{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T01:58:06Z","timestamp":1749088686658},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"09","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Metab Res"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. The study refers to CAH patients of Greek-Cypriot ancestry between years 2007 and 2018. One hundred and twenty patients with various degrees of CAH were categorized and genotyped. The patients were categorized in 4 mutation groups based on their clinical and biochemical findings. The majority of patients (85.0%) belonged to the non-classic (NC)-CAH form and the disorder was more often diagnosed in females (71.7%). The most severe classic salt-wasting (SW) form was identified in 11 neonates (9.2%). Seven (5.8%) children were also identified with the simple virilizing (SV) form and a median presentation age of 5 years [interquartile range (IQR) 3.2\u20136.5]. In the 240 nonrelated alleles, the most frequent mutation was p.Val281Leu (60.0%) followed by c.655\u2009A\/C&gt;G (IVS2\u201313A\/C&gt;G) (8.8%), p.Pro453Ser (5.8%), DelEx1\u20133 (4.6%), p.Val304Met (4.6%), and p.Gln318stop (4.2%). Other less frequent mutations including rare deletions were also identified. Following our recent report that the true carrier frequency of CYP21A2 in Greek-Cypriots is 1:10, this study reports that the CAH prevalence is predicted around 1.7 cases per 10 000 people. Therefore, the up-to-date 120 CAH patients identified by our group make only the 6.9% of the ones estimated (approximately 1750) to exist in the Greek Cypriot population. The compiled data from a coherent population such as the Greek-Cypriot could be valuable for the antenatal diagnosis, management and genetic counselling of the existing and prospect families with CAH.<\/jats:p>","DOI":"10.1055\/a-0957-3297","type":"journal-article","created":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T22:52:31Z","timestamp":1568155951000},"page":"586-594","source":"Crossref","is-referenced-by-count":9,"title":["The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis"],"prefix":"10.1055","volume":"51","author":[{"given":"Vassos","family":"Neocleous","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus"},{"name":"Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavlos","family":"Fanis","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus"},{"name":"Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meropi","family":"Toumba","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus"},{"name":"Pediatric Endocrine Clinic, IASIS Hospital, Paphos, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charilaos","family":"Stylianou","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Makarios III Hospital, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michalis","family":"Picolos","sequence":"additional","affiliation":[{"name":"Alithias Endocrinology Center, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Andreou","sequence":"additional","affiliation":[{"name":"Dasoupolis Endocrinology Center, Andrea Dimitriou Street Dasoupolis, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Kyriakou","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michalis","family":"Iasonides","sequence":"additional","affiliation":[{"name":"Iliaktida Peadiatric & Adolescent Medical Centre, Limassol, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stella","family":"Nicolaou","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Makarios III Hospital, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tassos C.","family":"Kyriakides","sequence":"additional","affiliation":[{"name":"Yale Center for Analytical Sciences, Yale School of Public Health, New Haven, CT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George A.","family":"Tanteles","sequence":"additional","affiliation":[{"name":"Cyprus School of Molecular Medicine, Nicosia, Cyprus"},{"name":"Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicos","family":"Skordis","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus"},{"name":"Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus"},{"name":"St George\u2019s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonidas A.","family":"Phylactou","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus"},{"name":"Cyprus School of Molecular Medicine, Nicosia, Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2019,9,10]]},"container-title":["Hormone and Metabolic Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-0957-3297.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,10]],"date-time":"2019-09-10T22:52:34Z","timestamp":1568155954000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-0957-3297"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":0,"journal-issue":{"issue":"09","published-online":{"date-parts":[[2019,9,10]]},"published-print":{"date-parts":[[2019,9]]}},"URL":"https:\/\/doi.org\/10.1055\/a-0957-3297","relation":{},"ISSN":["0018-5043","1439-4286"],"issn-type":[{"value":"0018-5043","type":"print"},{"value":"1439-4286","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,9]]}}}