MSACL 2019 EU Abstract

Non-classic Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome Differentiation Using a Commercially Available LCMS/MS Steroid Profile Kit: A Case Report

Ivana Marković (1,2), Željko Debeljak (1,2), Vatroslav Šerić (1,2)
(1) Institute of Clinical Laboratory Diagnostics, Osijek University Hospital, Osijek, Croatia (2) Faculty of Medicine Osijek, JJ Strossmayer University of Osijek, Osijek, Croatia

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Ivana Marković (Presenter) Osijek University Hospital >> POSTER (PDF)

Presenter Bio: Ivana Marković (30), specialist in medical biochemistry and laboratory medicine. For the last 5 years my work place is the Institute for clinical laboratory diagnostics, Department for Clinical Chemistry in Osijek University Hospital. We use LC-MS/MS on daliy basis for TDM, vit. D, steroid hormone, metanephrines in palasma analysis. Recently we aquired MALDI- imaging and MALDI-TOF/TOF analysers, whit whom we plan to work on tissue and mycrobiology samples.

Relevant Financial Disclosures (within past 24 months) Honorarium/Expenses Shimadzu (expense support) Conflict mitigation NOT REQUIRED.

INTRODUCTION: Hyperandrogenism and oligomenorrhea are common traits of patients with polycistic ovary syndrome (POCS) and nonclassic congenital andrenal hyperplasia (NCAH). As these disorders have a similar presentation, their distinction using solely clinical symptoms is difficult. Of steroid hormones, 17-hydroxyprogesterone concentration is commonly used as discriminator between POCS and NCAH, although the universal cut off value is not yet established.
OBJECTIVES: To evaluate steroid hormone profile for differentiation of NCAH from PCOS in a patient.
METHODS: A 24 years old female patient visited endocrinologist because of acne, mild hirsutism and sporadically excessive sweating accompanied with hot flashes and tachycardia. Her menstrual cycles were regular, as it was ovary ultrasound. Patient also did an ergometry and heart ultrasound due to the sporadically high blood pressure and dyspnea, but these findings were not remarkable. As a part of laboratory work-up, steroid hormone profile which included cortisol, 11-deoxycortisol, 21-deoxycortisol, 11-deoxycorticosterone (11-DOC), dehydroepiandrosteronesulphate (DHEAS), androstendione, testosterone and 17-hydroxyprogesterone (17-OHP), was measured in morning serum obtained during early follicular phase using Recipe ClinMass Steroid in Serum/Plasma kit and Shimdzu Nexera X2 liquid chromatograph coupled with Shimadzu LCMS-8050 mass detector. FSH and LH were measured with chemiluminescent microparticle immunoassay on Abbott Alinity i analyser.
RESULTS: Concentrations of steroid hormones were: cortisol 377 nmol/L (R.I. = 127 – 568), 11-deoxycortisol 9.8 nmol/L (R.I. < 3.1), 11-DOC 1.4 nmol/L (R.I. < 0.3), DHEAS 0.64 µmol/L (R.I. = 1.2 – 8.7), androstendione 12.3 nmol/L (R.I. = 1.2 – 8.7), testosterone 2.52 nmol/L (R.I. = 0.07 – 1.56) and 17-OHP 8.1 nmol/L (R.I. < 5.6). Concentration of 21-deoxycortisol was bellow limit of detection. FSH and LH were within the reference value.
CONCLUSION: Although clinical symptoms were mild, steroid profile and gonadotropin hormone measurement pointed to the NCAH. 11-DOC has mineralocorticoid effect and its elevated concentration is responsible for the elevated blood pressure, while increased testosterone and androstendione contribute to the acne and hirsutism occurrence. Elevated 17-OHP, 11-deoxycortisol and 11-DOC, decreased DHEAS together with elevated concentrations of other hormones from the profile, suggests 11β-hydroxylase deficiency. Steroid profile measurement is useful in PCOS and NCAH differentiation, as well as in distinguishing subtypes of CAH.