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Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11ß-Hydroxylase Deficiency.
Yildiz, Melek; Isik, Emregul; Abali, Zehra Yavas; Keskin, Mehmet; Ozbek, Mehmet Nuri; Bas, Firdevs; Ucakturk, Seyit Ahmet; Buyukinan, Muammer; Onal, Hasan; Kara, Cengiz; Storbeck, Karl-Heinz; Darendeliler, Feyza; Cayir, Atilla; Unal, Edip; Anik, Ahmet; Demirbilek, Huseyin; Cetin, Tugba; Dursun, Fatma; Catli, Gonul; Turan, Serap; Falhammar, Henrik; Baris, Tugba; Yaman, Ali; Haklar, Goncagul; Bereket, Abdullah; Guran, Tulay.
Afiliación
  • Yildiz M; Department of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Isik E; Department of Pediatric Endocrinology and Diabetes, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Abali ZY; Clinics of Pediatric Endocrinology, Gaziantep Children's Hospital, Gaziantep, Turkey.
  • Keskin M; Department of Pediatric Endocrinology and Diabetes, Marmara University, Faculty of Medicine, Istanbul, Turkey.
  • Ozbek MN; Department of Pediatric Endocrinology and Diabetes, Gaziantep University, School of Medicine , Gaziantep, Turkey.
  • Bas F; Department of Pediatric Endocrinology and Diabetes, SBU Diyarbakir Gazi Yasargil Education and Research Hospital, Diyarbakir, Turkey.
  • Ucakturk SA; Department of Pediatric Endocrinology and Diabetes, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Buyukinan M; Department of Pediatric Endocrinology, Ankara City Hospital, Children's Hospital, Ankara, Turkey.
  • Onal H; Department of Pediatric Endocrinology, Konya Training and Research Hospital, Konya, Turkey.
  • Kara C; Department of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Storbeck KH; Department of Pediatrics, Division of Pediatric Endocrinology, Altinbas University, Faculty of Medicine, Istanbul, Turkey.
  • Darendeliler F; Department of Biochemistry, Stellenbosch University, Stellenbosch, South Africa.
  • Cayir A; Department of Pediatric Endocrinology and Diabetes, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Unal E; Department of Pediatric Endocrinology and Diabetes, Erzurum Training and Research Hospital, Erzurum, Turkey.
  • Anik A; Department of Pediatric Endocrinology and Diabetes, SBU Diyarbakir Gazi Yasargil Education and Research Hospital, Diyarbakir, Turkey.
  • Demirbilek H; Department of Pediatric Endocrinology and Diabetes, Adnan Menderes University, School of Medicine , Aydin, Turkey.
  • Cetin T; Department of Pediatric Endocrinology and Diabetes, Hacettepe University, School of Medicine , Ankara, Turkey.
  • Dursun F; Department of Pediatric Endocrinology, Sanliurfa Training and Research Hospital, Sanliurfa, Turkey.
  • Catli G; Department of Pediatric Endocrinology and Diabetes, Istanbul University of Health Science, Umraniye Training and Research Hospital, Istanbul, Turkey.
  • Turan S; Department of Pediatric Endocrinology, Izmir Katip Celebi University, School of Medicine , Izmir, Turkey.
  • Falhammar H; Department of Pediatric Endocrinology and Diabetes, Marmara University, Faculty of Medicine, Istanbul, Turkey.
  • Baris T; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.
  • Yaman A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Haklar G; Gelisim Genetik Tani Merkezi, Istanbul, Turkey.
  • Bereket A; Department of Biochemistry, Marmara University, Faculty of Medicine, Istanbul, Turkey.
  • Guran T; Department of Biochemistry, Marmara University, Faculty of Medicine, Istanbul, Turkey.
J Clin Endocrinol Metab ; 106(9): e3714-e3724, 2021 08 18.
Article en En | MEDLINE | ID: mdl-33830237
BACKGROUND: Given the rarity of 11ß-hydroxylase deficiency (11ßOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11ßOHD) and nonclassic 11ßOHD (NC-11ßOHD). OBJECTIVE: To characterize a multicenter pediatric cohort with 11ßOHD. 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-11ßOHD, n = 92; NC-11ßOHD, 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-11ßOHD girls had ambiguous genitalia (C-11ßOHD 100%), and none of the NC-11ßOHD patients were hypertensive (C-11ßOHD 50%). Compared to NC-11ßOHD, C-11ßOHD 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-11ßOHD. 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-11ßOHD than NC-11ßOHD patients (P < 0.05). The 11-deoxycortisol/cortisol ratio >2.2, <1.5, and <0.1 had 100% specificity to segregate C-11ßOHD, NC-11ßOHD, and control groups. CONCLUSION: NC-11ßOHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11ßOHD.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hiperplasia Suprarrenal Congénita / Hormonas Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Endocrinol Metab Año: 2021 Tipo del documento: Article País de afiliación: Turquía

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hiperplasia Suprarrenal Congénita / Hormonas Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Endocrinol Metab Año: 2021 Tipo del documento: Article País de afiliación: Turquía