Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adrenal steroids at the same time without these interferences. We aimed to evaluate the effectiveness of LC-MS/MS method in diagnosis of patients with hyperandrogenism and to compare the results with ECLIA/ELISA methods.
Method: Ninetysix girls who admitted with premature adrenarche (PA), hirsutismus aged between 6-18 years were included. Serum total testosterone and DHEA-S levels were measured by ECLIA; serum 17-OH progesterone (17-OHPG) levels were measured by ELISA method, plasma steroid hormones including total testosterone, DHEA, DHEA-S, DHT, androstenedione, 17-OHPG were measured by LC-MS/MS. Normal values were evaluated according to Tanner stages.
Results: Thirty seven of the patients were PA (38.5%), 24 PCOS (25%), 5 non-classical CAH (5.2%) and 30 (31.2%) idiopathic hirsutismus. While menstrual cycles were regular in 10 (41.6%) of PCOS cases, secondary amenorrhea or oligomenorrhea was described in 14 (58.4%). Eighteen (18.8%) of the cases were obese and 32 (33.3%) were overweight. According to LC-MS/MS method 36 (37.1%) of DHEA, 18(18.6%) of androstenedione, 20 (20.8%) of DHT, 15 (15.8%) of DHEA-S, and 6 (6.4%) of total testosterone measurements were elevated. At least one of the androgens were increased in 58 (60%) of the patients. The highest androgen was DHEA; in PA 24.3%, in PCOS 64.0% and in idiopathic hirsutism 27.6% of patients had increased DHEA levels. By ECLIA method median DHEA-S level was 124.7mg/dL (8.3-625), while by LC-MS/MS it was 61.2mg/dL (0.1-618.4) (P < 0.001). In all cases, median 17-OHPG level was 147.5ng/dL (0.3-1338) by ELISA, 44.85 ng/dL (0.3-2248) by LC-MS/MS method. In 21 (21.8%) of the cases, 17-OHPG level was above 200ng/dL by ELISA, while normal values were found in 16 (76.1%) of them by LC-MS/MS. In 5 (5.2%) of these cases, genetically proven non-classical CAH was diagnosed.
Conclusion: In evaluating children and adolescent girls with hyperandrogenism; LC-MS/MS method is more valuable than other methods. By LC-MS/MS, false positive 17-OHPG and DHEA-S measurements will be minimized and unnecessary investigations can be prevented. DHEA was the highest androgen/androgen precursor in patients with PA, PCOS and idiopathic hirsutismus.
22 Sep 2021 - 26 Sep 2021