Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

Autor: Ertorer ME; Baskent University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey., Anaforoglu I; Mehmet Ali Aydınlar University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey. ianaforoglu@hotmail.com., Yilmaz N; Akdeniz University Faculty of Medicine, Endocrinology and Metabolism, Antalya, Turkey., Akkus G; Cukurova University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey., Turgut S; University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Endocrinology and Metabolism, Istanbul, Turkey., Unluhizarci K; Erciyes University Faculty of Medicine, Endocrinology and Metabolism, Kayseri, Turkey., Selcukbiricik OS; Istanbul University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey., Merdin FA; Ankara University Faculty of Medicine, Endocrinology and Metabolism, Ankara, Turkey., Karakilic E; Canakkale 18 Mart University Faculty of Medicine, Endocrinology and Metabolism, Canakkale, Turkey., Pehlivan E; Ege University Faculty of Medicine, Endocrinology and Metabolism, Izmir, Turkey., Yorulmaz G; Eskisehir Osmangazi University Faculty of Medicine, Endocrinology and Metabolism, Eskisehir, Turkey., Gul OO; Uludag University Faculty of Medicine, Endocrinology and Metabolism, Bursa, Turkey., Emral R; Ankara University Faculty of Medicine, Endocrinology and Metabolism, Ankara, Turkey., Kebapci MN; Eskisehir Osmangazi University Faculty of Medicine, Endocrinology and Metabolism, Eskisehir, Turkey., Acubucu F; University of Health Sciences, Adana Training and Research Hospital, Endocrinology and Metabolism, Adana, Turkey., Tuzun D; K. Maras Sutcu Imam University Faculty of Medicine, Endocrinology and Metabolism, K.Maras, Turkey., Gorar S; University of Health Sciences, Antalya Training and Research Hospital, Endocrinology and Metabolism, Antalya, Turkey., Topuz E; K. Maras Sutcu Imam University Faculty of Medicine, Endocrinology and Metabolism, K.Maras, Turkey., Bagir GS; Baskent University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey., Genc SD; Inonu University Faculty of Medicine, Endocrinology and Metabolism, Malatya, Turkey., Demir K; Istanbul Medeniyet University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey., Tamer G; Istanbul Medeniyet University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey., Yaylali G; Pamukkale University Faculty of Medicine, Endocrinology and Metabolism, Denizli, Turkey., Omma T; University of Health Sciences, Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey., Firat SN; University of Health Sciences, Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey., Koc G; University of Health Sciences, Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey., Saygili ES; Canakkale 18 Mart University Faculty of Medicine, Endocrinology and Metabolism, Canakkale, Turkey., Yurekli BS; Ege University Faculty of Medicine, Endocrinology and Metabolism, Izmir, Turkey.
Jazyk: angličtina
Zdroj: Endocrine [Endocrine] 2024 Aug; Vol. 85 (2), pp. 916-925. Date of Electronic Publication: 2024 Apr 08.
DOI: 10.1007/s12020-024-03799-z
Abstrakt: Background and Aims: Congenital adrenal hyperplasia (CAH) is a group of disorders that affect the production of steroids in the adrenal gland and are inherited in an autosomal recessive pattern. The clinical and biochemical manifestations of the disorder are diverse, ranging from varying degrees of anomalies of the external genitalia to life-threatening adrenal insufficiency. This multicenter study aimed to determine the demographics, biochemical, clinical, and genetic characteristics besides the current status of adult patients with CAH nationwide.
Methods: The medical records of 223 patients with all forms of CAH were evaluated in the study, which included 19 adult endocrinology clinics. A form inquiring about demographical, etiological, and genetic (where available) data of all forms of CAH patients was filled out and returned by the centers.
Results: Among 223 cases 181 (81.16%) patients had 21-hydroxylase deficiency (21OHD), 27 (12.10%) had 11-beta-hydroxylase deficiency (110HD), 13 (5.82%) had 17-hydroxylase deficiency (17OHD) and 2 (0.89%) had 3-beta-hydroxysteroid-dehydrogenase deficiency. 21OHD was the most prevalent CAH form in our national series. There were 102 (56.4%) classical and 79 (43.6%) non-classical 210HD cases in our cohort. The age of the patients was 24.9 ± 6.1 (minimum-maximum: 17-44) for classical CAH patients and 30.2 ± 11.2 (minimum-maximum: 17-67). More patients in the 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. Thirty-two (50.8%) NCAH cases had homogenous and 31 (49.2%) had heterogeneous CYP21A2 gene mutations. V281L pathological variation was the most prevalent mutation, it was detected in 35 (55.6%) of 21OHD NCAH patients.
Conclusion: Our findings are compatible with the current literature except for the higher frequency of 110HD and 17OHD, which may be attributed to unidentified genetic causes. A new classification for CAH cases rather than classical and non-classical may be helpful as the disease exhibits a large clinical and biochemical continuum. Affected cases should be informed of the possible complications they may face. The study concludes that a better understanding of the clinical characteristics of patients with CAH can improve the management of the disorder in daily practice.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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