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THE ADRENOGENITAL SYNDROME WITH DEFICIENCY OF 3β-HYDROXYSTEROID DEHYDROGENASE

Alfred M. Bongiovanni

Alfred M. Bongiovanni

Published November 1, 1962
Citation Information: J Clin Invest. 1962;41(11):2086-2092. https://doi.org/10.1172/JCI104666.

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Citations to this article (215)

Title and authors	Publication	Year
History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology. Miller WL, White PC	Endocrine reviews	2023
Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study. Polat S, Karaburgu S, Unluhizarci K, Dundar M, Ozkul Y, Arslan YK, Karaca Z, Kelestimur F	Journal of Endocrinological Investigation	2023
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features Baronio, Ortolano, Menabò, Cassio, Baldazzi, D Natale, Tonti, Vestrucci, Balsamo	International journal of molecular sciences	2019
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency AM Alawi, A Nordenström, H Falhammar	Endocrine	2019
The molecular basis and genotype–phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population A Dundar, R Bayramov, MG Onal, M Akkus, ME Dogan, S Kenanoglu, MC Gunes, U Kazimli, MN Ozbek, O Ercan, R Yildirim, G Celmeli, M Parlak, I Dundar, N Hatipoglu, K Unluhizarci, H Akalin, Y Ozkul, C Saatci, M Dundar	Molecular Biology Reports	2019
Monogenic Disorders of Adrenal Steroidogenesis ES Baranowski, W Arlt, J Idkowiak	Hormone Research in Pædiatrics	2018
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population MM Alswailem, OS Alzahrani, DS Alhomaidah, R Alasmari, E Qasem, AK Murugan, A Alsagheir, I Brema, BB Abbas, M Almehthel, A Almeqbali, AS Alzahrani	Molecular and Cellular Endocrinology	2017
Endocrinology: Adult and Pediatric M Gurnell, TJ Visser, P Beck-Peccoz, VK Chatterjee	Endocrinology: Adult and Pediatric	2016
Endocrinology C Napier, SH Pearce	Endocrinology	2016
Endocrinology of the Testis and Male Reproduction M Simoni, I Huhtaniemi	Endocrinology of the Testis and Male Reproduction	2016
Clinical and molecular review of atypical congenital adrenal hyperplasia T Sahakitrungruang	Annals of Pediatric Endocrinology & Metabolism	2015
Knobil and Neill's Physiology of Reproduction S Franks, K Hardy, GS Conway		2015
Disorders of Sexual Development B McCann-Crosby, VR Sutton	Clinics in Perinatology	2015
Une déshydratation révélant un déficit en 3ßéta Hydroxystéroïde Déshydrogénase: à propos d’un cas H Latrech, A Gaouzi	The Pan African medical journal	2015
Genetic Steroid Disorders DE Reichman, Z Rosenwaks	Genetic Steroid Disorders	2014
Steroidogenesis of the testis – new genes and pathways CE Flück, AV Pandey	Annales d'Endocrinologie	2014
Comprehensive Physiology A Turcu, JM Smith, R Auchus, WE Rainey	Comprehensive Physiology	2014
17-Hydroxyprogesterone in children, adolescents and adults JW Honour	Annals of Clinical Biochemistry	2014
Emery and Rimoin's Principles and Practice of Medical Genetics DC Wallace, MT Lott, V Procaccio	Emery and Rimoin's Principles and Practice of Medical Genetics	2013
Low-dose effects of bisphenol A on early sexual development in male and female rats S Christiansen, M Axelstad, J Boberg, AM Vinggaard, GA Pedersen, U Hass	Reproduction	2013
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases N Blau, M Duran, KM Gibson, CD Vici		2013
Caucasian male infants and boys with hypospadias exhibit reduced anogenital distance MH Hsieh, ML Eisenberg, AB Hittelman, JM Wilson, GE Tasian, LS Baskin	Human Reproduction	2012
Campbell-Walsh Urology I Singh, JW Strandhoy, DG Assimos	Campbell-Walsh Urology	2012
A brief history of adrenal research WL Miller	Molecular and Cellular Endocrinology	2012
Review and management of 46,XY Disorders of Sex Development EZ Massanyi, HN DiCarlo, CJ Migeon, JP Gearhart	Journal of Pediatric Urology	2012
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders WL Miller, RJ Auchus	Endocrine reviews	2011
Advances in Clinical Chemistry M Mahler	Advances in Clinical Chemistry Volume 54	2011
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis CH Shackleton	Lipids	2011
The syndrome of 17,20 lyase deficiency WL Miller	The Journal of clinical endocrinology and metabolism	2011
46,XY DSD due to impaired androgen production BB Mendonca, EM Costa, A Belgorosky, MA Rivarola, S Domenice	Best Practice & Research Clinical Endocrinology & Metabolism	2010
Blood pressure and human genetic variation in the general population P Arora, C Newton-Cheh	Current Opinion in Cardiology	2010
46,XX DSD: the masculinised female RJ Auchus, AY Chang	Best Practice & Research Clinical Endocrinology & Metabolism	2010
Bisphenol A: developmental toxicity from early prenatal exposurea MS Golub, KL Wu, FL Kaufman, LH Li, F Moran-Messen, L Zeise, GV Alexeeff, JM Donald	Birth Defects Research Part B: Developmental and Reproductive Toxicology	2010
Vitamins & Hormones KJ Hare, FK Knop	Vitamins & Hormones	2010
Pediatric Urology C Bouvattier	Pediatric Urology	2010
Defects of steroidogenesis A Biason-Lauber, M Boscaro, F Mantero, G Balercia	Journal of Endocrinological Investigation	2010
Yen & Jaffe's Reproductive Endocrinology RA Lobo	Yen & Jaffe's Reproductive Endocrinology	2009
Associations among hypospadias, cryptorchidism, anogenital distance, and endocrine disruption MH Hsieh, BN Breyer, ML Eisenberg, LS Baskin	Current Urology Reports	2008
The Adrenal Cortex and Its Disorders WL Miller, JC Achermann, CE Flück	Pediatric Endocrinology	2008
Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia M Welzel, N Wüstemann, G Ŝimić-Schleicher, HG Dörr, E Schulze, G Shaikh, P Clayton, J Grötzinger, PM Holterhus, FG Riepe	The Journal of clinical endocrinology and metabolism	2008
Laboratory Guide to the Methods in Biochemical Genetics N Blau, M Duran, KM Gibson		2008
Basic concepts and recent developments in human steroid hormone biosynthesis HK Ghayee, RJ Auchus	Reviews in Endocrine and Metabolic Disorders	2007
Avery's Diseases of the Newborn R Chmait, TR Moore	Avery's Diseases of the Newborn	2005
Ambiguous Genitalia in the Newborn G Goodwin, A Caldamone	Avery s Diseases of the Newborn	2005
Causas raras de pseudo-hermafroditismo feminino: quando suspeitar? M Castro, LL Elias	Arquivos brasileiros de endocrinologia e metabologia	2005
Molecular Biology of the 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4 Isomerase Gene Family J Simard, ML Ricketts, S Gingras, P Soucy, FA Feltus, MH Melner	Endocrine reviews	2005
Refining Hormonal Diagnosis of Type II 3β-Hydroxysteroid Dehydrogenase Deficiency in Patients with Premature Pubarche and Hirsutism Based on HSD3B2 Genotyping LM Mermejo, LL Elias, S Marui, AC Moreira, BB Mendonca, M de Castro	The Journal of clinical endocrinology and metabolism	2005
The virilized female: endocrine background MG Forest, M Nicolino, M David, Y Morel	BJU International	2004
The backdoor pathway to dihydrotestosterone RJ Auchus	Trends in Endocrinology & Metabolism	2004
Anomalies de la différenciation sexuelle F Kuttenn, MF d'Acremont, I Mowszowicz	EMC - Endocrinologie - Nutrition	2004
Encyclopedia of Endocrine Diseases J Borén, O Wiklund	Encyclopedia of Endocrine Diseases	2004
Anogenital distance in human male and female newborns: a descriptive, cross-sectional study E Salazar-Martinez, P Romano-Riquer, E Yanez-Marquez, MP Longnecker, M Hernandez-Avila	Environmental Health	2004
Molecular Study of the 3β-Hydroxysteroid Dehydrogenase Gene Type II in Patients with Hypospadias E Codner, C Okuma, G Iñiguez, MA Boric, A Avila, MC Johnson, FG Cassorla	The Journal of clinical endocrinology and metabolism	2004
Paediatric and Adolescent Gynaecology: A Multidisciplinary Approach AH Balen, SM Creighton, MC Davies, J MacDougall, R Stanhope		2004
Inborn errors of adrenal steroidogenesis MI New	Molecular and Cellular Endocrinology	2003
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases N Blau, M Duran, ME Blaskovics, KM Gibson		2003
Methods in Cell Biology JW Smith	Methods in cell biology	2002
Bases Moleculares da Hiperplasia Adrenal Congênita MP de Mello, TA Bachega, M Costa-Santos, LM Mermejo, M Castro	Arquivos brasileiros de endocrinologia e metabologia	2002
The Diagnosis of Congenital Adrenal Hyperplasia in the Newborn by Gas Chromatography/Mass Spectrometry Analysis of Random Urine Specimens MP Caulfield, T Lynn, ME Gottschalk, KL Jones, NF Taylor, EM Malunowicz, CH Shackleton, RE Reitz, DA Fisher	The Journal of clinical endocrinology and metabolism	2002
CONGENITAL ADRENAL HYPERPLASIA OWING TO 3β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY S Pang	Endocrinology & Metabolism Clinics of North America	2001
Molekularmedizinische Grundlagen von Endokrinopathien D Ganten, K Ruckpaul, OE Janssen, AE Heufelder		2001
Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids S Marui, AJ Russell, FJ Paula, I Dick-de-Paula, JA Marcondes, BB Mendonca	Fertility and Sterility	2000
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls Marui, Castro, Latronico, Elias, Arnhold, Moreira, Mendonca	Clinical Endocrinology	2000
Characterization of Two Novel Homozygous Missense Mutations Involving Codon 6 and 259 of Type II 3β-Hydroxysteroid Dehydrogenase (3βHSD) Gene Causing, Respectively, Nonsalt-Wasting and Salt-Wasting 3βHSD Deficiency Disorder1 L Zhang, JI Mason, Y Naiki, KC Copeland, M Castro-Magana, TT Gordon-Walker, YT Chang, S Pang	The Journal of clinical endocrinology and metabolism	2000
Single-Gene Mutations Resulting in Reproductive Dysfunction in Women FH Epstein, EY Adashi, JD Hennebold	New England Journal of Medicine	1999
New Insight into the Molecular Basis of 3β-Hydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzymes1 AM Moisan, ML Ricketts, V Tardy, M Desrochers, F Mébarki, JL Chaussain, S Cabrol, MC Raux-Demay, MG Forest, WG Sippell, M Peter, Y Morel, J Simard	The Journal of clinical endocrinology and metabolism	1999
Molecular medicine of steroid hormone biosynthesis A Biason-Lauber	Molecular Aspects of Medicine	1998
Variants of the Type II 3β-Hydroxysteroid Dehydrogenase Gene in Children with Premature Pubic Hair and Hyperandrogenic Adolescents S Nayak, PA Lee, SF Witchel	Molecular Genetics and Metabolism	1998
Non-classic adrenal hyperplasia in hyperandrogenism: A reappraisal C Morán, ES Knochenhauer, R Azziz	Journal of Endocrinological Investigation	1998
Diagnosis and management of ambiguous genitalia LD Sherman	The Indian Journal of Pediatrics	1997
The multiple murine 3β-hydroxysteroid dehydrogenase isoforms: Structure, function, and tissue- and developmentally specific expression AH Payne, IG Abbaszade, TR Clarke, PA Bain, CH Park	Steroids	1997
Vaccinia virus immune evasion GL Smith, JA Symons, A Khanna, A Vanderplasschen, A Alcami	Immunological Reviews	1997
Gynecological Endocrinology and Reproductive Medicine B Runnebaum, T Rabe		1997
Congenital Adrenal Hyperplasia JB Levy, DA Husmann	The Journal of Urology	1996
Signal Transduction in Testicular Cells V Hansson, FO Levy, K Taskén		1996
Genetic disorders of steroid hormone synthesis and metabolism MI New, PC White	Baillière's Clinical Endocrinology and Metabolism	1995
The murine 3β-hydroxysteroid dehydrogenase multigene family: Structure, function and tissue-specific expression AH Payne, TR Clarke, PA Bain	The Journal of Steroid Biochemistry and Molecular Biology	1995
Structure-function relationships and molecular genetics of the 3β-hydroxysteroid dehydrogenase gene family J Simard, R Sanchez, F Durocher, E Rhéaume, C Turgeon, Y Labrie, V Luu-The, F Mebarki, Y Morel, Y Launoit, F Labrie	The Journal of Steroid Biochemistry and Molecular Biology	1995
Molecular basis of human 3β-hydroxysteroid dehydrogenase deficiency J Simard, E Rheaume, F Mebarki, R Sanchez, MI New, Y Morel, F Labrie	The Journal of Steroid Biochemistry and Molecular Biology	1995
Transient virilization in early puberty JE Hersh, D Muram, CE Jones, BR Hostetler	Adolescent and Pediatric Gynecology	1995
Non-Classical 3ß-Hydroxysteroid Dehydrogenase Deficiency in Children in Central Iowa. Difficulties in Differentiating this Entity from Cases of Precocious Adrenarche Without an Adrenal Enzyme Defect DM Cathro, SG Golombek	Journal of Pediatric Endocrinology and Metabolism	1994
11 Structure, regulation and role of 3β-hydroxysteroid dehydrogenase, 17β-hydroxysteroid dehydrogenase and aromatase enzymes in the formation of sex steroids in classical and peripheral intracrine tissues F Labrie, J Simard, V Luu-The, G Pelletier, K Belghmi, A Bélanger	Baillière's Clinical Endocrinology and Metabolism	1994
Function of Somatic Cells in the Testis A Bartke		1994
Marshall’s Physiology of Reproduction GE Lamming		1994
Gynäkologische Endokrinologie und Fortpflanzungsmedizin B Runnebaum, T Rabe		1994
Congenital adrenal hyperplasia PW Speiser, PC White, MI New	Reproductive Medicine Review	1993
Male psuedohermaphroditism caused by nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency UE Heinrich, M Bettendorf, P Vecsei	The Journal of Steroid Biochemistry and Molecular Biology	1993
3β-Hydroxysteroid dehydrogenase deficiency in hyperandrogenism R Azziz, EL Bradley, HD Potter, LR Boots	American Journal of Obstetrics and Gynecology	1993
Molecular Basis of Reproductive Endocrinology PC Leung, AJ Hsueh, HG Friesen		1993
Steroid enzyme defects leading to male pseudohermaphroditism MG Forest	The Indian Journal of Pediatrics	1992
Congenital adrenal hyperplasia due to point mutations in the type II 3β–hydroxysteroid dehydrogenase gene E Rhéaume, J Simard, Y Morel, F Mebarki, M Zachmann, MG Forest, MI New, F Labrie	Nature Genetics	1992
Investigation of adrenal function in women with oligomenorrhoea and hirsutism (clinical PCOS) from the north-east of England using an adrenal stimulation test EI Turner, MJ Watson, LA Perry, MC White	Clinical Endocrinology	1992
Delayed Involution of the Fetal Adrenal Cortex in Two Infants Simulating Non-Salt-Losing Congenital Adrenal Hyperplasia Due to a Deficiency of 3ß-Hydroxysteroid Dehydrogenase AH Slyper, DT Wyatt, SC Duck	Journal of Pediatric Endocrinology and Metabolism	1992
The incidence of late-onset congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency among hirsute women J Mathieson, B Couzinet, S Wekstein-Noel, K Nahoui, G Turpin, G Schaison	Clinical Endocrinology	1992
Structure and tissue-specific expression of 3ß-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase genes in human and rat classical and peripheral steroidogenic tissues F Labrie, J Simard, V Luu-The, G Pelletier, A Bélanger, Y Lachance, HF Zhao, C Labrie, N Breton, Y Launoit, M Dumont, E Dupont, E Rhéaume, C Martel, J Couët, C Trudel	The Journal of Steroid Biochemistry and Molecular Biology	1992
Ontogeny and subcellular localization of 3β-hydroxysteroid dehydrogenase (3β-HSD) in the human and rat adrenal, ovary and testis G Pelletier, E Dupont, J Simard, V Luu-The, A Bélanger, F Labrie	The Journal of Steroid Biochemistry and Molecular Biology	1992
Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues F Labrie, J Simard, V Luu-The, A Bélanger, G Pelletier	The Journal of Steroid Biochemistry and Molecular Biology	1992
Nonclassical 3β-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients**Supported by United States Public Health Service, National Institutes of Health, Bethesda, Maryland, grant awards HD00072 and RR 06020. Support was also received from the United Jewish Appeal: Federation of Jewish Philantrophies of New York, Inc; and the Reichman Family Fund (Olympia and York [US] Holdings Co., New York New York).††Presented in part at the 72nd Annual Meeting of The Endocrine Society, Atlanta, Georgia, June 20 to 23, 1990 P Schram, M Zerah, P Mani, R Jewelewicz, S Jaffe, MI New	Fertility and Sterility	1992
3β-Hydroxysteroid Dehydrogenase (3β-HSD) Deficiency in a Boy LS de Moura	Journal of Pediatric Endocrinology and Metabolism	1991
Structure of the Human Type II 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4Isomerase (3β-HSD) Gene: Adrenal and Gonadal Specificity Y Lachance, V Luu-The, H Verreault, M Dumont, E Rhéaume, G Leblanc, F Labrie	DNA and Cell Biology	1991
Isolated dehydroepiandrosterone sulphate hypersecretion: A case report G Radetti, E Cacciari, M Zachmann	European Journal of Pediatrics	1990
Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD) CB Whorwood, J Montalto, SR Sandars, JF Connelly	Journal of Steroid Biochemistry	1990
Diseases of the adrenal cortex CR Kannan	Disease-a-Month	1988
The Adrenal Gland CR Kannan		1988
Congenital adrenal hyperplasia: basic physiology, clinical presentation and management NG Greger, SK Varma	The Indian Journal of Pediatrics	1987
Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis BG Wolthers, IJ Vries, M Volmer, GT Nagel	Clinica Chimica Acta	1987
Evidence that the same structural gene encodes testicular and adrenal 3?-hydroxysteroid dehydrogenase-isomerase JR Stalvey, MH Meisler, AH Payne	Biochemical Genetics	1987
Gynäkologische Endokrinologie B Runnebaum, T Rabe	Gynäkologische Endokrinologie	1987
Perinatal Genetics MI New	Perinatal Genetics	1986
Normal ovarian function in a mild form of late-onset 3β-hydroxysteroid dehydrogenase deficiency**Supported in part by a grant from the Mexican Research Council for Science and Technology (CONACYT) M Medina, J Herrera, M Flores, O Martin, JA Bermúdez, A Zárate	Fertility and Sterility	1986
Dynamic testing in reproductive endocrinology EE Wallach, WD Schlaff	Fertility and Sterility	1986
Human Growth F Falkner, JM Tanner		1986
Clinical Endocrinology A Labhart	Clinical Endocrinology	1986
Detection of 3β-hydroxysteroid-dehydrogenase deficiency by urinary steroid profiling: solvolysis of urinary samples should be a necessary prerequisite BG Wolthers, M Volmera, AP Seters	Clinica Chimica Acta	1985
Prenatal Therapy in Congenital Adrenal Hyperplasia Attempted Prevention of Abnormal External Genital Masculinization by Pharmacologic Suppression of the Fetal Adrenal Gland in Utero GP Chrousos, MI Evans, DL Loriaux, JA McCLUSKEY, JC Fletcher, JD Schulman	Annals of the New York Academy of Sciences	1985
Female pseudohermaphroditism with adrenal cortical tumor in adulthood R Coslovsky, M Ashkenazy, M Lancet, A Barash, R Borenstein	Journal of Endocrinological Investigation	1985
Elevated 17-Hydroxyprogesterone and Testosterone in a Newborn with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency JF Cara, T Moshang, AM Bongiovanni, BS Marx	New England Journal of Medicine	1985
Principles of Medical Therapy in Pregnancy N Gleicher		1985
Abnormal sex differentiation P Saenger	The Journal of Pediatrics	1984
Endocrine Disorders LH Rees	Endocrine Disorders	1984
The response of several adrenocortical steroids to the administration of ACTH in hirsute women AM Bongiovanni	Journal of Steroid Biochemistry	1983
Increased urinary excretion of total 16α-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency J Homoki, WM Teller	Klinische Wochenschrift	1982
Congenital and acquired disorders of the adrenal cortex IA Hughes	Clinics in Endocrinology and Metabolism	1982
Formation of 22-keto-cholesterol from 22S-hydroxy-cholesterol by a NADPH and O2 dependent, co-insensitive enzyme in bovine adrenal cortex mitochondria GJ Alsema, HJ Degenhart, J Hoogerbrugge	Journal of Steroid Biochemistry	1982
Hirsutism and Weight Gain in a Woman with Normal Plasma Testosterone JR Givens, JL Frye	Hospital Practice	1982
Endokrinologie des Kindes- und Jugendalters H Stolecke		1982
Proceedings of the 1980 Laurentian Hormone Conference MI New, B Dupont, S Pang, M Pollack, LS Levine	Proceedings of the 1980 Laurentian Hormone Conference	1981
Acquired adrenal hyperplasia: with special reference to 3β-hydroxysteroid dehydrogenase EE Wallach, AM Bongiovanni	Fertility and Sterility	1981
Genetic Disorders, Syndromology and Prenatal Diagnosis TV Persaud		1981
Pathologie der endokrinen Organe E Altenähr, W Bröcker, G Dhom, W Gusek, PU Heitz, G Klöppel, H Lietz, H Mitschke, W Saeger, HJ Schäfer, JJ Staub, H Steiner		1981
The diagnosis and management of intersex RL Rosenfield, AW Lucky, TD Allen	Current Problems in Pediatrics	1980
Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency AM Bongiovanni	Journal of Steroid Biochemistry	1980
Inborn Error in the Terminal Step of Aldosterone Biosynthesis: Corticosterone Methyl Oxidase Type II Deficiency in a North American Pedigree JD Veldhuis, HE Kulin, RJ Santen, TE Wilson, JC Melby	New England Journal of Medicine	1980
XY females with enzyme deficiencies of steroid metabolism: A brief review K Madan, J Schoemaker	Human Genetics	1980
Advances in Human Genetics 10 H Harris, K Hirschhorn		1980
Diagnosis in Andrology J Bain, ES Hafez		1980
Pseudovaginal Perineoscrotal Hypospadias: Genetic Heterogeneity BS Keenan	The Urologic clinics of North America	1980
Isolation of urinary C-20α- and C-20β-hydroxy-C21-steroid metabolites in cases of congenital adrenal hyperplasia, postpubertal virilizing syndrome and polycystic ovary syndrome G Halperin, I Maschler	Steroids	1979
A VIRILIZING ADRENAL TUMOR WITH BORDERLINE ELEVATION OF URINARY 17-KETOSTEROIDS AND HISTOCHEMICAL DEMONSTRATION OF A DEFICIENCY IN THE δ5/δ4-ISOMERASE, 3β-HYDROXYSTEROID DEHYDROGENASE ENZYMATIC SYSTEM RM Neto, JA de Oliveira, MF Sa, J Cornicelli	Acta Paediatrica	1979
Birth Defects Compendium D Bergsma	Birth Defects Compendium	1979
The activation of microsomal steroid 21-hydroxylase by cytosol from the cortex of bovine adrenals FI Chasalow, S Lieberman	The Journal of biological chemistry	1979
ABNORMALITIES OF GONADAL FUNCTION IN MEN WD Odell, RS Swerdloff	Clinical Endocrinology	1978
Perinatal Physiology U Stave		1978
Klinik der inneren Sekretion A Labhart		1978
Principles and Prenatal Growth F Falkner, JM Tanner		1978
Hereditary Male Pseudohermaphroditism JE Griffin, JD Wilson		1978
Male pseudohermaphroditism: Genetics and Clinical delineation JL Simpson	Human Genetics	1978
Male hypogonadism WD Odell, RS Swerdloff	The Western journal of medicine	1976
Diagnosis and treatment of disorders of the adrenal cortex LG Lagerquist, FH Tyler	Pharmacology & Therapeutics Part C Clinical Pharmacology and Therapeutics	1976
Paper and Thin Layer Chromatography RW Edwards	Paper and Thin Layer Chromatography	1976
Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia G Schneider, M Genel, AM Bongiovanni, AS Goldman, RL Rosenfield	Journal of Clinical Investigation	1975
Essentials of Gynecologic and Obstetric Endocrinology H Bacchus		1975
Effect of age, obesity, starvation, and changes in adrenocortical and ovarian activity on the urinary excretion of dehydroepiandrosterone relative to androsterone + etiocholanolone: Relevance to the measurement of breast cancer discriminants in women MG Metcalf	Clinical Biochemistry	1974
Current Topics in Experimental Endocrinology M Jutisz, C Tertrin-Clary	Current Topics in Experimental Endocrinology	1974
Familial Incomplete Male Pseudohermaphroditism, Type 1: Evidence for Androgen Resistance and Variable Clinical Manifestations in a Family with the Reifenstein Syndrome JD Wilson, MJ Harrod, JL Goldstein, DL Hemsell, PC MacDonald	New England Journal of Medicine	1974
SALT WASTAGE, RAISED PLASMA-RENIN ACTIVITY, AND NORMAL OR HIGH PLASMA-ALDOSTERONE: A FORM OF PSEUDOHYPOALDOSTERONISM A Rösler, E Gazit, R Theodor, H Biochis, D Rabinowitz	The Lancet	1973
Androgene I HE Voss, G Oertel		1973
STEROID 17, 20-DESMOLASE DEFICIENCY: A NEW CAUSE OF MALE PSEUDOHERMAPHRODITISM M Zachmann, JA Völlmin, W Hamilton, A Prader	Clinical Endocrinology	1972
Fetal-Placental Disorders LD Longo	Fetal-Placental Disorders	1972
Bile acids and hormonal steroids in bile of a boy with 3β-hydroxysteroid dehydrogenase deficiency T Laatikainen, J Perheentupa, R Vihko, I Makino, J Sjövall	Journal of Steroid Biochemistry	1972
Steroid dehydrogenases in rabbit liver of various developmental stages AM Bongiovanni, J Marino	Journal of Steroid Biochemistry	1972
Urinary excretion of pregnanetriol and Δ⁵-pregnenetriol in two forms of congenital adrenal hyperplasia AM Bongiovanni, WR Eberlein, T Moshang	Journal of Clinical Investigation	1971
Male pseudohermaphroditism due to 17α-hydroxylase deficiency MI New	Journal of Clinical Investigation	1970
Metabolism of Steroids in Germfree and Conventional Rats Treated with a 3beta-Hydroxy-delta5-Steroid Oxidoreductase Inhibitor I Bjorkhem, JA Gustafsson, SA Gustafsson	European Journal of Biochemistry	1970
AN AUTOPSY CASE OF CONGENITAL LIPOID HYPERPLASIA OF THE ADRENAL CORTEX Y TSUTSUI, N HIRABAYASHI, G ITO	Pathology International	1970
Metabolic Conjugation and Metabolic Hydrolysis JR Pasqualini	Metabolic Conjugation and Metabolic Hydrolysis	1970
Maternal-Fetal Hormone Relationships WW Cleveland	Pediatric Clinics of North America	1970
Corticosteroid Therapy in the Neonatal Period HD Klevit	Pediatric Clinics of North America	1970
Ambiguous genitals due to congenital adrenal hyperplasia HO Williamson	American Journal of Obstetrics and Gynecology	1970
Endokrinologie der Entwicklung und Reifung J Kracht		1970
Chemical and Biological Aspects of Steroid Conjugation S Bernstein, S Solomon		1970
Characterization and estimation of urinary steroids of the newborn human by gas-phase analytical methods MG Horning, EC Chambaz, CJ Brooks, AM Moss, EA Boucher, EC Horning, RM Hill	Analytical Biochemistry	1969
Chromatography RW Edwards	Chromatographia	1969
Development of Endocrine Function in the Human Placenta and Fetus DB Villee	New England Journal of Medicine	1969
Synthesis of 14α-hydroxyprogesterone and its isolation from human late-pregnancy urine BR Bhavnani, EV YoungLai, S Solomon	Biochemistry	1969
The identification and measurement of a new steroid 16β-hydroxydehydroepiandrosterone in infant urine CH Shackleton, RW Kelly, PM Adhikary, CJ Brooks, RA Harkness, PJ Sykes, FL Mitchell	Steroids	1968
Der Hypophysenvorderlappen bei den kongenitalen adrenogenitalen Syndromen K Jendricke	Virchows Archiv für Pathologische Anatomie und Physiologie und für Klinische Medizin	1968
Malformations AD Amar, OS Culp, F Farman, JA Hutch, HW Jones, VF Marshall, JW McRoberts, EC Muecke, JJ Murphy, RJ Prentiss, TA Tristan, K Waterhouse		1968
Aspects of Praematurity and Dysmaturity JH Jonxis, HK Visser, JA Troelstra		1968
ADRENAL VIRILISM IN CHILDHOOD RR David	Annals of the New York Academy of Sciences	1967
Proceedings of the 1966 Laurentian Hormone Conference AM Bongiovanni, WR Eberlein, AS Goldman, M New	Proceedings of the 1966 Laurentian Hormone Conference	1967
The in Vivo Metabolism of 16α-Hydroxydehydroisoandrosterone in Man * EY Lai, S Solomon	Biochemistry	1967
17-hydroxylation deficiency in man EG Biglieri, MA Herron, N Brust	Journal of Clinical Investigation	1966
CONGENITAL ADRENAL HYPERPLASIA AL Rosenbloom, DW Smith	The Lancet	1966
Congenital anomalies and congenital adrenal hyperplasia PJ Collipp, NG Irani, F Plachte	California medicine	1966
Lessons from inborn errors of metabolism MD Milne	Proceedings of the Royal Society of Medicine	1966
Urinary steroid pattern of the human newborn infant WL Gardiner, CJ Brooks, EC Horning, RM Hill	Biochimica et Biophysica Acta (BBA) - General Subjects	1966
The identification and quantification of δ5-androstenetriol (3β, 16α, 17β-trihydroxyandrost-5-ene) isolated from the urine of premature infants JW Reynolds	Steroids	1966
Separation, Identification, and Estimation of Human Steroid Hormones and Their Metabolites: Applications to Adrenocortical Steroids EC Horning, CJ Brooks, L Johnson, WL Gardiner	Separation Science	1966
Cushing's syndrome with nodular adrenalhyperplasia in infancy HD Klevit, RA Campbell, HR Blair, AM Bongiovanni	The Journal of Pediatrics	1966
Some Aspects of Endocrinology in the Fetus and the Newborn N Liu	Pediatric Clinics of North America	1966
Fetal-Placental-Maternal Interrelations Involving Steroid Hormones HD Klevit	Pediatric Clinics of North America	1966
Some Newer Inborn Errors of Metabolism HA Waisman	Pediatric Clinics of North America	1966
Failure of Cortisol Biosynthesis RW Edwards		1966
The in Vivo Metabolism of 16α-Hydroxyprogesterone * JL Ruse, S Solomon	Biochemistry	1966
Pädiatrische Diagnostik / Pädiatrische Therapie T Hellbrügge, E Ambs, KD Bachmann, HJ Bandmann, H Berger, G Biermann, K Brück, K Bühlmeyer, H Büttner, H Derichsweiler, H Doesel, KD Ebel, J Ehrengut-Lange, W Ey, H Förster, KW Frey, FK Friederiszick, O Goetz, F Graser, E Gründig, H Haid, H Haupt, M Hertl, E Hipp, WH Hitzig, G Hör, R Kaiser, M Kaltenbach, M Kienitz, HM Kirschsieper, H Klepzig, D Knorr, G Koch, WF Körner, W Kosenow, W Künzer, B Leiber, H Ludwig, A Matthes, H Mehnert, H Müller, E Nessel, HG Nöller, A Nover, P Palmié, E Pankok, G Piekarski, R Richterich, H Rodeck, J Rutenfranz, M Saathoff, F Schmid, H Schmidt-Rohr, K Schreier, A Schwenk, G von Staabs, G Stalder, K Stehr, A Struppler, W Swoboda, H Tritsch, D Vogt, J Wenner, U Wiesmann, E Wildhirt, HG Wolf, E Zapp, W Zierl, N Zöllner, E Zweymüller, J Becker, W Burmeister, HJ Frischbier, H Gött, H Götz, U Grüninger, GA von Harnack, K Hartung, D Helbig, H Helwig, HW Hertel, W Herzig, T Hockerts, O Hövels, O Hug, O Jírovec, H Kaiser, U Keuth, Koch, G Kölle, W Marget, R Marx, W Menger, H Moll, H Mommsen, K Nitsch, J Oehme, J Pechstein, M Petrů, R Preuner, D Reiss, M Reiter, PC Schmid, GW Schmidt, EG Schultze, R Thurau, E Vanek, A Wiskemann		1966
Origin of Estrogen in Women Pregnant with an Anencephalic Fetus^* PC Macdonald, PK Siteri	Journal of Clinical Investigation	1965
Impaired Aldosterone Production in “Salt-losing” Congenital Adrenal Hyperplasia^* GT Bryan, B Kliman, FC Bartter	Journal of Clinical Investigation	1965
Absorption spectra of Δ5-3β-hydroxy steroids in two reagents AM Bongiovanni	Analytical Biochemistry	1965
Adrenocortical 11β-Hydroxylase Deficiency and Virilism First Manifest in the Adult Woman JL Gabrilove, DC Sharma, RI Dorfman	New England Journal of Medicine	1965
Steroid Metabolism in the Fetus and the Newborn Infant OC Green	Pediatric Clinics of North America	1965
Fortschritte der Pädologie F Linneweh		1965
3 : 21-Dihydroxypregn-5-ene-20-one in Urine of Normal Newborn Infants and in Third Day Urine of Child with Deficiency of 3 -hydroxysteroid-dehydrogenase DM Cathro, K Birchall, FL Mitchell, CC Forsyth	Archives of disease in childhood	1965
Die Nebennierenrinde im Kindesalter G Dhom		1965
The isolation of 16-ketoandrostenediol (3β,17β-dihydroxyandrost-5-en-16-one) from the urine of a newborn infant JV Reynolds	Steroids	1964
The δ5-3β-hxirqxysteroid dehydrogenases of corpus luteum and adrenal. II. interaction of c19 and C21 substrates and products J Kowal, E Forchielli, RI Dorfman	Steroids	1964
The Adrenocortical Hormones HW Deane, BL Rubin		1964
Application of genetic regulatory mechanisms to human genetics WC Parker, AG Bearn	The American Journal of Medicine	1963
Medical genetics 1962 VA McKusick, H Abbey, M Bartalos, P Bowen, SH Boyer, BH Cohen, DM Danks, Y Duchastel, AE Emery, EJ Epstein, DC Fainer, R Finn, WM Ginn, MF Glynn, RM Goodman, MR Hawkins, DV Haws, BN Kaufmann, CS Lee, AB McKusick, EA Murphy, H Punnett, RP Russell, BS Sayli, RW Sherwin, S Temtamy, R Weber, D Wise, JC Woodrow, WJ Young	Journal of Chronic Diseases	1963
Familial Abnormalities in Adrenocortical Function RS Stempfel, RC Franks	Pediatric Clinics of North America	1963
Metabolism and Excretion of Steroids in Man JK Grant		1963
Metabolism of Progesterone-4-C14 and Pregnenolone-7α-H3 by Human Adrenal Tissue I Weliky, LL Engel	The Journal of biological chemistry	1963
Aldosterone B Zimmermann, WH Moran	The American Journal of Surgery	1960
Urology in Childhood DI Williams		1958
The Adrenogenital Syndrome RN Meyer, AM Hindrum	Acta Medica Scandinavica	1954

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