{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:24Z","timestamp":1784557044738,"version":"3.55.0"},"reference-count":28,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,10,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    11\u03b2-hydroxylase deficiency (11\u03b2-OHD), an autosomal recessive inherited disorder, accounts for 5\u20138% of congenital adrenal hyperplasia. In Greece, no cases of 11\u03b2-OHD have been described so far. The patient presented at the age of 13 months with mild virilization of external genitalia and pubic hair development since the age of 3 months. Hormonal profile showed elevated 11-deoxycortisol, adrenal androgens and ACTH levels. ACTH stimulation test was compatible with 11\u03b2-OHD. DNA of the proband and her parents was isolated and genotyped for\n                    <jats:italic>CYP11B1<\/jats:italic>\n                    gene coding cytochrome P450c11. The girl was found to be compound heterozygous for two\n                    <jats:italic>CYP11B1<\/jats:italic>\n                    novel mutations, p.Ala386Glu (exon 7), inherited from the father and p.Leu471Argin (exon 9) from the mother. Hydrocortisone supplementation therapy was initiated. Four years after presentation she remains normotensive, her growth pattern is normal and the bone age remains advanced despite adequate suppression of adrenal androgens.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>11\u03b2-hydroxylase (CYP11B1) deficiency (11OHD; OMIM +202010) is the second most common cause of CAH accounting for approximately 5\u20138% of cases with an incidence of 1:100\u200a000\u20131:200\u200a000 live births in non-consanguineous populations.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Two CYP11B1 inactivating novel mutations, p.Ala386Glu and p.Leu471Arg are reported<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>\n                            Regarding newborn females,\n                            <jats:italic>in utero<\/jats:italic>\n                            androgen excess results in ambiguous genitalia, whereas in the male newborn diagnosis may go undetected. In infancy and childhood adrenal androgen overproduction results in peripheral precocious puberty in boys and various degrees of virilization in girls.\n                          <\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Diagnosis lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17\u03b1-hydroxyprogesterone and \u03944-androstenedione.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>The established treatment of steroid 11\u03b2-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/edm-15-0074","type":"journal-article","created":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T15:48:30Z","timestamp":1444751310000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["A Greek girl with 11\u03b2-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene"],"prefix":"10.1530","volume":"2015","author":[{"given":"Chrisanthi","family":"Marakaki","sequence":"first","affiliation":[{"name":"1 Third Department of Pediatrics Attikon University Hospital Rimini 1 Haidari, Athens, 12462Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"1 Third Department of Pediatrics Attikon University Hospital Rimini 1 Haidari, Athens, 12462Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Karapanou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitrios T","family":"Papadimitriou","sequence":"additional","affiliation":[{"name":"1 Third Department of Pediatrics Attikon University Hospital Rimini 1 Haidari, Athens, 12462Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kleanthis","family":"Kleanthous","sequence":"additional","affiliation":[{"name":"1 Third Department of Pediatrics Attikon University Hospital Rimini 1 Haidari, Athens, 12462Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasios","family":"Papadimitriou","sequence":"additional","affiliation":[{"name":"1 Third Department of Pediatrics Attikon University Hospital Rimini 1 Haidari, Athens, 12462Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref01","first-page":"421","article-title":"Disorders of steroid 11\u03b2-hydroxylase isozymes","volume":"15","year":"1994","journal-title":"Endocrine Reviews"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1172\/JCI115182","article-title":"A mutation in CYP11B1 (Arg-448\u2013His) associated with steroid 11\u03b2-hydroxylase deficiency in Jews of Moroccan origin","volume":"87","year":"1991","journal-title":"Journal of Clinical Investigation"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00442149","article-title":"Hypertension in a neonate with 11\u03b2-hydroxylase 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Metabolism"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1172\/JCI115182","article-title":"A mutation in CYP11B1 (Arg-448\u2013His) associated with steroid 11\u03b2-hydroxylase deficiency in Jews of Moroccan origin","volume":"87","year":"1991","journal-title":"Journal of Clinical Investigation"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.tem.2008.01.002","article-title":"Steroid 11\u03b2-hydroxylase deficiency congenital adrenal hyperplasia","volume":"19","year":"2008","journal-title":"Trends in Endocrinology and Metabolism"},{"key":"ref131","first-page":"3129","article-title":"Prenatal diagnosis and treatment of 11\u03b2-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia","volume":"84","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"4552","DOI":"10.1073\/pnas.90.10.4552","article-title":"Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7 and 8","volume":"90","year":"1993","journal-title":"PNAS"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1210\/jc.2013-1306","article-title":"A diagnosis not to be missed: nonclassic steroid 11\u03b2-hydroxylase deficiency presenting with premature adrenarche and hirsutism","volume":"98","year":"2013","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1159\/000065490","article-title":"Consensus statement on 21-hydroxylase deficiency from the European Society of Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society","volume":"58","year":"2002","journal-title":"Hormone Research"},{"key":"ref221","first-page":"2896","article-title":"CYP11B1 mutations causing congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency","volume":"81","year":"1996","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref231","first-page":"4445","article-title":"Unequal crossing-over between aldosterone synthase and 11\u03b2-hydroxylase genes causes congenital adrenal hyperplasia","volume":"86","year":"2001","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00442149","article-title":"Hypertension in a neonate with 11\u03b2-hydroxylase deficiency","volume":"143","year":"1985","journal-title":"European Journal of Pediatrics"},{"key":"ref191","first-page":"270","article-title":"Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11\u03b2-hydroxylase deficiency","volume":"83","year":"1998","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1159\/000023374","article-title":"Disorders of the aldosterone synthase and steroid 11\u03b2-hydroxylase deficiencies","volume":"51","year":"1999","journal-title":"Hormone Research"},{"key":"ref281","first-page":"3129","article-title":"Prenatal diagnosis and treatment of 11\u03b2-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia","volume":"84","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1159\/000023374","article-title":"Disorders of the aldosterone synthase and steroid 11\u03b2-hydroxylase deficiencies","volume":"51","year":"1999","journal-title":"Hormone Research"},{"key":"ref171","first-page":"185974","article-title":"Two novel CYP11B1 gene mutations in patients from two Croatian families with 11\u03b2-hydroxylase deficiency","volume":"2014","year":"2014","journal-title":"International Journal of Endocrinology"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1210\/jc.2009-0651","article-title":"Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11\u03b2-hydroxylase deficiency","volume":"95","year":"2010","journal-title":"Journal of Clinical Endocrinology and Metabolism"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2015\/1\/EDM15-0074.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2015\/1\/EDM15-0074.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:10Z","timestamp":1784555170000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,1]]},"references-count":28,"URL":"https:\/\/doi.org\/10.1530\/edm-15-0074","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,1]]}}}