Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Sarafoglou, Kyriakie; Himes, John H.; Lacey, Jean M.; Netzel, Brian C.; Singh, Ravinder J.; Matern, Dietrich

doi:10.1159/000315910

Cited by 19 publications

(8 citation statements)

References 42 publications

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“…Salivary cortisol can be collected in a painless way and offers a measure of bioactive free hormone [96]. Dried blood spots have also been assessed as a means of 24 h steroid profiling using liquid chromatography tandem mass spectrometry [97]. However, different monitoring strategies have not been compared in clinical studies and no evidence base exists therefore in relation to outcomes.…”

Section: Monitoring Of Treatmentmentioning

confidence: 99%

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

Webb

Krone

2015

Best Practice & Research Clinical Endocrinology & Metab

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Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive conditions leading to glucocorticoid deficiency. CAH is the most common cause of adrenal insufficiency (AI) in the paediatric population. The majority of the other forms of primary and secondary adrenal insufficiency are rare conditions. It is critical to establish the underlying aetiology of each specific condition as a wide range of additional health problems specific to the underlying disorder can be found. Following the introduction of life-saving glucocorticoid replacement sixty years ago, steroid hormone replacement regimes have been refined leading to significant reductions in glucocorticoid doses over the last two decades. These adjustments are made with the aim both of improving the current management of children and young persons and of reducing future health problems in adult life. However despite optimisation of existing glucocorticoid replacement regimens fail to mimic the physiologic circadian rhythm of glucocorticoid secretion, current efforts therefore focus on optimising replacement strategies. In addition, in recent years novel experimental therapies have been developed which target adrenal sex steroid synthesis in patients with CAH aiming to reduce co-morbidities associated with sex steroid excess. These developments will hopefully improve the health status and long-term outcomes in patients with congenital adrenal hyperplasia and adrenal insufficiency.

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Section: Monitoring Of Treatmentmentioning

confidence: 99%

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

Webb

Krone

2015

Best Practice & Research Clinical Endocrinology & Metab

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“…As well, dried blood spots were used to study steroid profiling with liquid chromatography-tandem mass spectrometry in patients with CAH, as an alternate source to serum [27]. There was an excellent correlation between the dried blood spots and serum testing, leaving open the possibility of utilizing this methodology in clinical care in the future.…”

Section: Introductionmentioning

confidence: 99%

Management of congenital adrenal hyperplasia in childhood

Kim

Ryabets-Lienhard

Geffner

2012

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of review Congenital adrenal hyperplasia (CAH) can present management challenges to the pediatric clinician. Glucocorticoid replacement remains the cornerstone of treatment; however, there are new formulations and delivery mechanisms being studied. Clinicians continue to discuss the optimal treatment of patients from the prenatal stage, through infancy to adulthood. As well, the role of genetics in the clinical care of patients with CAH, and screening for complications, remain topics of discussion. This review will highlight advances made in the past year, as they pertain to the management of pediatric patients with CAH. Recent findings This article covers recent studies pertaining to optimal medication regimens, including prenatal dexamethasone treatment; medication delivery; monitoring of hormonal control; and the role of genotyping and genetics in the management of children with CAH. Summary Much remains to be learned about the optimal management of children with CAH, including fludrocortisone replacement in simple-virilizing patients, frequency of and specific monitoring strategies (e.g., electrolytes, bone age, etc.), catecholamine status, stress-dosing in non-classical adrenal hyperplasia, and early screening for complications or metabolic sequelae. Further randomized, prospective studies are needed to address these issues.

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“…Sarafoglou et al (18) already applied the LC-MS/MS method for the determination of 17-OHP in dried blood and Shibayama et al (19) used that method for saliva samples. The analysis of saliva cannot be used for all age groups (9,20).…”

Section: Discussionmentioning

confidence: 99%

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

Wieacker

Peter

Borucki

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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Careful monitoring of the therapy is crucial for patients with congenital adrenal hyperplasia (CAH) in order to prevent the effects of increased androgen production as well as life-threatening salt-wasting crisis. The key metabolite, 17α-hydroxyprogesterone (17-OHP) can be detected in serum, saliva or dried blood. In clinical practice there are challenges due to discomfort of venous blood sampling and complicated retrieval of saliva during infancy. Furthermore, the immunoassay method is limited in its specificity due to cross-reactions. In this observational study we prospectively examined over a period of 5 years, 20 patients with CAH due to 21-hydroxylase deficiency using standard immunoassays for serum samples (radioimmunoassay and enzyme immunoassay) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spots. Bland-Altman plots show goodness of agreement between both the methods for the desirable therapeutic concentration range of 17-OHP. LC-MS/MS is characterized by a high accuracy in the therapeutic concentration range of 17-OHP <100 nmol/L (r=0.91). Dried blood samples are convenient and reliable specimen for 17-OHP measured by LC-MS/MS. This method could be used for home monitoring of hydrocortisone replacement therapy both in salt-waster and simple virilizer CAH.

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Comparison of Multiple Steroid Concentrations in Serum and Dried Blood Spots throughout the Day of Patients with Congenital Adrenal Hyperplasia

Cited by 19 publications

References 42 publications

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

Management of congenital adrenal hyperplasia in childhood

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

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