylase Deficiency

1970 • 54 citations

Immunologic homology of human blood group glycosyltransferases and genetic background of blood group (ABO) determination

1979 • 53 citations

Studies of Androgens in the Syndrome of Male Pseudohermaphroditism with Testicular Feminization

1967 • 50 citations

ANDROGEN RECEPTORS AND METABOLISM IN CULTURED HUMAN FETAL FIBROBLASTS

1980 • 48 citations

Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor: A Unifying Concept

1974 • 48 citations

Role of testosterone binding to the androgen receptor in male sexual differentiation of patients with 5α-reductase deficiency

1979 • 47 citations

Dysgenetic Male Pseudohermaphroditism

1978 • 46 citations

Bilateral Anorchia with Persistent Testosterone Production

1970 • 45 citations

Immunologic homology of human blood group glycosyltransferases and genetic background of blood group (ABO) determination

1979 • 44 citations

Blood Production Rate of Dihydrotestosterone in the Syndrome of Male Pseudohermaphroditism with Testicular Feminization

1972 • 43 citations

Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor: A Unifying Concept

1974 • 42 citations

Molecular characterization of cell‐surface antigens of human fetal tissue Meconium, a rich source of epithelial blood‐group glycolipids

1978 • 41 citations

Plasma and Urinary Steroids in an Eight-Year-Old Boy with 3β-Hydroxysteroid Dehydrogenase Deficiency

1970 • 39 citations

A CASE OF MALE PSEUDOHERMAPHRODITISM ASSOCIATED WITH ELEVATED LH, NORMAL FSH AND LOW TESTOSTERONE POSSIBLY DUE TO THE SECRETION OF AN ABNORMAL LH MOLECULE

1976 • 38 citations

Immunological Identification of Blood Group P^k Antigen on Normal Human Erythrocytes and Isolation of Anti‐P^k with Different Affinity

1979 • 37 citations

True Hermaphrodite Siblings

1958 • 36 citations

Male Pseudohermaphrodism with XYY Sex Chromosomes

1967 • 34 citations

Familial chromosomal mosaicism, genetic aspects

1970 • 34 citations

Gonadoblastoma Occurring in a Patient with Familial Gonadal Dysgenesis

1962 • 34 citations

“True agonadism”: A misnomer?

1974 • 33 citations

Female phenotype in a male child due to 17-alpha-hydroxylase deficiency.

1976 • 33 citations

5α‐Reductase activity of genital and nongenital skin fibroblasts from patients with 5α‐reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism

1978 • 33 citations

Bilateral Wilms’s Tumor in a Male Pseudohermaphrodite

1954 • 30 citations

Metabolism of testosterone-14C by cultured human cells

1972 • 30 citations

New Finds at the Swartkrans Australopithecine Site (contd): Two New Early Hominid Vertebrae from Swartkrans

1970 • 29 citations

The fine structure of the gonads in the complete form of testicular feminization syndrome

1972 • 29 citations

TRANSMISSION OF 47,XYY KARYOTYPE?

1969 • 29 citations

Human placental 3beta-hydroxysteroid dehydrogenase: delta5-isomerase. Demonstration of an intermediate in the conversion of 3beta-hydroxypregn-5-en-20-one to pregn-4-ene-3,20-dione.

1976 • 29 citations

Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder

1973 • 29 citations

Persistent Müllerian Duct Syndrome in Male Identical Twins

1978 • 28 citations

Studies in a phenotypic female with 17-α-hydroxylase deficiency

1976 • 26 citations

[Case of familial androgynism with severe hypospadias, gynecomastia and excessive estrogen production].

1957 • 26 citations

Genetic Forms of Hypogonadism

1976 • 25 citations

Male Pseudohermaphroditism With Partial Androgen Insensitivity

1977 • 25 citations

A CHEMICAL STUDY OF THE BLOOD GROUP-SPECIFIC SUBSTANCES FOUND IN MECONIUM

1951 • 25 citations

Studies of Androgen Production and Binding in 13 Male Pseudohermaphrodites and 13 Males with Micropenis

1977 • 24 citations

Testicular function in XYY men.

1975 • 23 citations

M??llerian-inhibiting Activity of Human Fetal Testicular Tissue Deprived of Germ Cells by in Vitro Irradiation

1974 • 23 citations

Immunogenetic aspects of abnormal sexual differentiation

1979 • 23 citations

Isolation, composition and reactivity of the neutral glycoproteins from human meconiums with specificities of the ABO and Lewis systems

1976 • 23 citations

[61] endo-β-Galactosidase and endo-α-N-acetylgalactosaminidase from Diplococcus pneumoniae

1978 • 22 citations

Radiologic Detection of Breast Cancer

1976 • 21 citations

Familial Male Pseudohermaphroditism with Normal Leydig Cell Function at Puberty*

1978 • 21 citations

Composition of Meconium. Serological Study of Blood-Group-Specific Substances Found in Individual Meconiums.

1951 • 21 citations

Endocrine and Metabolic Studies in an XY Patient with Gonadal Agenesis¹

1974 • 21 citations

Studies on Spermatogenesis, Meiotic Chromosomes, and Sperm Morphology in two Males with a 47,XYY Chromosome Complement

1970 • 19 citations

Detection of the heterozygous state in siblings of patientswith congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1979 • 18 citations

Familial Incomplete Virilization Due to Partial End Organ Insensitivity to Androgens

1975 • 17 citations

Solubilization and separation of Δ5,3β-hydroxysteroid dehydrogenase and 3-oxosteroid-Δ4–Δ5-isomerase from bovine adrenal cortex microsomes

1978 • 16 citations

Nephroblastoma in a case of agonadism

1965 • 14 citations

Testicular feminization syndrome. Chromosomal, histologic, and genetic studies in a large kindred.

1969 • 13 citations

HUMAN SOURCES OF BLOOD GROUP SUBSTANCES

1970 • 9 citations

An Adult Phenotypic Male with a 46, XX Chromosome Complement

1970 • 9 citations

True hermaphroditism with 46,XX-46,XY chromosome complement. Report of a case.

1970 • 8 citations

STUDIES IN A PHENOTYPIC FEMALE WITH 17α-HYDROXYLASE DEFICIENCY

1977 • 3 citations

TESTICULAR FEMINIZING SYNDROME IN MALE PSEUDOHER-MAPHRODITE. REPORT OF TWO CASES IN IDENTICAL TWINS

1959 • 2 citations