{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T15:05:10Z","timestamp":1778684710154,"version":"3.51.4"},"reference-count":35,"publisher":"Korean Society of Pediatric Endocrinology","issue":"1","license":[{"start":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T00:00:00Z","timestamp":1709164800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["NRF2021R1F1A104593011"],"award-info":[{"award-number":["NRF2021R1F1A104593011"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014188","name":"Ministry of Science and ICT","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100014188","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["e-apem.org"],"crossmark-restriction":true},"short-container-title":["Ann Pediatr Endocrinol Metab"],"published-print":{"date-parts":[[2024,2,29]]},"abstract":"<jats:p>Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk.Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD. Fetal tissues were obtained using chorionic villus sampling (CVS) or amniocentesis. After the genomic DNA was isolated, Sanger sequencing of &lt;i&gt;CYP21A2&lt;\/i&gt; and multiplex ligation-dependent probe amplification were performed. The clinical and endocrinological findings were reviewed retrospectively.Results: A total of 39 prenatal genetic tests was performed on 27 pregnant women and their fetal tissues. The mean gestational age at the time of testing was 11.7 weeks for CVS and 17.5 weeks for amniocentesis. Eleven fetuses (28.2%) were diagnosed with 21-OHD. Among them, 10 fetuses (90.9%) harbored the same mutation as siblings who were previously diagnosed with 21-OHD. Among these, 4 fetuses (3 males and 1 female) identified as affected were born alive. All 4 patients have been treated with hydrocortisone, 9\u03b1-fludrocortisone, and sodium chloride since a mean of 3.7 days of life. The male patients did not show hyponatremia and dehydration, although they harbored pathogenic variants associated with the salt-wasting type of 21-OHD.Conclusion: This study demonstrated the diagnostic efficacy and clinical consequences of diagnosis by prenatal genetic testing in families at risk for 21-OHD. All patients identified as affected were treated with hydrocortisone and 9\u03b1-fludrocortisone early after birth, which can prevent a life-threatening adrenal crisis.<\/jats:p>","DOI":"10.6065\/apem.2346014.007","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T23:54:26Z","timestamp":1708991666000},"page":"54-59","update-policy":"https:\/\/doi.org\/10.6065\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene"],"prefix":"10.6065","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8541-3116","authenticated-orcid":true,"given":"Ji-Hee","family":"Yoon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1779-237X","authenticated-orcid":true,"given":"Soojin","family":"Hwang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2477-5199","authenticated-orcid":true,"given":"Ja Hye","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7056-7446","authenticated-orcid":true,"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8615-186X","authenticated-orcid":true,"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1196-7826","authenticated-orcid":true,"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"4096","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmra021561"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/s0950-351x(95)80587-7"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.22.12790"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/0198-8859(86)90018-2"},{"key":"ref5","first-page":"17","volume-title":"Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene - implications for steroid 21-hydroxylase deficiency","author":"Higashi","year":"1988"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030408"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2009.01.008"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.785570"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.23.10796"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1172\/jci115897"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020611"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000049997"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1056\/nejmra1909786"},{"key":"ref14","first-page":"4043","volume-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline","author":"Speiser","year":"2018"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(65)90864-0"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-61-1-89"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-66-3-534"},{"key":"ref18","first-page":"130","volume-title":"Pitfalls in prenatal-diagnosis of 21-hydroxylase deficiency by amniotic-fluid steroid analysis - a 6 years experience in 102 pregnancies at risk","author":"Forest","year":"1985"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-017-0296-6"},{"key":"ref20","first-page":"5651","volume-title":"Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies","author":"New","year":"2001"},{"key":"ref21","first-page":"193","volume-title":"Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: experience from a tertiary care centre in India","author":"Dubey","year":"2017"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-06828-2"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1118"},{"key":"ref24","first-page":"1","volume-title":"Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. centers for disease control and prevention","year":"1995"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1287789"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0653-5"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.02.008"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.01.002"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(98)70060-5"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1530\/eje-16-0888"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2010.03826.x"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2007.05.046"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.05.002"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1340"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(05)66617-2"}],"container-title":["Annals of Pediatric Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-apem.org\/upload\/pdf\/apem-2346014-007.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-apem.org\/journal\/view.php?doi=10.6065\/apem.2346014.007","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-apem.org\/upload\/pdf\/apem-2346014-007.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:12:14Z","timestamp":1708992734000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-apem.org\/journal\/view.php?doi=10.6065\/apem.2346014.007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,29]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,2]]}},"URL":"https:\/\/doi.org\/10.6065\/apem.2346014.007","relation":{},"ISSN":["2287-1012","2287-1292"],"issn-type":[{"value":"2287-1012","type":"print"},{"value":"2287-1292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,29]]},"assertion":[{"value":"2023-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-29","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-29","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}