Monitoring of Therapy in Congenital Adrenal Hyperplasia

Dauber, Andrew; Kellogg, Mark D.; Majzoub, Joseph A.

doi:10.1373/clinchem.2010.146035

Cited by 66 publications

(57 citation statements)

References 52 publications

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“…Diurnal 17OHP curves with dried blood spots can also be used to adjust glucocorticoid doses. Unfortunately, target concentrations are not clearly defined (42).…”

Section: Discussionmentioning

confidence: 99%

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

Nermoen

Brønstad

Fougner

et al. 2012

European Journal of Endocrinology

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Objective: The aim of this study was to determine the genetic, anthropometric and metabolic features in an unselected population of adult Norwegian patients with 21-hydroxylase deficiency (21OHD). Patients, methods and design: Sixty-four 21OHD patients participated (23 men and 41 women; median age 38.5 years; range 19-72 years) in a cross-sectional study including DNA sequencing of CYP21A2, anthropometric measurements including dual X-ray absorptiometry scanning and biochemical analyses. The results were compared with reference cohorts from the general population. Results: We identified four novel and plausibly disease-causing CYP21A2 mutations. Gene deletions/conversions (42.1% of alleles), the splice mutation I2 splice (23.0%) and point mutation I172 N (22.2%) were common. The genotype corresponded to clinical phenotype in 92% of the patients. The prevalence of osteopenia was 48% in males and 34% in females. Both men and women had normal BMI but markedly increased fat mass compared with the normal population. Diastolic blood pressure was higher than normal. Thirty-nine per cent of the women had testosterone levels above the normal range; 13% of the men had testosterone levels below normal. Reduced final height was more pronounced in men (median K11.2 cm, K1.77 SDS) than in women (K6.3 cm, K1.07 SDS). Conclusions: In this population-based survey of 21OHD, we identified four novel mutations and high concordance between genotype and phenotype. The patients had increased fat mass, increased diastolic blood pressure, reduced final height and high frequency of osteopenia among males. These results show unfavourable metabolic features in 21OHD patients indicating a need for improvement of treatment and follow-up.

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“…Diurnal 17OHP curves with dried blood spots can also be used to adjust glucocorticoid doses. Unfortunately, target concentrations are not clearly defined (42).…”

Section: Discussionmentioning

confidence: 99%

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

Nermoen

Brønstad

Fougner

et al. 2012

European Journal of Endocrinology

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“…A total of Ͼ150 CYP21A2 mutations are currently reported, of which at least 97 are the missense type. Although CYP21A2 has been the subject of biochemical studies for the past several decades by clinical evaluation of patients and/or by measuring enzyme activities of recombinant proteins in cultured cells (8) and by structural prediction using different homology models (9, 10) based on other known P450 structures, many aspects of CYP21A2 biochemistry and especially the structural basis of the mutants causing CAH remain poorly understood (11)(12)(13)(14).…”

mentioning

confidence: 99%

Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants

Zhao

Lei

Kagawa

et al. 2012

Journal of Biological Chemistry

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Background: Steroid 21-hydroxylase deficiency accounts for ϳ95% of individuals with congenital adrenal hyperplasia (CAH). Results: The bovine cytochrome P450 21A2 (CYP21A2) crystal structure complexed with the substrate 17-hydroxyprogesterone was determined to 3.0 Å resolution. Conclusion:The structure reveals the binding mode of two molecules of the steroid substrate and accurate residue locations in the protein.Significance: The structure of CYP21A2 enhances our understanding of CAH.

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“…Increase in pigmentation and deviation of the growth centile (length) with an increase in 17 OHP indicate inadequate hydrocortisone replacement whereas cushingoid facies with a suboptimal growth velocity would indicate over treatment (1,6).…”

Section: Clinical Features and Anthropometrymentioning

confidence: 99%

Management of 21 hydroxylase deficiency salt-wasting form of congenital adrenal hyperplasia

Silva

2012

Sri Lanka J. Diabetes Endocrinol. Metab.

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Monitoring of Therapy in Congenital Adrenal Hyperplasia

Cited by 66 publications

References 52 publications

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants

Management of 21 hydroxylase deficiency salt-wasting form of congenital adrenal hyperplasia

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