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MINI REVIEW article

Front. Endocrinol.
Sec. Adrenal Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1499836
This article is part of the Research Topic Progress and Pitfalls in Molecular and Biochemistry Diagnostics of Adrenal Tumors View all 5 articles

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency

Provisionally accepted
Beata Woźniak Beata Woźniak 1Dorota Leszczyńska Dorota Leszczyńska 1Alicja Szatko Alicja Szatko 1,2*Karolina Nowak Karolina Nowak 1Radoslaw Samsel Radoslaw Samsel 3Anna Siejka Anna Siejka 4Lucyna Papierska Lucyna Papierska 1Wojciech Zgliczyński Wojciech Zgliczyński 1Henrik Falhammar Henrik Falhammar 5,6Piotr Glinicki Piotr Glinicki 1,2
  • 1 Department of Endocrinology, Centre of Postgraduate Medical Education, Warsaw, Masovian, Poland
  • 2 EndoLab Laboratory, Centre of Postgraduate Medical Education, Warsaw, Poland
  • 3 Department of Surgery, Clinic of Surgical Oncology and Neuroendocrine Tumors, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland
  • 4 Clinical Biochemistry Department, The Children’s Memorial Health Institute, Warsaw, Poland
  • 5 Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden
  • 6 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden

The final, formatted version of the article will be published soon.

    In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway. Thus, measurement serum 17-OHP concentration is used when the diagnosis of congenital adrenal hyperplasia (CAH) due to 21hydroxylase deficiency is suspected. In the classic 21-hydroxylase deficiency, randomly timed measurements of 17-OHP are generally significantly elevated using different immunoassays. In the non-classic form of CAH (NC-CAH), the activity of 21-hydroxylase is less decreased, therefore the measurements of 17-OHP after ACTH stimulation test are usually required for diagnosis. Nonetheless, elevated 17-OHP concentration may also origin from adrenal tumors or ovarian neoplasms as a result of defects in steroidogenesis with an accumulation of steroids precursors. The presented cases and the literature review draw attention to the occurrence of rare causes of benign adrenal adenomas with steroidogenesis defects which may lead to a misdiagnosis of CAH.

    Keywords: congenital adrenal hyperplasia, CAH, Adrenal incidentaloma, adrenal tumors, Urine steroid profile, 17-OHP

    Received: 21 Sep 2024; Accepted: 05 Nov 2024.

    Copyright: © 2024 Woźniak, Leszczyńska, Szatko, Nowak, Samsel, Siejka, Papierska, Zgliczyński, Falhammar and Glinicki. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Alicja Szatko, EndoLab Laboratory, Centre of Postgraduate Medical Education, Warsaw, Poland

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