Late-onset 21-hydroxylase deficiency: Reliable diagnosis by steroid analysis of random urine collections (original) (raw)
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Experimental and Clinical Endocrinology & Diabetes, 2003
The aetiology of inappropriate peripubertal virilization refers to heterogeneous diseases. Precocious pubarche, hirsutism or oligomenorrhea are the most common manifestations of hyperandrogenism, which is usually caused by non-classical 21-OHD or 11b-hydroxylase deficiency, mild 3b-hydroxysteroid dehydrogenase deficiency, polycystic ovary syndrome or androgen producing tumour. In most cases of isolated hirsutism the androgen production is normal .
Urinary Steroidomic Profiles by LC-MS/MS to monitor Classic 21-Hydroxylase Deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 2019
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Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)
Clinical Pediatric Endocrinology, 2015
Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The "Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)" published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.
Endocrine Connections
Immunoassays of steroid hormones are still used in the diagnosis and monitoring of patients with congenital adrenal hyperplasia. However, cross-reactivity between steroids can give rise to falsely elevated steroid levels. Here we compare the use of immunoassays and liquid chromatography-tandem mass spectrometry (LC-MS/MS) in the monitoring of patients with classic 21-hydroxylase deficiency (21OHD). Steroid profiles in different mutation groups (genotypes) were also compared. Fifty-five patients with classic 21OHD (38 women) were studied. Blood samples were collected in the morning after an overnight medication fast. LC-MS/MS and immunoassays were employed to assay 17-hydroxyprogesterone (17OHP), testosterone and androstenedione. In addition, 21-deoxycortisol (21DF), 11-deoxycortisol (11DF), corticosterone, deoxycorticosterone, cortisone and cortisol were analyzed by LC-MS/MS. Testosterone, androstenedione and 17OHP levels were consistently lower (by about 30-50%) when measured by LC...