{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:26Z","timestamp":1784557046582,"version":"3.55.0"},"reference-count":20,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,11,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Combined17\u03b1-hydroxylase\/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with a retroperitoneal malignant mixed germ cell tumour. She was hypertensive and hypogonadal. One sibling presented with headache due to hypertension while the other two siblings were diagnosed with hypertension on a routine school check. A homozygous R96Q missense mutation in P450c17 was detected in the index case who had primary amenorrhea and lack of secondary sexual characters at 17 years. The middle two siblings were identical twins and had no secondary sexual characters at the age of 14. All siblings had hypokalemia, very low level of adrenal androgens, high ACTH and high levels of aldosterone substrates. Treatment was commenced with steroid replacement and puberty induction with estradiol. The index case had surgical tumor resection and chemotherapy. All siblings required antihypertensive treatment and the oldest remained on two antihypertensive medications 12 years after diagnosis. Her breast development remained poor despite adequate hormonal replacement. Combined 17\u03b1-hydroxylase\/17,20-lyase deficiency is a rare condition but might be underdiagnosed. It should be considered in young patients presenting with hypertension, particularly if there is a family history of consanguinity and with more than one affected sibling. Antihypertensive medication might continue to be required despite adequate steroid replacement. Breast development may remain poor in mutations causing complete form of the disease.<\/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>Endocrine hypertension due to rarer forms of CAH should be considered in children and adolescents, particularly if more than one sibling is affected and in the presence of consanguinity.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>17\u03b1-hydroxylase\/17,20-lyase deficiency is a rare form of CAH but might be underdiagnosed.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Blood pressure measurement should be carried out in all females presenting with hypogonadism.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Anti-hypertensive medications might be required despite adequate steroid replacement.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Initial presenting features might vary within affected members of the same family.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Adverse breast development might be seen in the complete enzyme deficiency forms of the disease.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/edm-15-0069","type":"journal-article","created":{"date-parts":[[2015,11,5]],"date-time":"2015-11-05T04:21:27Z","timestamp":1446697287000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":5,"title":["17-hydroxylase\/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development"],"prefix":"10.1530","volume":"2015","author":[{"given":"Asma","family":"Deeb","sequence":"first","affiliation":[{"name":"Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Al Suwaidi","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salima","family":"Attia","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlam","family":"Al Ameri","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Department, Mafraq Hospital, Abu Dhabi, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref41","first-page":"2428","article-title":"A novel point mutation in P450c17 (CYP17) causing combined 17\u03b1-hydroxylase\/17, 20-lyase deficiency","volume":"6","year":"2006","journal-title":"Journal of Endocrinology and Metabolism"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1172\/JCI105499","article-title":"17 hydroxylation in man","volume":"45","year":"1966","journal-title":"Journal of Clinical Investigation"},{"key":"ref181","first-page":"55","article-title":"Congenital Adrenal Hyperplasia due to 17-\u03b1-hydoxylase\/17, 20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman","volume":"1","year":"2014","journal-title":"Oman Medical Journal"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1210\/edrv-12-1-91","article-title":"17\u03b1-hydroxylase\/17, 20-lyase deficiency: from clinical investigation to molecular definition","volume":"12","year":"1991","journal-title":"Endocrinology Reviews"},{"key":"ref191","first-page":"212","article-title":"Rare missense P450c17 (CYP17A1) mutation in exon 1 as a cause of 46 XY disorder of sexual development: implications of breast tissue \u2019unresponsiveness\u2019 despite adequate estradiol substitution","volume":"4","year":"2013","journal-title":"Sexual Development"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1210\/jc.2003-031021","article-title":"Brazilian congenital adrenal hyperplasia multicenter study group. 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Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylasedeficiency","volume":"89","year":"2004","journal-title":"Journal of Endocrinology and Metabolism"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1210\/mend-2-6-564","article-title":"Structural characterization of normal and mutant human steroid 17\u03b1 hydroxylase gene: molecular basis of one example of combined 17 \u03b1 hydroxylase\/17, 20- lyase deficiency","volume":"2","year":"1988","journal-title":"Molecular Endocrinolgy"},{"key":"ref91","first-page":"212","article-title":"Rare missense P450c17 (CYP17A1) mutation in exon 1 as a cause of 46 XY disorder of sexual development: implications of breast tissue \u2019unresponsiveness\u2019 despite adequate estradiol substitution","volume":"4","year":"2013","journal-title":"Sexual Development"},{"key":"ref141","first-page":"2428","article-title":"A novel point mutation in P450c17 (CYP17) causing combined 17\u03b1-hydroxylase\/17, 20-lyase deficiency","volume":"6","year":"2006","journal-title":"Journal of Endocrinology and Metabolism"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1172\/JCI105499","article-title":"17 hydroxylation in man","volume":"45","year":"1966","journal-title":"Journal of Clinical Investigation"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2015\/1\/EDM15-0069.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2015\/1\/EDM15-0069.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:09Z","timestamp":1784555169000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,1]]},"references-count":20,"URL":"https:\/\/doi.org\/10.1530\/edm-15-0069","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,1]]}}}