Yanar E A, Makazan N V, Ioutsi V A, Kareva M A, Bezlepkina O B, Peterkova V A
Endocrinology Research Centre.
Probl Endokrinol (Mosk). 2022 Nov 3;68(6):110-120. doi: 10.14341/probl13166.
Adrenocortical adenomas are often followed with steroid hormones hyperproduction, and therefore determination of their concentration plays an important role in the differential diagnosis of adrenal diseases. Steroid profiling by tandem mass spectrometry is one of the main diagnostic methods in steroidogenesis characterization. Currently plasma and urinary steroid profiling is of particular interest in differential diagnosis and subtyping patients with adrenocortical adenomas.
Steroid profiling of pediatric patients with adrenal diseases (incidentalomas, ACTH-secreting pituitary adenoma, ACTH-independent Cushing syndrome, premature adrenarche).
We conducted a retrospective analysis of steroid profile of 41 pediatric patients with adrenal diseases who were observed between 2005 and 2020 at the Endocrinology Research Centre.
All patients were divided into groups due to diagnosis: with ACTH-secreting pituitary adenoma [n=7], ACTH-independent Cushing syndrome (autonomous cortisol secretion by an adrenal adenoma) [n=4], with incidentaloma [n=7] and premature adrenarche [n=23]. In group of patients with ACTH-independent Cushing syndrome identified statistically significant higher levels of 11-deoxycortisol (р=0, 0035) and significant lower levels of 17-hydroxypregnenolone (р=0, 0026) and DHEA (р=0, 0047) compared to other groups. Statistically significant differences in steroid profiles between other groups were not identified.
Results of our study steroid profiling can be used as additional differential diagnosis method in patients with adrenocortical adenomas with or without hormonal hyperproduction (ACTH-independent Cushing syndrome and incidentaloma). Further studies are needed to identify steroid markers for subtyping pediatric adrenal diseases.
肾上腺皮质腺瘤常伴有类固醇激素过度分泌，因此其浓度的测定在肾上腺疾病的鉴别诊断中起着重要作用。串联质谱法进行类固醇谱分析是类固醇生成特征分析的主要诊断方法之一。目前，血浆和尿液类固醇谱分析在肾上腺皮质腺瘤患者的鉴别诊断和亚型分类中备受关注。
对患有肾上腺疾病（偶发瘤、促肾上腺皮质激素分泌性垂体腺瘤、促肾上腺皮质激素非依赖性库欣综合征、性早熟）的儿科患者进行类固醇谱分析。
我们对2005年至2020年在内分泌学研究中心观察的41例患有肾上腺疾病的儿科患者的类固醇谱进行了回顾性分析。
所有患者根据诊断分为几组：促肾上腺皮质激素分泌性垂体腺瘤组[n = 7]、促肾上腺皮质激素非依赖性库欣综合征（肾上腺腺瘤自主分泌皮质醇）组[n = 4]、偶发瘤组[n = 7]和性早熟组[n = 23]。与其他组相比，促肾上腺皮质激素非依赖性库欣综合征组患者的11 - 脱氧皮质醇水平在统计学上显著升高（р = 0.0035），而17 - 羟孕烯醇酮（р = 0.0026）和脱氢表雄酮（DHEA）（р = 0.0047）水平在统计学上显著降低。未发现其他组之间类固醇谱存在统计学上的显著差异。
我们的研究结果表明，类固醇谱分析可作为伴有或不伴有激素过度分泌（促肾上腺皮质激素非依赖性库欣综合征和偶发瘤）的肾上腺皮质腺瘤患者的辅助鉴别诊断方法。需要进一步研究以确定用于儿科肾上腺疾病亚型分类的类固醇标志物。
