{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:56Z","timestamp":1792141376166,"version":"4.4.0"},"reference-count":118,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T00:00:00Z","timestamp":1662508800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Medicine and Pharmacy of Craiova","award":["26\/531\/21 31 May 2022"],"award-info":[{"award-number":["26\/531\/21 31 May 2022"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>We aim to review data on 3beta-hydroxysteroid dehydrogenase type II (3\u03b2HSD2) deficiency. We identified 30 studies within the last decade on PubMed: 1 longitudinal study (N = 14), 2 cross-sectional studies, 1 retrospective study (N = 16), and 26 case reports (total: 98 individuals). Regarding geographic area: Algeria (N = 14), Turkey (N = 31), China (2 case reports), Morocco (2 sisters), Anatolia (6 cases), and Italy (N = 1). Patients\u2019 age varied from first days of life to puberty; the oldest was of 34 y. Majority forms displayed were salt-wasting (SW); some associated disorders of sexual development (DSD) were attendant also\u2014mostly 46,XY males and mild virilisation in some 46,XX females. SW pushed forward an early diagnosis due to severity of SW crisis. The clinical spectrum goes to: premature puberty (80%); 9 with testicular adrenal rest tumours (TARTs); one female with ovarian adrenal rest tumours (OARTs), and some cases with adrenal hyperplasia; cardio-metabolic complications, including iatrogenic Cushing\u2019 syndrome. More incidental (unusual) associations include: 1 subject with Barter syndrome, 1 Addison\u2019s disease, 2 subjects of Klinefelter syndrome (47,XXY\/46,XX, respective 47,XXY). Neonatal screening for 21OHD was the scenario of detection in some cases; 17OHP might be elevated due to peripheral production (pitfall for misdiagnosis of 21OHD). An ACTH stimulation test was used in 2 studies. Liquid chromatography tandem\u2013mass spectrometry unequivocally sustains the diagnostic by expressing high baseline 17OH-pregnenolone to cortisol ratio as well as 11-oxyandrogen levels. HSD3B2 gene sequencing was provided in 26 articles; around 20 mutations were described as \u201cnovel pathogenic mutation\u201d (frameshift, missense or nonsense); many subjects had a consanguineous background. The current COVID-19 pandemic showed that CAH-associated chronic adrenal insufficiency is at higher risk. Non-adherence to hormonal replacement contributed to TARTs growth, thus making them surgery candidates. To our knowledge, this is the largest study on published cases strictly concerning 3\u03b2HSD2 deficiency according to our methodology. Adequate case management underlines the recent shift from evidence-based medicine to individualized (patient-oriented) medicine, this approach being particularly applicable in this exceptional and challenging disorder.<\/jats:p>","DOI":"10.3390\/diagnostics12092168","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T20:52:03Z","timestamp":1662583923000},"page":"2168","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency"],"prefix":"10.3390","volume":"12","author":[{"given":"Andreea Gabriela","family":"Nicola","sequence":"first","affiliation":[{"name":"Department of Oro-Dental Prevention, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8585-3835","authenticated-orcid":false,"given":"Mara","family":"Carsote","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Carol Davila University of Medicine and Pharmacy, 011863 Bucharest, Romania"},{"name":"Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, Aviatorilor Ave 34-38, Sector 1, 011863 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana-Maria","family":"Gheorghe","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, Aviatorilor Ave 34-38, Sector 1, 011863 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Petrova","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Carol Davila University of Medicine and Pharmacy, 011863 Bucharest, Romania"},{"name":"Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, Aviatorilor Ave 34-38, Sector 1, 011863 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3210-1212","authenticated-orcid":false,"given":"Alexandru Dan","family":"Popescu","sequence":"additional","affiliation":[{"name":"Department of Endodontics, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adela Nicoleta","family":"Staicu","sequence":"additional","affiliation":[{"name":"Department of Endodontics, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6535-3152","authenticated-orcid":false,"given":"Mihaela Jana","family":"\u021auculin\u0103","sequence":"additional","affiliation":[{"name":"Department of Endodontics, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian","family":"Petcu","sequence":"additional","affiliation":[{"name":"Department of Endodontics, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ionela Teodora","family":"Dasc\u0103lu","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiberiu","family":"Tirc\u0103","sequence":"additional","affiliation":[{"name":"Department of Oro-Dental Prevention, Faculty of Dental Medicine, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.jpag.2017.04.001","article-title":"Congenital Adrenal Hyperplasia","volume":"30","author":"Witchel","year":"2017","journal-title":"J. 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