The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency
| العنوان: | The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency |
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| المؤلفون: | Kazuhiro Watanabe, Atsumi Tsuji-Hosokawa, Atsuko Hashimoto, Kaoru Konishi, Nobuyuki Ishige, Harumi Yajima, Akito Sutani, Hisae Nakatani, Maki Gau, Kei Takasawa, Toshihiro Tajima, Tomonobu Hasegawa, Tomohiro Morio, Kenichi Kashimada |
| المصدر: | The Journal of Clinical Endocrinology & Metabolism. 107:3341-3352 |
| بيانات النشر: | The Endocrine Society, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Male, Hydrocortisone, Adrenal Hyperplasia, Congenital, 17-alpha-Hydroxyprogesterone, Endocrinology, Diabetes and Metabolism, Cortodoxone, Biochemistry (medical), Clinical Biochemistry, Infant, Newborn, Androstenedione, Endocrine System Diseases, Biochemistry, Neonatal Screening, Endocrinology, Tandem Mass Spectrometry, Androgens, Humans, Female, Steroids, Chromatography, Liquid |
| الوصف: | Context There are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by liquid chromatography–tandem mass spectrometry (LC-MS/MS). Objective We aimed to define an algorithm for newborn screening of 21OHD by LC-MS/MS, measuring a total of 2077 dried blood spot samples in Tokyo. Methods Five steroids (17α-hydroxyprogesterone [17αOHP], 21-deoxycortisol [21DOF], 11-deoxycortisol [11DOF], androstenedione [4AD], and cortisol [F]) were included in the panel of LC-MS/MS. Samples from 2 cohorts were assayed: Cohort A, 63 “screening positive” neonates who were referred to an endocrinologist (n = 26 with 21OHD; n = 37 false-positive; obtained from 2015 to 2020); and Cohort B, samples (n = 2014) with 17αOHP values in the 97th percentile or above, in the first-tier test with 17αOHP ELISA from 2020 to 2021. Results Analysis of Cohort A revealed that the 3 indexes 21DOF, 11DOF/17αOHP, and (4AD + 17αOHP)/F had higher area under the curve (AUC) values (0.999, 0.997, 0.989, respectively), while the 17αOHP AUC was lower (0.970). Accordingly, in addition to 17αOHP, the 3 markers were included for defining the screening algorithm. The assay of Cohort B revealed that the new algorithm gave 92% of predicted positive predictive value without false-negative cases. We also determined the reference values for the 5 steroids at 4 to 7 days after birth, according to sex and gestational age (GA), revealing extremely low levels of 21DOF at any GA irrespective of sex differences. Conclusion Our study demonstrated the high relevance of 21DOF, (4AD + 17αOHP)/F, and 11DOF/17αOHP, rather than 17αOHP, for 21OHD screening. |
| تدمد: | 1945-7197 0021-972X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c40350f8a13a4ea774267097215279 https://doi.org/10.1210/clinem/dgac521 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....d2c40350f8a13a4ea774267097215279 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457197 0021972X |
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