Publikasi Scopus 926 artikel (Per 14 Maret 2022)

Marzuki N.S., Idris F.P., Kartapradja H., Renata S., Harahap A., Latief Batubara J.R.
37111053300;57224096699;6504373157;57224098534;6507325543;57224097014;
Accuracy of urinary etiocholanolone/androsterone ratio as alternative to serum testosterone/dihydrotestosterone ratio for diagnosis of 5 alpha-reductase type 2 deficiency patients and carriers in Indonesia
2021
International Journal of Endocrinology and Metabolism
19
2
e109510
Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
Marzuki, N.S., Eijkman Institute for Molecular Biology, Jakarta, Indonesia, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Idris, F.P., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Kartapradja, H., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Renata, S., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Harahap, A., Eijkman Institute for Molecular Biology, Jakarta, Indonesia, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Latief Batubara, J.R., Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
Background: The 5 Alpha-reductase type 2 deficiency (5ARD2) is an inherited condition, which clinically presents as variable degrees of under virilization in affected 46,XY individuals. In the diagnostic pathway of 5ARD2, the testosterone/dihydrotestosterone (T/DHT) ratio is broadly employed before molecular analysis of the SRD5A2 gene. However, due to cost-benefit considerations, the DHT test in our country is routinely lacking in clinical settings; therefore, we considered applying the urinary etiocholanolone/androsterone (Et/An) ratio as an alternative test. Objectives: We aimed to determine the diagnostic value of the urinary Et/An ratio versus the T/DHT ratio in diagnosing 5ARD2 patients and carriers. Methods: Sixty-six suspected 5ARD2 46,XY disorders of sex development (DSD) individuals and 95 family members were recruited in the study. Their clinical manifestations, T/DHT and urinary Et/An ratios, and SRD5A2 genes were analyzed. Using molecular analysis of the SRD5A2 gene as the gold standard, we compared the accuracy of both ratios in diagnosing 5ARD2 patients and carriers with receiver operating characteristic (ROC) curve analysis. Results: Thirty-seven patients were confirmed molecularly to have 5ARD2, and the rest (n = 29) were assessed as normal controls, while in the carrier group, 53 were molecularly confirmed as carriers and 42 as controls. The AUCs (areas under the curve) of the T/DHT and urinary Et/An ratios were 57.7% (95% CI 43.0 - 72.4%, P > 0.05) and 79.7% (95% CI 69.0 - 90.4%, P < 0.001), respectively, in diagnosing 5ARD2 patients and 54.1% (95% CI 42.4 - 65.8%, P > 0.05) and 75.1% (95% CI 65.1 - 85.1%, P < 0.001), respectively, in diagnosing carriers. The cutoff value of the urinary Et/An ratio was set at ≥ 0.95 for detecting 5ARD2 patients and ≥ 0.99 for detecting carriers. Conclusions: The testosterone/DHT ratio was inaccurate in diagnosing 5ARD2 patients. When molecular analysis for the SRD5A2 gene is lacking, the urinary Et/An ratio may be a useful test to diagnose 5ARD2 patients and carriers. Copyright © 2021, International Journal of Endocrinology and Metabolism.
46; 5 Alpha-reductase 2 deficiency; Androsterone; Dihydrotestosterone; Etiocholanolone; SRD5A2; Testosterone; XY DSD
androstanolone; androsterone; chorionic gonadotropin; etiocholanolone; genomic DNA; steroid; steroid 5alpha reductase 2; testosterone; 5 alpha reductase deficiency; adolescent; adult; analytical parameters; area under the curve; Article; child; clinical article; clinical assessment; clinical feature; competitive ELISA; controlled study; cost benefit analysis; diagnostic accuracy; diagnostic value; disorder of sex development; female; genetic analysis; hormone urine level; human; human tissue; Indonesia; infant; male; molecular biology; neutrophil lymphocyte ratio; newborn; receiver operating characteristic; serum testosterone dihydrotestosterone ratio; testosterone blood level; urinary etiocholanolone androsterone ratio
Kowsar Medical Institute
1726913X
Article
Q3
652
7699