Woźniak Beata, Leszczyńska Dorota, Szatko Alicja, Nowak Karolina, Samsel Radosław, Siejka Anna, Papierska Lucyna, Zgliczyński Wojciech, Falhammar Henrik, Glinicki Piotr
Department of Endocrinology, Centre of Postgraduate Medical Education, Warsaw, Poland.
EndoLab Laboratory, Centre of Postgraduate Medical Education, Warsaw, Poland.
Front Endocrinol (Lausanne). 2024 Nov 21;15:1499836. doi: 10.3389/fendo.2024.1499836. eCollection 2024.
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 21-hydroxylase 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.
在肾上腺类固醇生成过程中，17-羟孕酮（17-OHP）是21-羟化酶的底物，21-羟化酶是皮质醇和醛固酮生物合成途径中的关键酶之一。因此，当怀疑因21-羟化酶缺乏导致先天性肾上腺增生（CAH）时，会检测血清17-OHP浓度。在典型的21-羟化酶缺乏症中，使用不同的免疫测定法，随机测定的17-OHP通常会显著升高。在非典型CAH（NC-CAH）中，21-羟化酶的活性降低程度较小，因此通常需要在促肾上腺皮质激素（ACTH）刺激试验后测定17-OHP以进行诊断。尽管如此，17-OHP浓度升高也可能源于肾上腺肿瘤或卵巢肿瘤，这是由于类固醇生成缺陷导致类固醇前体积累所致。本文介绍的病例和文献综述提醒人们注意，存在类固醇生成缺陷的良性肾上腺腺瘤的罕见病因可能会导致CAH的误诊。
