{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T12:36:45Z","timestamp":1790685405536,"version":"4.1.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2007,9]]},"DOI":"10.1016\/j.beem.2007.06.001","type":"journal-article","created":{"date-parts":[[2007,9,17]],"date-time":"2007-09-17T08:21:45Z","timestamp":1190017305000},"page":"393-401","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"title":["Age-specific changes in sex steroid biosynthesis and sex development"],"prefix":"10.1016","volume":"21","author":[{"given":"Nils","family":"Krone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil A.","family":"Hanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Arlt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2007.06.001_bib1","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0925-4773(99)00307-X","article-title":"SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development","volume":"91","author":"Hanley","year":"2000","journal-title":"Mechanisms of Development"},{"key":"10.1016\/j.beem.2007.06.001_bib2","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1080\/ann.34.3.171.178","article-title":"Genes essential for early events in gonadal development","volume":"34","author":"Parker","year":"2002","journal-title":"Annals of Medicine"},{"key":"10.1016\/j.beem.2007.06.001_bib3","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"},{"key":"10.1016\/j.beem.2007.06.001_bib4","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1634\/stemcells.2005-0255","article-title":"Evaluating human embryonic germ cells: concord and conflict as pluripotent stem cells","volume":"24","author":"Turnpenny","year":"2006","journal-title":"Stem Cells"},{"key":"10.1016\/j.beem.2007.06.001_bib5","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.mce.2003.09.012","article-title":"AMH signaling: from receptor to target gene","volume":"211","author":"Visser","year":"2003","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib6","unstructured":"MIM *600957. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=600957."},{"key":"10.1016\/j.beem.2007.06.001_bib7","unstructured":"MIM *600956. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=600956."},{"key":"10.1016\/j.beem.2007.06.001_bib8","unstructured":"MIM #261550. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=261550."},{"key":"10.1016\/j.beem.2007.06.001_bib9","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1093\/humupd\/dmi014","article-title":"AMH and AMH receptor defects in persistent Mullerian duct syndrome","volume":"11","author":"Josso","year":"2005","journal-title":"Human Reproduction Update"},{"key":"10.1016\/j.beem.2007.06.001_bib10","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"},{"key":"10.1016\/j.beem.2007.06.001_bib11","unstructured":"MIM *607306. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?id=607306."},{"key":"10.1016\/j.beem.2007.06.001_bib12","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1126\/science.186.4170.1213","article-title":"Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism","volume":"186","author":"Imperato-McGinley","year":"1974","journal-title":"Science"},{"key":"10.1016\/j.beem.2007.06.001_bib13","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0303-7207(02)00368-4","article-title":"Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency","volume":"198","author":"Imperato-McGinley","year":"2002","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib14","doi-asserted-by":"crossref","first-page":"3498","DOI":"10.1016\/S0021-9258(19)41542-1","article-title":"Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, Type 2","volume":"250","author":"Wilson","year":"1975","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1016\/j.beem.2007.06.001_bib15","unstructured":"MIM +152790. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=152790."},{"key":"10.1016\/j.beem.2007.06.001_bib16","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1210\/edrv.21.5.0409","article-title":"Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function","volume":"21","author":"Themmen","year":"2000","journal-title":"Endocrine Reviews"},{"key":"10.1016\/j.beem.2007.06.001_bib17","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"},{"key":"10.1016\/j.beem.2007.06.001_bib18","unstructured":"MIM +184757. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=184757."},{"key":"10.1016\/j.beem.2007.06.001_bib19","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/9629","article-title":"A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans","volume":"22","author":"Achermann","year":"1999","journal-title":"Nature Genetics"},{"key":"10.1016\/j.beem.2007.06.001_bib20","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1210\/jc.2006-1672","article-title":"Heterozygous missense mutations in steroidogenic factor 1 (SF1\/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function","volume":"92","author":"Lin","year":"2007","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2007.06.001_bib21","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1210\/jcem-38-1-113","article-title":"Testosterone formation and metabolism during male sexual differentiation in the human embryo","volume":"38","author":"Siiteri","year":"1974","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"10.1016\/j.beem.2007.06.001_bib22","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"},{"key":"10.1016\/j.beem.2007.06.001_bib23","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"},{"key":"10.1016\/j.beem.2007.06.001_bib24","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1016\/S0022-5347(05)67247-3","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"},{"key":"10.1016\/j.beem.2007.06.001_bib25","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/adc.2006.098319","article-title":"Consensus statement on management of intersex disorders","volume":"91","author":"Hughes","year":"2006","journal-title":"Archives of Disease in Childhood"},{"key":"10.1016\/j.beem.2007.06.001_bib26","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1111\/j.1365-2265.2006.02740.x","article-title":"Congenital adrenal hyperplasia and P450 oxidoreductase deficiency","volume":"66","author":"Krone","year":"2007","journal-title":"Clinical Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib27","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1016\/S0140-6736(05)66736-0","article-title":"Congenital adrenal hyperplasia","volume":"365","author":"Merke","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2007.06.001_bib28","first-page":"245","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"21","author":"White","year":"2000","journal-title":"Endocrine Reviews"},{"key":"10.1016\/j.beem.2007.06.001_bib29","unstructured":"MIM +201910. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=201910."},{"key":"10.1016\/j.beem.2007.06.001_bib30","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S0022-3476(84)80310-8","article-title":"Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency","volume":"105","author":"David","year":"1984","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.beem.2007.06.001_bib31","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/ncpendmet0481","article-title":"Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency","volume":"3","author":"Nimkarn","year":"2007","journal-title":"Nature Clinical Practice. Endocrinology & Metabolism"},{"key":"10.1016\/j.beem.2007.06.001_bib32","unstructured":"MIM #202110. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=202110."},{"key":"10.1016\/j.beem.2007.06.001_bib33","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1210\/mend-2-6-564","article-title":"Structural characterization of normal and mutant human steroid 17alpha-hydroxylase genes: molecular basis of one example of combined 17alpha-hydroxylase\/17,20 lyase deficiency","volume":"2","author":"Kagimoto","year":"1988","journal-title":"Molecular Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib34","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/S0889-8529(08)70021-5","article-title":"The genetics, pathophysiology, and management of human deficiencies of P450c17","volume":"30","author":"Auchus","year":"2001","journal-title":"Endocrinology and Metabolism Clinics of North America"},{"key":"10.1016\/j.beem.2007.06.001_bib35","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1056\/NEJM198511073131903","article-title":"Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia","volume":"313","author":"Peterson","year":"1985","journal-title":"The New England Journal of Medicine"},{"key":"10.1016\/j.beem.2007.06.001_bib36","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1507\/endocrj.46.285","article-title":"A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase\/17,20-lyase deficiency, but without obvious CYP17 gene mutations","volume":"46","author":"Adachi","year":"1999","journal-title":"Endocrine Journal"},{"key":"10.1016\/j.beem.2007.06.001_bib37","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ajmg.10510","article-title":"Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia","volume":"110","author":"Kelley","year":"2002","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/j.beem.2007.06.001_bib38","doi-asserted-by":"crossref","first-page":"2128","DOI":"10.1016\/S0140-6736(04)16503-3","article-title":"Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study","volume":"363","author":"Arlt","year":"2004","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2007.06.001_bib39","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng1300","article-title":"Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome","volume":"36","author":"Fluck","year":"2004","journal-title":"Nature Genetics"},{"key":"10.1016\/j.beem.2007.06.001_bib40","unstructured":"MIM #201750. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=201750."},{"key":"10.1016\/j.beem.2007.06.001_bib41","doi-asserted-by":"crossref","DOI":"10.1210\/me.2007-0066","article-title":"Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P","author":"Dhir","year":"2007","journal-title":"Molecular Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib42","unstructured":"MIM #207410. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=207410."},{"key":"10.1016\/j.beem.2007.06.001_bib43","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures","volume":"11","author":"Antley","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"10.1016\/j.beem.2007.06.001_bib44","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1210\/en.2002-220721","article-title":"5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate","volume":"144","author":"Wilson","year":"2003","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib45","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.mce.2004.04.009","article-title":"Steroid 5alpha-reductase 1 promotes 5alpha-androstane-3alpha,17beta-diol synthesis in immature mouse testes by two pathways","volume":"222","author":"Mahendroo","year":"2004","journal-title":"Molecular and Cellular Endocrinology"},{"key":"10.1016\/j.beem.2007.06.001_bib46","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"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X0700053X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X0700053X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:38:16Z","timestamp":1761496696000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X0700053X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9]]},"references-count":46,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S1521690X0700053X"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2007.06.001","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2007,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Age-specific changes in sex steroid biosynthesis and sex development","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2007.06.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}