{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T09:35:35Z","timestamp":1778751335941,"version":"3.51.4"},"reference-count":10,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition associated with enzymatic deficiencies affecting the adrenal steroid synthesis pathway. 21-hydroxylase deficiency (21-OHD), the most common form, is a pathogenic variant of the CYP21A2 gene and accounts for &amp;gt;95% of cases. Deficiency of 3\u03b2-hydroxysteroid dehydrogenase type 2 (3\u03b2-HSD2) is a rare form, accounting for &amp;lt;0.5% of cases. Detection of 3\u03b2-HSD deficiency depends on the methods used by laboratories for screening of CAH. We present the case of a 46-year-old female who was diagnosed with 21-OHD CAH at birth. As an adult, she was reviewed in a routine endocrine clinic and showed signs of hyperandrogenism, including hirsutism and male pattern hair loss. She was on prednisolone 3\u2005mg\/day and fludrocortisone 200\u2005mcg\/day. Trials of multiple antiandrogenic therapies did not help with hirsutism. 17-hydroxyprogesterone concentration was unexpectedly low, despite the low-dose glucocorticoid treatment. This raised our suspicion of an alternative etiology. Further investigations were undertaken, including a 24-hour urinary steroid profile and genetic testing, which led to the diagnosis of 3\u03b2-HSD2 deficiency. This case highlights that clinical suspicion of rarer forms of CAH is necessary to identify these cases, as they can lead to delayed diagnosis and treatment and inadequate glucocorticoid replacement.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf212","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:01:24Z","timestamp":1760029284000},"source":"Crossref","is-referenced-by-count":1,"title":["Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3\u03b2-Hydroxysteroid Dehydrogenase Type 2 Deficiency"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3379-9978","authenticated-orcid":false,"given":"Saira","family":"Yousaf","sequence":"first","affiliation":[{"name":"Department of Diabetes and Endocrinology, Great Western Hospital NHS Foundation Trust , Swindon SN3 6BB ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryizan","family":"Nizar","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Great Western Hospital NHS Foundation Trust , Swindon SN3 6BB ,","place":["UK"]},{"name":"Department of Endocrinology, Sheikh Khalifa Hospital, Fujairah, UAE"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Alias","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Great Western Hospital NHS Foundation Trust , Swindon SN3 6BB ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1385-3961","authenticated-orcid":false,"given":"David","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry (Synnovis), Kings College Hospital NHS Foundation Trust, London SE5 9RS ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piers","family":"Fulton","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genomics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Brimingham B15 2TG ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thalia","family":"Antoniadi","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genomics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Brimingham B15 2TG ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"issue":"4","key":"2025100913162838000_luaf212-B1","first-page":"204","article-title":"A case of 3\u03b2-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis","volume":"68","author":"Nordenstr\u00f6m","year":"2007","journal-title":"Horm Res"},{"issue":"3","key":"2025100913162838000_luaf212-B2","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s12020-018-01835-3","article-title":"Clinical perspectives in congenital adrenal hyperplasia due to 3\u03b2-hydroxysteroid dehydrogenase type 2 deficiency","volume":"63","author":"Al Alawi","year":"2019","journal-title":"Endocrine"},{"issue":"8","key":"2025100913162838000_luaf212-B3","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1210\/mend-5-8-1147","article-title":"Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase\/delta 5-delta 4-isomerase in human adrenals and gonads","volume":"5","author":"Rh\u00e9aume","year":"1991","journal-title":"Mol Endocrinol"},{"issue":"6","key":"2025100913162838000_luaf212-B4","first-page":"2556","article-title":"A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3\u03b2-hydroxysteroid dehydrogenase (3\u03b2-HSD) gene causing, respectively, nonclassic and classic 3\u03b2-HSD deficiency congenital adrenal hyperplasia","volume":"87","author":"Pang","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2025100913162838000_luaf212-B5","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1210\/jc.2004-1374","article-title":"Forest, delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3\u03b2-hydroxysteroid dehydrogenase deficiency","volume":"90","author":"Johannsen","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2025100913162838000_luaf212-B6","doi-asserted-by":"crossref","first-page":"3128","DOI":"10.3390\/jcm12093128","article-title":"Clinical update on congenital adrenal hyperplasia: recommendations from a multidisciplinary adrenal program","volume":"12","author":"Uslar","year":"2023","journal-title":"J Clin 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literature","volume":"6","author":"Alkhaddo","year":"2022","journal-title":"J Endocr Soc"}],"container-title":["JCEM Case 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