{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:32:44Z","timestamp":1767843164774,"version":"3.49.0"},"reference-count":119,"publisher":"Elsevier","isbn-type":[{"value":"9780128143612","type":"print"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1016\/bs.vh.2018.05.002","type":"book-chapter","created":{"date-parts":[[2018,6,30]],"date-time":"2018-06-30T10:05:11Z","timestamp":1530353111000},"page":"75-123","source":"Crossref","is-referenced-by-count":9,"title":["Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone"],"prefix":"10.1016","author":[{"given":"Maria Sonia","family":"Baquedano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Guercio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Costanzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana","family":"Marino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco A.","family":"Rivarola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Belgorosky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0010","first-page":"1968","article-title":"A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: Evaluation of gonadal function after puberty","volume":"85","author":"Alos","year":"2000","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"1 spec. issue","key":"10.1016\/bs.vh.2018.05.002_bb0015","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s11154-008-9098-9","article-title":"The adrenal cortex and sexual differentiation during early human development","volume":"10","author":"Asby","year":"2009","journal-title":"Reviews in Endocrine & Metabolic Disorders"},{"issue":"9","key":"10.1016\/bs.vh.2018.05.002_bb0020","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.tem.2004.09.004","article-title":"The backdoor pathway to dihydrotestosterone","volume":"15","author":"Auchus","year":"2004","journal-title":"Trends in Endocrinology and Metabolism: TEM"},{"key":"10.1016\/bs.vh.2018.05.002_bb0025","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1159\/000321209","article-title":"The physiology and biochemistry of adrenarche","volume":"20","author":"Auchus","year":"2011","journal-title":"Endocrine Development"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0030","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.beem.2009.11.001","article-title":"46,XX DSD: The masculinised female","volume":"24","author":"Auchus","year":"2010","journal-title":"Best Practice & Research Clinical Endocrinology & Metabolism"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0035","doi-asserted-by":"crossref","first-page":"3158","DOI":"10.1074\/jbc.273.6.3158","article-title":"Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer","volume":"273","author":"Auchus","year":"1998","journal-title":"The Journal of Biological Chemistry"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0040","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1055\/s-0032-1324726","article-title":"Defects in androgen biosynthesis causing 46,XY disorders of sexual development","volume":"30","author":"Auchus","year":"2012","journal-title":"Seminars in Reproductive Medicine"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0045","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.medcli.2015.04.004","article-title":"Partial 3\u00df-hydroxysteroid dehydrogenase type 2 deficiency: Diagnosis of a novel mutation after positive newborn screening for 21-hydroxylase deficiency","volume":"146","author":"Bah\u00edllo-Curieses","year":"2016","journal-title":"Medicina Cl\u00ednica"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0050","doi-asserted-by":"crossref","first-page":"E191","DOI":"10.1210\/jc.2014-2676","article-title":"A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. New insight into the structure-function relationships of 3\u03b2-hydroxysteroid dehydrogenase type II","volume":"100","author":"Baquedano","year":"2015","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"3 Suppl","key":"10.1016\/bs.vh.2018.05.002_bb0055","first-page":"E320","article-title":"Expression of androgen receptor (AR) and the alternative \u201cBackdoor\u201d pathway to dihydrotestosterone (DHT) in normal and 21-hydroxylase deficient human adrenal cortex","volume":"35","author":"Baquedano","year":"2014","journal-title":"Endocrine Reviews"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0060","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1159\/000157871","article-title":"Adrenarche: Postnatal adrenal zonation and hormonal and metabolic regulation","volume":"70","author":"Belgorosky","year":"2008","journal-title":"Hormone Research"},{"issue":"8","key":"10.1016\/bs.vh.2018.05.002_bb0065","doi-asserted-by":"crossref","first-page":"E1105","DOI":"10.1210\/jc.2015-2098","article-title":"Severe salt-losing 3\u03b2-hydroxysteroid dehydrogenase deficiency: Treatment and outcomes of HSD3B2 c.35G>A homozygotes","volume":"100","author":"Benkert","year":"2015","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0070","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1159\/000444712","article-title":"A new homozygous frameshift mutation in the HSD3B2 gene in an apparently nonconsanguineous Italian family","volume":"86","author":"Bizzarri","year":"2016","journal-title":"Hormone Research in P\u00e6diatrics"},{"issue":"15","key":"10.1016\/bs.vh.2018.05.002_bb0075","doi-asserted-by":"crossref","first-page":"7247","DOI":"10.1073\/pnas.91.15.7247","article-title":"The mitochondrial environment is required for activity of the cholesterol side-chain cleavage enzyme, cytochrome P450scc","volume":"91","author":"Black","year":"1994","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0080","doi-asserted-by":"crossref","first-page":"K1","DOI":"10.1530\/EJE-15-0599","article-title":"Human 3\u03b2-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: Lesson from an experiment of nature","volume":"173","author":"Burckhardt","year":"2015","journal-title":"European Journal of Endocrinology"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0085","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1210\/edrv-3-4-396","article-title":"Extraadrenal formation of a mineralocorticosteroid: Deoxycorticosterone and deoxycorticosterone sulfate biosynthesis and metabolism","volume":"3","author":"Casey","year":"1982","journal-title":"Endocrine Reviews"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0090","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1203\/00006450-199311000-00026","article-title":"Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia","volume":"34","author":"Chang","year":"1993","journal-title":"Pediatric Research"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0095","first-page":"1251","article-title":"Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia","volume":"77","author":"Chang","year":"1993","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0100","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1210\/jc.2002-020873","article-title":"Molecular study of the 3\u03b2-hydroxysteroid dehydrogenase gene type II in patients with hypospadias","volume":"89","author":"Codner","year":"2004","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0105","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1203\/00006450-199903000-00016","article-title":"Decrease in the expression of the 3beta-hydroxysteroid dehydrogenase gene in human adrenal tissue during prepuberty and early puberty: Implications for the mechanism of adrenarche","volume":"45","author":"Dardis","year":"1999","journal-title":"Pediatric Research"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0110","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1590\/0004-2730000003098","article-title":"3\u03b2-Hydroxysteroid dehydrogenase type II deficiency on newborn screening test","volume":"58","author":"de Ara\u00fajo","year":"2014","journal-title":"Arquivos Brasileiros de Endocrinologia e Metabologia"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0115","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1210\/jcem-43-5-982","article-title":"Unconjugated dehydroepiandrosterone plasma levels in normal subjects from birth to adolescence in human: The use of a sensitive radioimmunoassay 1","volume":"43","author":"de Peretti","year":"1976","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"key":"10.1016\/bs.vh.2018.05.002_bb9000","series-title":"Adrenal androgens","first-page":"141","article-title":"Endocrine studies in two children with male pseudohermapbroditism due to to S\/3-hydroxysteroid dehydrogenase defect","author":"De Peretti","year":"1980"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0120","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS recommendations for the description of sequence variants: 2016 update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Human Mutation"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0125","doi-asserted-by":"crossref","first-page":"E257","DOI":"10.1210\/jc.2013-3279","article-title":"Isoform-specific monoclonal antibodies against 3\u03b2-hydroxysteroid dehydrogenase\/isomerase family provide markers for subclassification of human primary aldosteronism","volume":"99","author":"Doi","year":"2014","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"10","key":"10.1016\/bs.vh.2018.05.002_bb9005","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.tem.2005.10.004","article-title":"Genetic analysis of adrenal absence: Agenesis and aplasia","volume":"16","author":"Else","year":"2005","journal-title":"Trends in Endocrinology and Metabolism"},{"issue":"10","key":"10.1016\/bs.vh.2018.05.002_bb0130","first-page":"3558","article-title":"The zona reticularis is the site of biosynthesis of dehydroepiandrosterone and dehydroepiandrosterone sulfate in the adult human adrenal cortex resulting from its low expression of 3 beta-hydroxysteroid dehydrogenase","volume":"81","author":"Endoh","year":"1996","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0135","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ajhg.2011.06.009","article-title":"Why boys will be boys: Two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation","volume":"89","author":"Fl\u00fcck","year":"2011","journal-title":"The American Journal of Human Genetics"},{"issue":"10","key":"10.1016\/bs.vh.2018.05.002_bb0140","first-page":"3695","article-title":"Adrenarche results from development of a 3beta-hydroxysteroid dehydrogenase-deficient adrenal reticularis","volume":"83","author":"Gell","year":"1998","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"7","key":"10.1016\/bs.vh.2018.05.002_bb0145","first-page":"647","article-title":"Congenital adrenal hyperplasia due to blockade of 3-beta-hydroxysteroid dehydrogenase","volume":"36","author":"Gendrel","year":"1979","journal-title":"Archives Fran\u00e7aises de P\u00e9diatrie"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0150","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s11154-007-9052-2","article-title":"Basic concepts and recent developments in human steroid hormone biosynthesis","volume":"8","author":"Ghayee","year":"2007","journal-title":"Reviews in Endocrine & Metabolic Disorders"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0155","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1172\/JCI25091","article-title":"In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development","volume":"116","author":"Goto","year":"2006","journal-title":"The Journal of Clinical Investigation"},{"issue":"12","key":"10.1016\/bs.vh.2018.05.002_bb0160","first-page":"4677","article-title":"Estrogen: Consequences and implications of human mutations in synthesis and action","volume":"84","author":"Grumbach","year":"1999","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0165","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.abb.2003.07.003","article-title":"5alpha-reduced C21 steroids are substrates for human cytochrome P450c17","volume":"418","author":"Gupta","year":"2003","journal-title":"Archives of Biochemistry and Biophysics"},{"issue":"10","key":"10.1016\/bs.vh.2018.05.002_bb0170","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.tem.2006.10.001","article-title":"The human fetal adrenal cortex and the window of sexual differentiation","volume":"17","author":"Hanley","year":"2006","journal-title":"Trends in Endocrinology and Metabolism: TEM"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0175","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1055\/s-2004-861550","article-title":"The rise in adrenal androgen biosynthesis: Adrenarche","volume":"22","author":"Havelock","year":"2004","journal-title":"Seminars in Reproductive Medicine"},{"issue":"7","key":"10.1016\/bs.vh.2018.05.002_bb0180","doi-asserted-by":"crossref","first-page":"2643","DOI":"10.1210\/jc.2005-2460","article-title":"Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: Implication for the backdoor pathway to dihydrotestosterone","volume":"91","author":"Homma","year":"2006","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"12","key":"10.1016\/bs.vh.2018.05.002_bb0185","first-page":"948","article-title":"A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3\u03b2-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: A delayed diagnosis until recurrent ovary cysts","volume":"52","author":"Huang","year":"2014","journal-title":"Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0190","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1677\/JOE-09-0127","article-title":"Development of the human adrenal zona reticularis: Morphometric and immunohistochemical studies from birth to adolescence","volume":"203","author":"Hui","year":"2009","journal-title":"Journal of Endocrinology"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0195","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1210\/er.2010-0001","article-title":"Development and function of the human fetal adrenal cortex: A key component in the feto-placental unit","volume":"32","author":"Ishimoto","year":"2011","journal-title":"Endocrine Reviews"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0200","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1159\/000336004","article-title":"A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3\u03b2-hydroxysteroid dehydrogenase deficiency: An unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency","volume":"77","author":"Jeandron","year":"2012","journal-title":"Hormone Research in P\u00e6diatrics"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0205","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1210\/jc.2004-1374","article-title":"Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency","volume":"90","author":"Johannsen","year":"2005","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"13","key":"10.1016\/bs.vh.2018.05.002_bb0210","doi-asserted-by":"crossref","first-page":"4715","DOI":"10.1073\/pnas.83.13.4715","article-title":"Transcriptional regulation of steroid hydroxylase genes by corticotropin","volume":"83","author":"John","year":"1986","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1016\/bs.vh.2018.05.002_bb0215","first-page":"1797","article-title":"Modified release and conventional glucocorticoids and diurnal androgen excretion in congenital adrenal hyperplasia","volume":"102","author":"Jones","year":"2017","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0220","doi-asserted-by":"crossref","first-page":"E367","DOI":"10.1210\/jc.2011-1997","article-title":"Increased activation of the alternative \u201cbackdoor\u201d pathway in patients with 21-hydroxylase deficiency: Evidence from urinary steroid hormone analysis","volume":"97","author":"Kamrath","year":"2012","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0225","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1093\/hmg\/4.4.745","article-title":"A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency","volume":"4","author":"Katsumata","year":"1995","journal-title":"Human Molecular Genetics"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0230","first-page":"2104","article-title":"Medroxyprogesterone acetate and dexamethasone are competitive inhibitors of different human steroidogenic enzymes","volume":"84","author":"Lee","year":"1999","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"5205","key":"10.1016\/bs.vh.2018.05.002_bb0235","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1126\/science.7892608","article-title":"Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis","volume":"267","author":"Lin","year":"1995","journal-title":"Science (New York, N.Y.)"},{"issue":"12","key":"10.1016\/bs.vh.2018.05.002_bb9015","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1210\/mend-4-12-1850","article-title":"Structural analysis of the gene encoding human 3 beta-hydroxysteroid dehydrogenase\/delta 5----4-isomerase","volume":"4","author":"Lorence","year":"1990","journal-title":"Molecular Endocrinology"},{"issue":"8","key":"10.1016\/bs.vh.2018.05.002_bb0240","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1590\/S0004-27302010000800018","article-title":"Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia","volume":"54","author":"Lusa","year":"2010","journal-title":"Arquivos Brasileiros de Endocrinologia e Metabologia"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0245","first-page":"2611","article-title":"Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency","volume":"87","author":"Lutfallah","year":"2002","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"8","key":"10.1016\/bs.vh.2018.05.002_bb0250","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1210\/mend-3-8-1310","article-title":"Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase","volume":"3","author":"Luu","year":"1989","journal-title":"Molecular Endocrinology (Baltimore, Md.)"},{"key":"10.1016\/bs.vh.2018.05.002_bb0255","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.mce.2016.07.029","article-title":"Genes and proteins of the alternative steroid backdoor pathway for dihydrotestosterone synthesis are expressed in the human ovary and seem enhanced in the polycystic ovary syndrome","volume":"441","author":"Marti","year":"2017","journal-title":"Molecular and Cellular Endocrinology"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0260","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1046\/j.1365-2265.2000.00873.x","article-title":"Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls","volume":"52","author":"Marui","year":"2000","journal-title":"Clinical Endocrinology"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0265","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/(SICI)1098-1004(1998)12:2<139::AID-HUMU19>3.0.CO;2-4","article-title":"A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. Online","volume":"12","author":"Marui","year":"1998","journal-title":"Human Mutation"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0270","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1677\/jme.0.0240075","article-title":"Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II","volume":"24","author":"McCartin","year":"2000","journal-title":"Journal of Molecular Endocrinology"},{"issue":"7","key":"10.1016\/bs.vh.2018.05.002_bb0275","first-page":"2127","article-title":"Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene","volume":"80","author":"M\u00e9barki","year":"1995","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0280","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/0022-4731(87)90396-7","article-title":"Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: Gender role change and absence of gynecomastia at puberty","volume":"28","author":"Mendonca","year":"1987","journal-title":"Journal of Steroid Biochemistry"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0285","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1677\/jme.0.0120119","article-title":"Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females","volume":"12","author":"Mendon\u00e7a","year":"1994","journal-title":"Journal of Molecular Endocrinology"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0290","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1210\/jc.2004-1552","article-title":"Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping","volume":"90","author":"Mermejo","year":"2005","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0295","doi-asserted-by":"crossref","first-page":"2544","DOI":"10.1210\/en.2005-0096","article-title":"Minireview: Regulation of steroidogenesis by electron transfer","volume":"146","author":"Miller","year":"2005","journal-title":"Endocrinology"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0300","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1210\/er.2010-0013","article-title":"The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders","volume":"32","author":"Miller","year":"2011","journal-title":"Endocrine Reviews"},{"issue":"12","key":"10.1016\/bs.vh.2018.05.002_bb0305","first-page":"4410","article-title":"New insight into the molecular basis of 3\u03b2-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 enzymes","volume":"84","author":"Moisan","year":"1999","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0310","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3109\/07435800.2014.895377","article-title":"3\u03b2HSD and CYB5A double positive adrenocortical cells during adrenal development\/aging","volume":"40","author":"Nakamura","year":"2015","journal-title":"Endocrine Research"},{"issue":"1 spec. issue","key":"10.1016\/bs.vh.2018.05.002_bb0315","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/s11154-008-9092-2","article-title":"Adrenal changes associated with adrenarche","volume":"10","author":"Nakamura","year":"2009","journal-title":"Reviews in Endocrine & Metabolic Disorders"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0320","doi-asserted-by":"crossref","first-page":"2192","DOI":"10.1210\/jc.2008-2374","article-title":"Type 5 17\u03b2-hydroxysteroid dehydrogenase (AKR1C3) contributes to testosterone production in the adrenal reticularis","volume":"94","author":"Nakamura","year":"2009","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"3\u20135","key":"10.1016\/bs.vh.2018.05.002_bb0325","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jsbmb.2010.12.001","article-title":"Human adrenal cells that express both 3\u03b2-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production","volume":"123","author":"Nakamura","year":"2011","journal-title":"The Journal of Steroid Biochemistry and Molecular Biology"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0330","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1006\/mgme.1998.2715","article-title":"Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents","volume":"64","author":"Nayak","year":"1998","journal-title":"Molecular Genetics and Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0335","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1159\/000102593","article-title":"A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: Difficulties and delay in etiologic diagnosis","volume":"68","author":"Nordenstr\u00f6m","year":"2007","journal-title":"Hormone Research"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0340","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1210\/jc.2016-3285","article-title":"11-Oxygenated C19 steroids are the predominant androgens in polycystic ovary syndrome","volume":"102","author":"O\u2019Reilly","year":"2017","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0345","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0889-8529(08)70020-3","article-title":"Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency","volume":"30","author":"Pang","year":"2001","journal-title":"Endocrinology and Metabolism Clinics of North America"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0350","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1210\/jcem-60-3-428","article-title":"Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women","volume":"60","author":"Pang","year":"1985","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0355","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1210\/jcem-56-4-808","article-title":"Nonsalt-losing congenital adrenal hyperplasia due to 3\u03b2-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function","volume":"56","author":"Pang","year":"1983","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0360","first-page":"2556","article-title":"A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3\u03b2-hydroxysteroid dehydrogenase (3\u03b2-HSD) gene causing, respectively, nonclassic and classic 3\u03b2-HSD deficiency congenital adrenal hyperplasia","volume":"87","author":"Pang","year":"2002","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0365","doi-asserted-by":"crossref","first-page":"70","DOI":"10.4274\/jcrpe.3680","article-title":"Uniparental isodisomy of chromosome 1 unmasking an autosomal recessive 3-beta hydroxysteroid dehydrogenase type II-related congenital adrenal hyperplasia","volume":"9","author":"Panzer","year":"2017","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"10.1016\/bs.vh.2018.05.002_bb9010","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1210\/rp.57.1.19","article-title":"Steroidogenic factor 1: An essential mediator of endocrine development","volume":"57","author":"Parker","year":"2002","journal-title":"Recent Progress in Hormone Research"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0370","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1210\/jcem-33-2-269","article-title":"Pubertal boy with the 3\u03b2-hydroxy steroid dehydrogenase defect","volume":"33","author":"Parks","year":"1971","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0375","first-page":"1149","article-title":"Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: A hormonal and metabolic evaluation","volume":"27","author":"Paula","year":"1994","journal-title":"Brazilian Journal of Medical and Biological Research = Revista Brasileira de Pesquisas M\u00e9dicas e Biol\u00f3gicas"},{"issue":"7","key":"10.1016\/bs.vh.2018.05.002_bb0380","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0159867","article-title":"11-Ketotestosterone and 11-ketodihydrotestosterone in castration resistant prostate cancer: Potent androgens which can no longer be ignored","volume":"11","author":"Pretorius","year":"2016","journal-title":"PLoS One"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0385","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1159\/000448724","article-title":"Non-virilizing congenital adrenal hyperplasia in a female patient with a novel HSD3B2 mutation","volume":"10","author":"Probst-Scheidegger","year":"2016","journal-title":"Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0390","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.gene.2012.04.080","article-title":"In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations","volume":"503","author":"Rabbani","year":"2012","journal-title":"Gene"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0395","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1210\/jc.2012-2912","article-title":"Liquid chromatography\u2013tandem mass spectrometry analysis of human adrenal vein 19-carbon steroids before and after ACTH stimulation","volume":"98","author":"Rege","year":"2013","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0400","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1210\/jc.2004-1571","article-title":"Urinary markers of adrenarche: Reference values in healthy subjects, aged 3-18 years","volume":"90","author":"Remer","year":"2005","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"8","key":"10.1016\/bs.vh.2018.05.002_bb0405","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1210\/mend-5-8-1147","article-title":"Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase\/delta 5-delta 4-isomerase in human adrenals and gonads","volume":"5","author":"Rh\u00e9aume","year":"1991","journal-title":"Molecular Endocrinology (Baltimore, Md.)"},{"issue":"9","key":"10.1016\/bs.vh.2018.05.002_bb0410","doi-asserted-by":"crossref","first-page":"2893","DOI":"10.1021\/bi00009a020","article-title":"Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: Alteration of the putative NAD-binding domain of type II 3 beta-HSD","volume":"34","author":"Rh\u00e9aume","year":"1995","journal-title":"Biochemistry"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0415","first-page":"1012","article-title":"Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency","volume":"79","author":"Rh\u00e9aume","year":"1994","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0420","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1038\/ng0792-239","article-title":"Congenital adrenal hyperplasia due to point mutations in the type II 3\u03b2-hydroxysteroid dehydrogenase gene","volume":"1","author":"Rh\u00e9aume","year":"1992","journal-title":"Nature Genetics"},{"issue":"7","key":"10.1016\/bs.vh.2018.05.002_bb0425","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.bbalip.2009.03.001","article-title":"Cholesterol transport in steroid biosynthesis: Role of protein\u2013protein interactions and implications in disease states","volume":"1791","author":"Rone","year":"2009","journal-title":"Biochimica et Biophysica Acta (BBA)\u2014Molecular and Cell Biology of Lipids"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0430","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1210\/jcem-51-2-345","article-title":"Pubertal presentation of congenital delta 5-3 beta-hydroxysteroid dehydrogenase deficiency","volume":"51","author":"Rosenfield","year":"1980","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0435","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1677\/jme.0.0120225","article-title":"Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss","volume":"12","author":"Russell","year":"1994","journal-title":"Journal of Molecular Endocrinology"},{"issue":"9","key":"10.1016\/bs.vh.2018.05.002_bb0440","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1093\/hmg\/3.9.1639","article-title":"Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia","volume":"3","author":"Sanchez","year":"1994","journal-title":"Human Molecular Genetics"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0445","first-page":"561","article-title":"Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency","volume":"78","author":"Sanchez","year":"1994","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"3 Pt. 2","key":"10.1016\/bs.vh.2018.05.002_bb0450","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1097\/00005392-200009020-00031","article-title":"Uroplakin and androgen receptor expression in the human fetal genital tract: Insights into the development of the vagina","volume":"164","author":"Shapiro","year":"2000","journal-title":"The Journal of Urology"},{"issue":"3","key":"10.1016\/bs.vh.2018.05.002_bb0455","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1055\/s-2002-35373","article-title":"Congenital adrenal hyperplasia due to 3\u03b2-hydroxysteroid dehydrogenase\/\u03945-\u03944 isomerase deficiency","volume":"20","author":"Simard","year":"2002","journal-title":"Seminars in Reproductive Medicine"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0460","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/hmg\/3.2.327","article-title":"Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 delta AA in type II 3 beta-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan\/Pakistani origin","volume":"3","author":"Simard","year":"1994","journal-title":"Human Molecular Genetics"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0465","first-page":"716","article-title":"Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency","volume":"7","author":"Simard","year":"1993","journal-title":"Molecular Endocrinology"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0470","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1210\/er.2002-0050","article-title":"Molecular biology of the 3\u03b2-hydroxysteroid dehydrogenase\/\u03945-\u03944 isomerase gene family","volume":"26","author":"Simard","year":"2005","journal-title":"Endocrine Reviews"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0475","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.ogc.2004.08.005","article-title":"Fetal hormones and sexual differentiation","volume":"31","author":"Sobel","year":"2004","journal-title":"Obstetrics and Gynecology Clinics of North America"},{"issue":"1\u20132","key":"10.1016\/bs.vh.2018.05.002_bb0480","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.mce.2013.07.006","article-title":"11\u03b2-Hydroxydihydrotestosterone and 11-ketodihydrotestosterone, novel C19 steroids with androgenic activity: A putative role in castration resistant prostate cancer?","volume":"377","author":"Storbeck","year":"2013","journal-title":"Molecular and Cellular Endocrinology"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0485","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1046\/j.1365-2265.2000.01144.x","article-title":"Developmental changes in steroidogenic enzymes in human postnatal adrenal cortex: Immunohistochemical studies","volume":"53","author":"Suzuki","year":"2000","journal-title":"Clinical Endocrinology"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0490","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1093\/hmg\/4.5.969","article-title":"Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency","volume":"4","author":"Tajima","year":"1995","journal-title":"Human Molecular Genetics"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0495","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1111\/cen.12394","article-title":"Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for \u03945-steroids","volume":"80","author":"Takasawa","year":"2014","journal-title":"Clinical Endocrinology"},{"issue":"22","key":"10.1016\/bs.vh.2018.05.002_bb0500","doi-asserted-by":"crossref","first-page":"21321","DOI":"10.1074\/jbc.M501269200","article-title":"Identification of key amino acids responsible for the substantially higher affinities of human type 1 3beta-hydroxysteroid dehydrogenase\/isomerase (3beta-HSD1) for substrates, coenzymes, and inhibitors relative to human 3beta-HSD2","volume":"280","author":"Thomas","year":"2005","journal-title":"The Journal of Biological Chemistry"},{"issue":"36","key":"10.1016\/bs.vh.2018.05.002_bb0505","doi-asserted-by":"crossref","first-page":"21003","DOI":"10.1074\/jbc.270.36.21003","article-title":"An NADH-induced conformational change that mediates the sequential 3 beta-hydroxysteroid dehydrogenase\/isomerase activities is supported by affinity labeling and the time-dependent activation of isomerase","volume":"270","author":"Thomas","year":"1995","journal-title":"The Journal of Biological Chemistry"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb9020","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1677\/jme.0.0270077","article-title":"The engineered, cytosolic form of human type I 3beta-hydroxysteroid dehydrogenase\/isomerase: Purification, characterization and crystallization","volume":"27","author":"Thomas","year":"2001","journal-title":"Journal of Molecular Endocrinology"},{"issue":"5","key":"10.1016\/bs.vh.2018.05.002_bb0510","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1530\/EJE-15-1181","article-title":"Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency","volume":"174","author":"Turcu","year":"2016","journal-title":"European Journal of Endocrinology"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0515","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1002\/cphy.c140006","article-title":"Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions","volume":"4","author":"Turcu","year":"2014","journal-title":"Comprehensive Physiology"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0520","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1210\/jcem-63-1-202","article-title":"Hormonal regulation of P450scc (20,22-desmolase) and P450cl7 (17\u03b1-hydroxylase\/17,20-lyase) in cultured human granulosa cells","volume":"63","author":"Voutilainen","year":"1986","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0525","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1210\/jc.2007-1874","article-title":"Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia","volume":"93","author":"Welzel","year":"2008","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0530","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1152\/physrev.00009.2006","article-title":"Sex determination and gonadal development in mammals","volume":"87","author":"Wilhelm","year":"2007","journal-title":"Physiological Reviews"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0535","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.ecl.2015.02.001","article-title":"Development of adrenal cortex zonation","volume":"44","author":"Xing","year":"2015","journal-title":"Endocrinology and Metabolism Clinics of North America"},{"issue":"2","key":"10.1016\/bs.vh.2018.05.002_bb0540","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1159\/000185492","article-title":"Pubertal changes in testicular 3 beta-hydroxysteroid dehydrogenase activity in a male with classical 3 beta-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation","volume":"48","author":"Yoshimoto","year":"1997","journal-title":"Hormone Research"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0545","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1159\/000179067","article-title":"3 beta-Hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age","volume":"11","author":"Zachmann","year":"1979","journal-title":"Hormone Research"},{"issue":"6","key":"10.1016\/bs.vh.2018.05.002_bb0550","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1210\/jcem-30-6-719","article-title":"Unusual type of congenital adrenal hyperplasia probably due to deficiency of 3-beta-hydroxysteroid dehydrogenase. Case report of a surviving girl and steroid studies","volume":"30","author":"Zachmann","year":"1970","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0555","first-page":"1678","article-title":"Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder","volume":"85","author":"Zhang","year":"2000","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"1","key":"10.1016\/bs.vh.2018.05.002_bb0560","first-page":"291","article-title":"A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia","volume":"81","author":"Zhang","year":"1996","journal-title":"The Journal of Clinical Endocrinology & Metabolism"},{"issue":"11","key":"10.1016\/bs.vh.2018.05.002_bb0565","doi-asserted-by":"crossref","first-page":"2086","DOI":"10.1172\/JCI104666","article-title":"The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase","volume":"41","author":"Bongiovanni","year":"1962","journal-title":"The Journal of Clinical Investigation"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0570","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1172\/JCI107977","article-title":"Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia","volume":"55","author":"Schneider","year":"1975","journal-title":"The Journal of Clinical Investigation"},{"issue":"4","key":"10.1016\/bs.vh.2018.05.002_bb0575","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1203\/00006450-198810000-00181","article-title":"160 age-related differences in the excretion of delta 5 steroids (D5S) in two related girls with 3b-hydroxy steroid dehydrogenase deficiency (3b0HD)","volume":"24","author":"Zachmann","year":"1988","journal-title":"Pediatric Research"}],"container-title":["Vitamins and Hormones","Dehydroepiandrosterone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0083672918300530?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0083672918300530?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T20:19:05Z","timestamp":1661545145000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0083672918300530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9780128143612"],"references-count":119,"URL":"https:\/\/doi.org\/10.1016\/bs.vh.2018.05.002","relation":{},"ISSN":["0083-6729"],"issn-type":[{"value":"0083-6729","type":"print"}],"subject":[],"published":{"date-parts":[[2018]]}}}