ECE2021 Audio Eposter Presentations Adrenal and Cardiovascular Endocrinology (80 abstracts)
Adrenal steroid profiling in the diagnostics of partial enzyme defects in the adrenals. Establishment of normal cut-off levels using LC-MS/MS
Grethe Åstrøm Ueland 1 , Sandra R. Dahl 2 , Paal Methlie 1 , Eystein Husebye 3 & Per Medboe Thorsby 2
1Haukeland University Hospital, Department of Medicine, Bergen, Norway; 2Oslo University Hospital Aker, Hormone Laboratory, Department of Medical Biochemistry, Oslo, Norway; 3University of Bergen, Department of clinical medicine, Bergen, Norway
Background
Non-classical congenial adrenal hyperplasia (NCCAH) is an important differential diagnosis in women with acne, hirsutism, menstrual abnormalities and infertility. To diagnose NCCAH can be challenging, and currently used cutoff levels are based on unstandardized immunological assays, no longer in use.
Objective
Define LC-MS/MS based cut-off levels for steroid hormones, to improve diagnosis of NCCAH and other less common partial enzyme defects in the adrenals.
Methods
Basal and cosyntropin stimulated serum samples were collected from 83 healthy adults (52% women), 23–68 years of age. Twenty-two patients evaluated for possible NCCAH were used as a validation cohort. LC-MS/MS determined cut-offs for basal and cosyntropin stimulated 17-OHP, 21-deoxycortsiol (21-DF), 11-deoxycortisol (11-DF), deoxycorticosterone (DOC), corticosterone (B), 17-hydroxypregnenolone (17-OH Preg), cortisone (E), and dehydroepiandrosteron (DHEA) were defined by the 2.5 and 97.5% percentile in healthy subjects respectively.
Results
| Steroid (nmol/l) | 0 min | 60 min | ||
| 2.5 % | 97.5% | 2.5 % | 97.5% | |
| 17OHP | 0.30 | 5.5 | 1.5 | 9.3 |
| 11DF | 0.22 | 2.5 | 0.91 | 5.1 |
| 21DF | < 0.25 | < 0, 25 | 0.26 | 1.9 |
| DOC | 0.07 | 0.39 | 0.26 | 1.3 |
| B | 1.4 | 57 | 45 | 142 |
| 17OHPreg | 3 | –a | 7 | 33 |
| E | 25 | 74 | 25 | 62 |
| DHEA | 4 | 57 | 8 | 114 |
| anot calculated: many results < mLOQ; No significant differences were found between the genders, or between age groups. | ||||
| Steroid (nmol/l) |
Patient 1 | Patient 2 | Patient 3 | Healthy validation cohort (n = 18) | ||||
| 0 min | 60 min | 0 min | 60 min | 0 min | 60 min | 0 min | 60 min | |
| 17OHP | < 5.5 | > 9.3 | < 5.5 | > 9.3 | < 5.5 | > 9.3 | All < 5.5 | n = 1 > 9.3 |
| 21DF | > 0.25 | > 1.9 | < 0.25 | < 1.9 | < 0.25 | < 1.9 | All < 0.25 | All< 1.9 |
All three women with verified NCCAH showed one or more parameters above the defined upper cut-off levels.
Conclusions
We propose that serum steroid profiling by LC-MS/MS should be applied as the initial screening test for NCCAH and other rarer enzyme defects in the adrenals. Our data supports that the cosyntropin stimulation test is still needed in the work-up of this patient group.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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