ECE2019 Poster Presentations Reproductive Endocrinology 1 (40 abstracts)
Definition of hormonal cut-off values for discriminating polycystic ovary syndrome from non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Claudia Oriolo 1 , Soara Menabò 2 , Daniela Ibarra Gasparini 1 , Paola Altieri 1 , Francesca Corzani 1 , Lilia Baldazzi 2 , Silvia Castelli 1 , Uberto Pagotto 1 & Alessandra Gambineri 1
1Endocrinology Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; 2Pediatric Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Objective: The aim of this study was to define which hormonal cut-off values can discriminate polycystic ovary syndrome (PCOS) from non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH).
Patients and methods: We included 70 women in reproductive age who attended our Unit from 2003 to 2018 for a diagnosis of PCOS with a basal 17hydroxyprogesterone (17OHP) level in the follicular phase of the menstrual cycle ≥200 ng/dl measured by 17OHP Bridge RIA immunoassay (Adaltis, Guidonia, Italy). All patients performed CYP21A2 gene analysis by direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA), that we used to discriminate PCOS from 21-NCAH. They also performed a 1-24ACTH test in the follicular phase of the menstrual cycle.
Results: Twenty-three patients resulted affected by 21-NCAH, 15 were found to be heterozygotes for the 21-hydroxylase deficiency (21-HTZ) and 32 had no mutations for CYP21A2 gene (21-NM). As expected, the three groups significantly differed for basal 17OHP levels (21-NCAH: 2072±2671 ng/dl; 21-HTZ: 298±88 ng/dl; 21-NM: 322±110 ng/dl; P value <0.001). Accordingly, 17OHP levels at 60 minutes of the 1-24ACTH test (17OHP60) resulted significantly higher in affected than in unaffected patients; (21-NCAH: 5022±5203 ng/dl; 21-HTZ: 638±393 ng/dl; 21-NM: 515±290 ng/dl; P value <0.001). Cut-offs were generated for basal 17OHP and 17OHP60 by linear interpolation methods of determining quartiles. The cut-off values yielding the best sensitivity were ≥350 ng/dl for basal 17OHP and ≥677 ng/dl for 17OHP60. Using these cut-off values 1/23 patient with 21-NCAH (4%) could be diagnosed as PCOS, whereas 4/47 PCOS (8%), 3 of 21-NM group and 1 of 21-HTZ group, could be diagnosed as 21-NCAH.
Conclusion: We found that the contemporary use of basal and stimulated 17OHP is a valid diagnostic method to distinguish 21-NCAH from PCOS. The best thresholds seem to be 350 ng/dl for basal 17OHP and 677 ng/dl for 17OHP60, as measured by RIA immunoassay, still being nowadays the most used way to measure 17OHP in italian labs.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more