Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency

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dc.authoridyaman, ali/0000-0001-5659-5195
dc.authoridKara, Cengiz/0000-0002-8989-560X
dc.authoridDemircioglu, Serap/0000-0002-5172-5402
dc.authoridGURAN, TULAY/0000-0003-2658-6866
dc.authoridCatli, Gonul/0000-0002-0488-6377
dc.authoridBereket, Abdullah/0000-0002-6584-9043
dc.authoridUCAKTURK, Seyit Ahmet/0000-0001-8666-4454
dc.contributor.authorYildiz, Melek
dc.contributor.authorIsik, Emregul
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorKeskin, Mehmet
dc.contributor.authorOzbek, Mehmet Nuri
dc.contributor.authorBas, Firdevs
dc.contributor.authorUcakturk, Seyit Ahmet
dc.date.accessioned2025-02-06T17:58:21Z
dc.date.available2025-02-06T17:58:21Z
dc.date.issued2021
dc.departmentAltınbaş Üniversitesien_US
dc.description.abstractBackground: Given the rarity of 11 beta-hydroxylase deficiency (11 beta OHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11 beta OHD) and nonclassic 11 beta OHD (NC-11 beta OHD). Objective: To characterize a multicenter pediatric cohort with 11 beta OHD. Method: The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. Results: 102 patients (C-11 beta OHD, n = 92; NC-11 beta OHD, n = 10) from 76 families (46,XX; n = 53) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [-1.85 SD score (SDS)] and male 160.4 cm (-2.56 SDS).None of the NC-11 beta OHD girls had ambiguous genitalia (C-11 beta OHD 100%), and none of the NC-11 beta OHD patients were hypertensive (C-11 beta OHD 50%). Compared to NC-11 beta OHD, C-11 beta OHD patients were diagnosed earlier (1.33 vs 6.9 years; P< 0.0001), had higher bone age-to-chronological age (P= 0.04) and lower adult height (-2.46 vs -1.32 SDS; P= 0.05). The concentrations of 11-oxygenated androgens and 21-deoxycortisol were low in all patients. The baseline ACTH and stimulated cortisol were normal in NC-11 beta OHD. Baseline cortisol; cortisone; 11-deoxycortisol; 11-deoxycorticosterone and corticosterone concentrations; and 11-deoxycortisol/cortisol, 11-deoxycorticosterone/cortisol, and androstenedione/cortisol ratios were higher in C-11 beta OHD than NC-11 beta OHD patients (P < 0.05). The 11-deoxycortisol/cortisol ratio >2.2, <1.5, and <0.1 had 100% specificity to segregate C-11 beta OHD, NC-11 beta OHD, and control groups. Conclusion: NC-11 beta OHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11 beta OHD.en_US
dc.description.sponsorshipMedical Research Council of Marmara University [SAG-A-120418-0152]en_US
dc.description.sponsorshipThis work has been supported by the Medical Research Council of Marmara University (Project Grant SAG-A-120418-0152, TG).en_US
dc.identifier.doi10.1210/clinem/dgab225
dc.identifier.endpageE3724en_US
dc.identifier.issn0021-972X
dc.identifier.issn1945-7197
dc.identifier.issue9en_US
dc.identifier.pmid33830237
dc.identifier.scopus2-s2.0-85114356813
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpageE3714en_US
dc.identifier.urihttps://doi.org/10.1210/clinem/dgab225
dc.identifier.urihttps://hdl.handle.net/20.500.12939/5187
dc.identifier.volume106en_US
dc.identifier.wosWOS:000692625700063
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
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/openAccessen_US
dc.snmzKA_WOS_20250206
dc.subjectCYP11B1en_US
dc.subjectcongenital adrenal hyperplasiaen_US
dc.subjectsteroid profilingen_US
dc.subject11-oxygenated androgensen_US
dc.subjectadrenal insufficiencyen_US
dc.subjectandrogen excessen_US
dc.subjectchildrenen_US
dc.titleClinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiencyen_US
dc.typeArticleen_US

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