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

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Abstract

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.

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Author information

Authors and Affiliations

  1. Baskent University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey

    Melek Eda Ertorer & Gulay Simsek Bagir

  2. Mehmet Ali Aydınlar University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey

    Inan Anaforoglu

  3. Akdeniz University Faculty of Medicine, Endocrinology and Metabolism, Antalya, Turkey

    Nusret Yilmaz

  4. Cukurova University Faculty of Medicine, Endocrinology and Metabolism, Adana, Turkey

    Gamze Akkus

  5. University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Endocrinology and Metabolism, Istanbul, Turkey

    Seda Turgut

  6. Erciyes University Faculty of Medicine, Endocrinology and Metabolism, Kayseri, Turkey

    Kursad Unluhizarci

  7. Istanbul University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey

    Ozlem Soyluk Selcukbiricik

  8. Ankara University Faculty of Medicine, Endocrinology and Metabolism, Ankara, Turkey

    Fatma Avci Merdin & Rifat Emral

  9. Canakkale 18 Mart University Faculty of Medicine, Endocrinology and Metabolism, Canakkale, Turkey

    Ersen Karakilic & Emre Sedar Saygili

  10. Ege University Faculty of Medicine, Endocrinology and Metabolism, Izmir, Turkey

    Esma Pehlivan & Banu Sarer Yurekli

  11. Eskisehir Osmangazi University Faculty of Medicine, Endocrinology and Metabolism, Eskisehir, Turkey

    Goknur Yorulmaz & Medine Nur Kebapci

  12. Uludag University Faculty of Medicine, Endocrinology and Metabolism, Bursa, Turkey

    Ozen Oz Gul

  13. University of Health Sciences, Adana Training and Research Hospital, Endocrinology and Metabolism, Adana, Turkey

    Fettah Acubucu

  14. K. Maras Sutcu Imam University Faculty of Medicine, Endocrinology and Metabolism, K.Maras, Turkey

    Dilek Tuzun & Emek Topuz

  15. University of Health Sciences, Antalya Training and Research Hospital, Endocrinology and Metabolism, Antalya, Turkey

    Suheyla Gorar

  16. Inonu University Faculty of Medicine, Endocrinology and Metabolism, Malatya, Turkey

    Selin Dincer Genc

  17. Istanbul Medeniyet University Faculty of Medicine, Endocrinology and Metabolism, Istanbul, Turkey

    Kezban Demir & Gonca Tamer

  18. Pamukkale University Faculty of Medicine, Endocrinology and Metabolism, Denizli, Turkey

    Guzin Yaylali

  19. University of Health Sciences, Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey

    Tulay Omma, Sevde Nur Firat & Gonul Koc

Authors
  1. Melek Eda Ertorer
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  2. Inan Anaforoglu
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  3. Nusret Yilmaz
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  4. Gamze Akkus
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  12. Ozen Oz Gul
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  14. Medine Nur Kebapci
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  15. Fettah Acubucu
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  27. Emre Sedar Saygili
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  28. Banu Sarer Yurekli
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Contributions

E.E., İ.A., K.Ü. study design, writing and reviewing All authors collected the data and reviewed the manuscript.

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Correspondence to Inan Anaforoglu.

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Ertorer, M.E., Anaforoglu, I., Yilmaz, N. et al. Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study. Endocrine (2024). https://doi.org/10.1007/s12020-024-03799-z

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