Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases

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dc.authoridTeoman Akçay / 0000-0002-8252-7089
dc.authorscopusidTeoman Akçay / 23968688000
dc.authorwosidTeoman Akçay / AFG-8460-2022
dc.contributor.authorGuran, Tulay
dc.contributor.authorKara, Cengiz
dc.contributor.authorYildiz, Melek
dc.contributor.authorBitkin, Eda C.
dc.contributor.authorHaklar, Goncagul
dc.contributor.authorLin, Jen-Chieh
dc.contributor.authorKeskin, Mehmet
dc.contributor.authorBarnard, Lise
dc.contributor.authorAnik, Ahmet
dc.contributor.authorCatli, Gonul
dc.contributor.authorGuven, Ayla
dc.contributor.authorKirel, Birgul
dc.contributor.authorTutunculer, Filiz
dc.contributor.authorOnal, Hasan
dc.contributor.authorTuran, Serap
dc.contributor.authorAkçay, Teoman
dc.contributor.authorAtay, Zeynep
dc.contributor.authorYilmaz, Gulay C.
dc.contributor.authorMamadova, Jamala
dc.contributor.authorAkbarzade, Azad
dc.contributor.authorSirikci, Onder
dc.contributor.authorStorbeck, Karl-Heinz
dc.contributor.authorBaris, Tugba
dc.contributor.authorChung, Bon-Chu
dc.contributor.authorBereket, Abdullah
dc.date.accessioned2020-08-30T20:06:13Z
dc.date.available2020-08-30T20:06:13Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Hastaneen_US
dc.descriptionTuran, Serap/0000-0002-5172-5402; GURAN, TULAY/0000-0003-2658-6866en_US
dc.descriptionAkcay, Teoman (isu author)
dc.description.abstractContext: The clinical effects of classical 3 beta-hydroxysteroid dehydrogenase 2 (3 beta HSD2) deficiency are insufficiently defined due to a limited number of published cases. Objective: To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3 beta HSD2 deficiency. Design: Multicenter, cross-sectional study. Setting: Nine tertiary pediatric endocrinology clinics across Turkey. Patients: Children with clinical diagnosis of 3 beta HSD2 deficiency. Main Outcome Measures: Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3 beta HSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS. Results: Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 +/- 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3 beta HSD2 activity in vitro had a non-salt-losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed. Conclusions: Genetically-documented 3 beta HSD2 deficiency includes salt-losing and non-salt-losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3 beta HSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3 beta HSD2 deficiency.en_US
dc.description.sponsorshipMedical Research Council of Marmara University [SAG-C-TUP-131216-0528]en_US
dc.description.sponsorshipThis work has been supported by the Medical Research Council of Marmara University(Project Grant SAG-C-TUP-131216-0528 to TG).en_US
dc.identifier.citationGuran, T., Kara, C., Yildiz, M., Bitkin, E. C., Haklar, G., Lin, J.-C., … Bereket, A. (2020). Revisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 105(4). https://doi.org/10.1210/clinem/dgaa022en_US
dc.identifier.doi10.1210/clinem/dgaa022en_US
dc.identifier.issn0021-972Xen_US
dc.identifier.issn1945-7197en_US
dc.identifier.issue4en_US
dc.identifier.pmid31950145en_US
dc.identifier.scopus2-s2.0-85081145912en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1210/clinem/dgaa022
dc.identifier.urihttps://hdl.handle.net/20.500.12713/425
dc.identifier.volume105en_US
dc.identifier.wosWOS:000525950100005en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorAkçay, Teomanen_US
dc.language.isoenen_US
dc.publisherEndocrine Socen_US
dc.relation.ispartofJournal of Clinical Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject3 Beta Hsd2 Deficiencyen_US
dc.subjectCahen_US
dc.subjectHsd3b2en_US
dc.subjectAdrenal Insufficiencyen_US
dc.subjectChildrenen_US
dc.titleRevisiting Classical 3 beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Casesen_US
dc.typeArticleen_US

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