ECE2023 Eposter Presentations Adrenal and Cardiovascular Endocrinology (124 abstracts)
21-hydroxylase deficient congenital adrenal hyperplasia in adult endocrinology clinics of turkey: A nationwide multicenter study
Melek Eda Ertorer 1 , İnan Anaforoglu 2 , Nusret Yilmaz 3 , Gamze Akkus 4 , Seda Turgut 5 , Kursad Unluhizarci 6 , Ozlem Soyluk Selcukbiricik 7 , Fatma Avcı Merdin 8 , Ersen Karakilic 9 , Esma Pehlivan 10 , Goknur Yorulmaz 11 , Ozen Oz Gul 12 , Rifat Emral 8 , Medine Nur Kebapci 11 , Fettah Acubucu 13 , Dilek Tuzun 14 , Suheyla Gorar 15 , Emek Topuz 14 , Gulay Simsek Bagir 1 , Selin Genc 16 , Kezban Demir 17 , Gonca Tamer 17 , Guzin Yaylali 18 , Tülay Omma 19 , Sevde Nur Firat 19 , Gönül Koç 19 , Emre Sedar Saygili 9 & Banu Sarer Yurekli 10
1Baskent University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey; 2Mehmet Ali Aydınlar University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey; 3Akdeniz University Faculty of Medicine, Endocrinology and Metabolism, Antalya, Turkey; 4Cukurova University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey; 5University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Endocrinology and Metabolism, Istanbul, Turkey; 6Erciyes University Faculty of Medicine, Endocrinology and Metabolism, Kayseri, Turkey; 7Istanbul University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey; 8Ankara University Faculty of Medicine, Endocrinology and Metabolism, Ankara, Turkey; 9Canakkale 18 Mart University Faculty of Medicine, Endocrinology and Metabolism, Canakkale, Turkey; 10Ege University Faculty of Medicine, Endocrinology and Metabolism, Izmir, Turkey; 11Eskisehir Osmangazi University Faculty of Medicine, Endocrinology and Metabolism, Eskisehir, Turkey; 12Uludag University Faculty of Medicine, Endocrinology and Metabolism, Bursa, Turkey; 13University of Health Sciences, Adana Training and Research Hospital, Endocrinology and Metabolism, Adana, Turkey; 14K. Maras Sutcu Imam University Faculty of Medicine, Endocrinology and Metabolism, K. Maras, Turkey; 15University of Health Sciences, Antalya Training and Research Hospital, Endocrinology and Metabolism, Antalya, Turkey; 16Inonu University Faculty of Medicine, Endocrinology and Metabolism, Malatya, Turkey; 17Istanbul Medeniyet University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey; 18Pamukkale University Faculty of Medicine, Endocrinology and Metabolism, Denizli, Turkey; 19University of Health Sciences, Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey
Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders that are characterised by inactivating mutations at various steps of adrenal steroidogenic pathways causing defective cortisol biosynthesis. 21-Hydroxylase enzyme deficiency (21-OHd) constitutes more than 95% of all CAH cases.
Material & Methods: Medical records of patients with all forms of CAH from 19 adult endocrinology clinics located at six different geographical regions of Turkey are evaluated in this multicentre study. Findings of 21-OHd CAH cases (n=181) eligible for analysis are given.
Findings: There were 101 (55.8%) classical and 80 (44.2%) nonclassical 21-OHd CAH cases. General features of cases can be found in Table. More patients in nonclassical CAH group were married and had children. Reconstructive genital surgery was performed in 54 (78.3%) of classical CAH females and 42 (77.8%) of them had no children. Data about genetic analysis were reached in 120 cases (57 classical CAH, 63 NCAH). V281L mutation was detected in 21 (33.3%) of 21-OHd NCAH patients.
| 21-OHd CAH (n=181) | Classical CAH (n=101) | Non-Classical CAH (n=80) | P |
| (55.8%) | (44.2%) | ||
| Gender (n, %) | |||
| Male | 31 (30.7) | 8 (10) | 0.002 |
| Female | 69(68.3) | 72 (90) | |
| Female to male | 1 (1.0) | ||
| Age at diagnosis (years) | 4.99 ±9.86 | 20.02 ± 12.67 | 0.02 |
| Time on follow-up (years) | 17.49±9.43 (n=97) | 7.23±8.71 (n=71) | 0.176 |
| Education Level (n,%) | |||
| Unknown | 17 (16.8) | 12 (15) | 0.375 |
| Preliminary School and below | 10 (10) | 10 (12.6) | |
| High School | 46 (45.5) | 30 (37.5) | |
| University degree and above | 28 (27.7) | 28 (35.1) | |
| Diagnosing Physician (n=180) (n,%) | |||
| General or Pediatric Endocrinologist | 83 (82.2) | 20 (25.3) | 0.000 |
| Internal Medicine Specialist/ Adult Endocrinologist | 8 (7.9) | 54 (68.4) | |
| Gynecologist or Others | 10 (9.9) | 5 (6.3) | |
| Consanguinity between parents (n, %) | |||
| YES | 54 (53.5) | 14 (17.5) | 0.000 |
| NO | 36 (35.6) | 42 (52.5) | |
| Unknown | 11 (10.9) | 24 (30) | |
| Marital Status (n, %) | |||
| Single | 65 (64.4) | 41 (51.2) | 0.003 |
| Married | 21 (20.8) | 33 (41.3) | |
| Divorced | 0 (0.0) | 2 (2.5) | |
| Unknown | 15 (14.9) | 4 (5.0) | |
| Having children (n, %) | |||
| YES | 6 (5.9) | 29 (36.3) | 0.000 |
| NO | 77 (76.2) | 40 (50.0) | |
| Unknown | 18 (17.8) | 11 (13.8) | |
| Used Glucocorticoid name(n, %) | (n=101) | (n=77) | |
| Dexamethasone | 21 (20.8) | 8 (10.4) | 0.000 |
| Methylprednisolone | 5 (5.0) | 0 (0.0) | |
| Prednisolone | 23 (22.8) | 9 (11.7) | |
| Hydrocortisone | 43 (42.6) | 12 (15.6) | |
| Dexamethasone + Methylprednisolone | 1 (1.0) | 0 (0.0) | |
| Dexamethasone + Hydrocortisone | 3 (3.0) | 0 (0.0) | |
| Unknown-None | 5 (5.0) | 48 (62.3) | |
Discussion: Interpretation of findings of this study will improve our knowledge about CAH and will inevitably result in better health service.
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Endocrine Abstracts
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