Versity Hospital and Keio University School of Medicine. We recruited 55 infants
Versity Hospital and Keio University College of Medicine. We recruited 55 infants with C21OHD (gestational age, 351 wk; birth weight, 1,6584,174 g), eight infants with NC21OHD (370 wk; 2,704,408 g), 16 infants with PORD (341 wk; 1,018,418 g), 57 infants with TH17OHP (371 wk, 2,062,980 g), and two,473 controls (341 wk, 770,610 g). All infants were Japanese with ages among 080 d, the period in the course of which most patients with C21OHD or PORD are diagnosed (7, 11). The diagnosis of 21OHD and PORD was confirmed by CYP21A2 and POR gene analyses, respectively. Notably, all sufferers with NC21OHD have been constructive in newborn massscreening in Japan. Sufferers with 21OHD having standard genitalia and elevated dried blood spot 17OHP (optimistic benefits in newborn mass-screening), but without having any proof of salt wasting (low serum sodium, higher serum potassium, higher plasma renin activity, and so forth.) were classified as NC21OHD. Any subjects with abnormal physical findings except for external genitalia have been excluded. None in the subjects received antenatal or perinatal glucocorticoid just before urine sampling. We measured urinary steroid metabolites by GC/MS (12). The 21-deoxycortisol metabolite Ptl, as well as the cortisol metabolites 5-tetrahydrocortisone and 5-tetrahydrocortisone (hereafter referredAprilBiochemical diagnosis of NC+C21OHD and PORD5THE 488, 578; 5THE 488, 578; 11OHAn 448, 358; THAldo 506 (quantified ion only); PD5 372, 462. Urinary Siglec-9 Protein Species creatinine was measured by IATRO-LQ CRE (A)II (LSI Medience Co., Tokyo, Japan). Urinary steroid concentration was expressed relative to urinary creatinine (mg/g creatinine). Statistical analysis was performed applying the Mann-Whitney U test. A p worth of 0.05 was regarded as statistically important.Fig. 1. A steroid metabolic map. Strong arrow, steroid synthesis; open arrow, steroid metabolism; solid line, impaired 21-hydroxylase activity; open line, impaired 17-hydroxylase/17,20lyase activity. Initial step, differentiation of C+NC21OHD and PORD from TH17OHP along with the control. Second step, discrimination involving C+NC21OHD and PORD. Each 21-hydroxylase and 17-hydroxylase/17,20-lyase activity are reduced in PORD, whereas only 21-hydroxylase is decreased in C+NC21OHD. Preg, pregnenolone; Prog, progesterone; DOC, deoxycorticosterone; Aldo, THBS1, Human (HEK293, His) aldosterone; 17OHPreg, 17-hydroxypregnenolone; 11DOF, 11-deoxycortisol; DHEA, dehydroepiandrosterone; AD4, androstendione.Outcomes Differentiation of C+NC21OHD and PORD from TH17OHP and controls Results of Ptl and Ptl/THEs are shown in Table 1 and Fig. two. Each Ptl and Ptl/THEs showed equivalent overlap amongst C+NC21OHD, PORD, TH17OHP, and control inside 10 days of age by uniform cutoff by way of 080 d of age (Ptl 0.1 and Ptl/THEs 0.020). We then separately set the cutoff for 00 d of age and 1180 d of age. Ptl differentiated C+NC21OHD and PORD from TH17OHP and control with 100 (95 self-confidence interval (CI): 97.600 ) sensitivity and 100 (95 CI: 99.900 ) specificity employing the 0.06 mg/g creatinine (00 d of age) and 0.3 mg/g creatinine (1180 d of age) cutoffs. Ptl/THEs differentiated with 100 (95 CI: 96.500 ) sensitivity and 99.9 (95 CI: 99.89.9 ) specificity employing the 0.01 (00 d of age) and 0.02 (1180 d of age) cutoffs. Discrimination involving C+NC21OHD and PORD Table 2 and Fig. three show the results of urinary 11OHAn in C+NC21OHD and PORD. 11OHAn discriminated among C21OHD and PORD with 96.eight (95 CI: 93.36.eight ) sensitivity and 100 (95 CI: 86.100 ) specificity using the 0.35 mg/g creatinine cutoff. We then focused on.