Division of Endocrinology (R.P., L.Z., F.F., M.M., A.F., A.M.M.L., A.R., D.R., A.G.), Department of Medical and Surgical Sciences, and Centre for Applied Biomedical Sciences (F.F., M.M., A.F.), University Alma Mater Studiorum, Sant'Orsola-Malpighi Hospital, Bologna, 40138 Italy.
J Clin Endocrinol Metab. 2016 May;101(5):2013-22. doi: 10.1210/jc.2015-4009. Epub 2016 Mar 10.
This study was designed to assess the steroid profiling by liquid chromatography coupled with tandem mass spectrometry in PCOS women with different phenotypes.
Cross-sectional study.
University hospital of Bologna, Italy.
A total of 156 PCOS women and 141 controls comparable for age were investigated. All underwent a steroid profiling by liquid chromatography coupled with tandem mass spectrometry. Metabolic parameters were also investigated and hirsutism was measured by the modified Ferriman-Gallwey (mF-G) score.
Three distinct phenotypes were initially defined according to the combination of hirsutism (mF-G ≥ 8) and/or high testosterone (T) (HA), oligo-amenorrhea (OA), and polycystic ovarian morphology (PCOm); OA + PCOm (n = 43), HA + OA (n = 65), and HA + OA + PCOm (n = 45). T, androstenedione (A), and free androgen index (FAI) levels progressively increased in the 3 PCOS phenotypes with respect to the controls, with the highest values in the HA + OA + PCOm phenotype. The various combinations of hirsutism, high T, high A, and high FAI made it possible to categorize the 3 original phenotypes into 8 hyperandrogenic subgroups, characterized by divergent additional steroid profile and metabolic pattern. A total of 90% of patients with PCOS thus proved hyperandrogenic. Interestingly, half the PCOS women originally classified as having the OA-PCOm phenotype were categorized in a hyperandrogenic subgroup. No significant correlation was found between T, A, and the mF-G score. In contrast, significant correlation was found between A and both T and FAI.
This study provides evidence that, by including a steroid profile in the definition of hyperandrogenemia, the majority of women with PCOS are hyperandrogenic, although a clinical and biochemical heterogeneity exists. In addition, these data demonstrate that hirsutism and high androgen levels cannot be used indifferently to define hyperandrogenism.
本研究旨在评估不同表型的多囊卵巢综合征（PCOS）女性中通过液相色谱-串联质谱法进行的类固醇分析。
横断面研究。
意大利博洛尼亚大学医院。
共调查了 156 名 PCOS 女性和 141 名年龄匹配的对照者。所有患者均通过液相色谱-串联质谱法进行类固醇分析。还研究了代谢参数，并通过改良 Ferriman-Gallwey（mF-G）评分测量多毛症。
根据多毛症（mF-G≥8）和/或高睾酮（T）（HA）、少经（OA）和多囊卵巢形态（PCOm）的组合，最初定义了三种不同的表型；OA+PCOm（n=43）、HA+OA（n=65）和 HA+OA+PCOm（n=45）。与对照组相比，PCOS 的 3 种表型中的 T、雄烯二酮（A）和游离雄激素指数（FAI）水平逐渐升高，在 HA+OA+PCOm 表型中达到最高值。多毛症、高 T、高 A 和高 FAI 的各种组合使 3 种原始表型能够分为 8 个高雄性激素亚组，其特征是具有不同的额外类固醇谱和代谢模式。因此，90%的 PCOS 患者被证实为高雄性激素。有趣的是，最初归类为 OA-PCOm 表型的一半 PCOS 女性被归入高雄性激素亚组。T、A 和 mF-G 评分之间没有显著相关性。相反，A 与 T 和 FAI 之间存在显著相关性。
本研究表明，通过在高雄激素血症的定义中纳入类固醇谱，可以发现大多数 PCOS 患者存在高雄激素血症，尽管存在临床和生化异质性。此外，这些数据表明，多毛症和高雄激素水平不能不加区别地用于定义高雄激素血症。
