{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:58:50Z","timestamp":1783490330628,"version":"3.55.0"},"reference-count":18,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,11,30]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>P450scc deficiency due to <jats:italic>CYP11A1<\/jats:italic> gene mutations is a rare cause of primary adrenal insufficiency (PAI) in children. We reported two young siblings with PAI presented with hyperpigmentation. They were referred to our clinic with a diagnosis of familial glucocorticoid deficiency (FGD), another rare cause of PAI. However, further hormonal evaluation revealed increased plasma renin activity, which was not congruent with the diagnosis of FGD. Genetic analysis showed the compound heterozygous mutations in exon 8 of the <jats:italic>CYP11A1<\/jats:italic> gene, including a missense mutation, R466W (c1396C&gt;T), and a nonsense mutation, R439X (c1315C&gt;T). A case responded well to hydrocortisone, while another case received prednisolone due to her unresponsiveness to hydrocortisone. To correctly diagnose P450scc deficiency, physicians should be alerted with the similarity between this disease and FGD because of their predominant glucocorticoid deficiency. Long-acting glucocorticoids may be used with caution to reach treatment goals.<\/jats:p>","DOI":"10.1136\/bcr-2022-250238","type":"journal-article","created":{"date-parts":[[2022,12,8]],"date-time":"2022-12-08T09:40:18Z","timestamp":1670492418000},"page":"e250238","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Two siblings with non-classic P450scc deficiency resulted from a novel mutation in <i>CYP11A1<\/i> gene misdiagnosed as familial glucocorticoid deficiency"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6676-7229","authenticated-orcid":false,"given":"Binh Thanh","family":"Le","sequence":"first","affiliation":[{"name":"Department of Nephro-endocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9300-0047","authenticated-orcid":false,"given":"Cuong Minh","family":"Duong","sequence":"additional","affiliation":[{"name":"School of Population Health, University of New South Wales Faculty of Medicine, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tien Quoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Nephro-endocrinology, City Children\u2019s Hospital, Ho Chi Minh City, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5639-0728","authenticated-orcid":false,"given":"Chau Minh","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pham Ngoc Thach University of Medicine, Ho Chi Minh, Viet Nam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,12,8]]},"reference":[{"key":"2025082709163949000_15.12.e250238.1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2018\/1739831","article-title":"Pediatric adrenal insufficiency: diagnosis, management, and new therapies","volume":"2018","author":"Bowden","year":"2018","journal-title":"Int J Pediatr"},{"key":"2025082709163949000_15.12.e250238.2","doi-asserted-by":"crossref","unstructured":"Claire Hughes R R , John C . 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Puberty and Its Disorders. In: Mehul T , CGDB D , eds. Brook\u2019s Clinical Pediatric Endocrinology. 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