{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T06:09:37Z","timestamp":1757311777829},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T00:00:00Z","timestamp":1196726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Congenital lipoid adrenal hyperplasia is an autosomal recessive condition due to mutations in <jats:italic>Steroidogenic Acute Regulatory Protein<\/jats:italic> (<jats:italic>StAR<\/jats:italic>) associated with the inability to synthesize all adrenal and gonadal steroids, resulting in adrenal insufficiency and failure to develop male genitalia in affected 46,XY individuals. We used two independent methods of prenatal diagnosis for CLAH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>CLAH was diagnosed prenatally by measuring amniotic fluid estriol, adrenal, and gonadal hormone levels, and by mutation analysis for the c.201\u2013202 delCT mutation in <jats:italic>StAR<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Prenatal testing diagnosed one affected and three unaffected fetuses in two families at risk for CLAH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prenatal testing for CLAH is effective, and targeted molecular genetic analysis should be considered in Palestinian families with a fetus with discordant 46,XY karyotype and female genitalia on ultrasound, and low maternal serum estriol. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1906","type":"journal-article","created":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T12:18:36Z","timestamp":1196770716000},"page":"11-14","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing"],"prefix":"10.1002","volume":"28","author":[{"given":"Amy","family":"Jean","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahesh","family":"Mansukhani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon E.","family":"Oberfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilene","family":"Fennoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon","family":"Nakamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Atwan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Israela","family":"Lerer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziva Ben","family":"Neriah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.","family":"Zangen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/9629"},{"issue":"10","key":"e_1_2_1_3_1","first-page":"400","article-title":"A founder c.201_202delCT mutation is responsible for most cases of Congenital Lipoid Adrenal Hyperplasia (CLAH) in Palestinians\u2013New phenotypic features","volume":"92","author":"Atwan M","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0434"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612193352503"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1985.tb01107.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1059"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.270.19.2307"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.1.200"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1906","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1906","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T23:29:49Z","timestamp":1700004589000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,4]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1002\/pd.1906"],"URL":"https:\/\/doi.org\/10.1002\/pd.1906","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,4]]}}}