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ABSTRACT: Context
Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment. Lack of optimal biomarkers has made it challenging to tailor therapy and predict long-term outcomes.Objective
To identify biomarkers of disease control and long-term complications in 21OHD.Setting and participants
Cross-sectional study of 114 patients (70 males), ages 2 to 67 years (median, 15 years), seen in a tertiary referral center.Methods
We correlated a mass-spectrometry panel of 23 steroids, obtained before first morning medication, with bone age advancement (children), adrenal volume (adults), testicular adrenal rest tumors (TART), hirsutism, menstrual disorders, and pituitary hormones.Resu
SUBMITTER: Turcu AF
PROVIDER: S-EPMC5546849 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature