Therapy monitoring in congenital adrenal hyperplasia by dried blood samples
Abstract
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.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Steroids can be measured in blood, urine, saliva and dried filter-paper blood samples and fluctuate with both the circadian rhythm and the timing of glucocorticoid intake.
“Steroids can be measured in blood, urine (268,305), saliva (388) and dried filter-paper blood samples (389,390) and fluctuate with both the circadian rhythm and the timing of glucocorticoid intake (298,391-393).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [388]
Cites
Measuring agreement in method comparison studies
Bland, J. M., & Altman, D. G. (1999) · Statistical Methods in Medical Research · doi:10.1191/096228099673819272 · Cited by 9,619 · see citing works
Measuring agreement in method comparison studies
Bland, J. M., & Altman, D. G. (1999) · Statistical Methods in Medical Research · doi:10.1177/096228029900800204 · Cited by 9,619 · see citing works
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,409 · see citing works
PANG, S., HOTCHKISS, J., DRASH, A. L., LEVINE, L. S., & NEW, M. I. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-45-5-1003 · Cited by 293 · see citing works
Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., & Sander, J. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2890 · Cited by 211 · see citing works
Self-citationMinutti, C. Z., Lacey, J. M., Magera, M. J., Hahn, S. H., McCann, M., Schulze, A., Cheillan, D., Dorche, C., Chace, D. H., Lymp, J. F., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032235 · Cited by 154 · see citing works
Bonfig, W., Dalla Pozza, S. B., Schmidt, H., Pagel, P., Knorr, D., & Schwarz, H. P. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0942 · Cited by 136 · see citing works
Approach to the Adult with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Merke, D. P. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2417 · Cited by 128 · see citing works
Management of the child with congenital adrenal hyperplasia
Hindmarsh, P. C. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.010 · Cited by 106 · see citing works
Steroid measurement with LC–MS/MS. Application examples in pediatrics
Rauh, M. (2009) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2009.12.007 · Cited by 105 · see citing works
Schwarz, E., Liu, A., Randall, H., Haslip, C., Keune, F., Murray, M., Longo, N., & Pasquali, M. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e3181aa3777 · Cited by 97 · see citing works
Rossi, C., Calton, L. J., Hammond, G., Brown, H. A., Wallace, A. M., Sacchetta, P., & Morris, M. R. (2009) · Clinica Chimica Acta · doi:10.1016/j.cca.2009.11.007 · Cited by 79 · see citing works
Monitoring of Therapy in Congenital Adrenal Hyperplasia
Dauber, A. N., Kellogg, M. D., & Majzoub, J. A. (2010) · Clinical Chemistry · doi:10.1373/clinchem.2010.146035 · Cited by 72 · see citing works
Janzen, N., Sander, S., Terhardt, M., Steuerwald, U., Peter, M., Das, A. M., & Sander, J. (2011) · Steroids · doi:10.1016/j.steroids.2011.07.013 · Cited by 66 · see citing works
Self-citationBode, H. H., Rivkees, S. A., Cowley, D. M., Pardy, K., & Johnson, S. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70413-0 · Cited by 47 · see citing works
170H-progesterone rhythms in congenital adrenal hyperplasia.
Young, M. C., Robinson, J., Read, G. F., Riad-Fahmy, D., & Hughes, I. A. (1988) · Archives of Disease in Childhood · doi:10.1136/adc.63.6.617 · Cited by 47 · see citing works
SHIBAYAMA, Y., Higashi, T., Shimada, K., Kashimada, K., ONISHI, T., Ono, M., Miyai, K., & MIZUTANI, S. (2008) · Journal of Chromatography B · doi:10.1016/j.jchromb.2008.03.009 · Cited by 43 · see citing works
Recent Advances in 21-Hydroxylase Deficiency
New, M. I., & Levine, L. S. (1984) · Annual Review of Medicine · doi:10.1146/annurev.me.35.020184.003245 · Cited by 41 · see citing works
Congenital Adrenal Hyperplasia: Diagnosis, Evaluation, and Management
Antal, Z., & Zhou, P. (2009) · Pediatrics in Review · doi:10.1542/pir.30-7-e49 · Cited by 36 · see citing works
An update to 21-hydroxylase deficient congenital adrenal hyperplasia
Trakakis, E., Basios, G., Trompoukis, P., Labos, G., Grammatikakis, I., & Kassanos, D. P. (2009) · Gynecological Endocrinology · doi:10.3109/09513590903015494 · Cited by 33 · see citing works
Riordan, F. A. I., Wakelin, K., Wood, P. J., Betts, P. R., & Clayton, B. E. (1984) · The Lancet · doi:10.1016/s0140-6736(84)92223-2 · Cited by 32 · see citing works
Sarafoglou, K., Himes, J. H., Lacey, J. M., Netzel, B. C., Singh, R. J., & Matern, D. (2010) · Hormone Research in Paediatrics · doi:10.1159/000315910 · Cited by 21 · see citing works
Sólyom, J. (1981) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1981.tb02964.x · Cited by 21 · see citing works
Hughes, I. A., Dyas, J., Robinson, J., WALKER, R. F., & Fahmy, D. R. (1985) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1985.tb14604.x · Cited by 21 · see citing works
Shimon, I., Kaiserman, I., & Sack, J. (2008) · Hormone Research · doi:10.1159/000184636 · Cited by 20 · see citing works
Hubl, W., Fehér, T. D., Rohde, W., Dörner, G., Taubert, H., & Freymann, E. (1982) · PubMed · Cited by 18 · see citing works
Robinson, J., Dyas, J., Hughes, I. A., & Riad-Fahmy, D. (1987) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/000456328702400109 · Cited by 13 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234 · see citing works
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Nordenström, A., & Falhammar, H. (2019) · European Journal of Endocrinology · doi:10.1530/eje-18-0712 · Cited by 158 · see citing works
Current and Novel Treatment Strategies in Children with Congenital Adrenal Hyperplasia
Nordenström, A., Falhammar, H., & Lajić, S. (2022) · Hormone Research in Paediatrics · doi:10.1159/000522260 · Cited by 35 · see citing works
Long‐term health consequences of congenital adrenal hyperplasia
Pofi, R., Ji, X., Krone, N. P., & Tomlinson, J. (2023) · Clinical Endocrinology · doi:10.1111/cen.14967 · Cited by 24 · see citing works
Biomarkers in congenital adrenal hyperplasia
Bacila, I. A., Lawrence, N., Badrinath, S. G., Balagamage, C., & Krone, N. P. (2023) · Clinical Endocrinology · doi:10.1111/cen.14960 · Cited by 23 · see citing works
Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia
Birkebæk, N., HOUGAARD, D. M., & Cohen, A. S. (2016) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2016-0203 · Cited by 12 · see citing works
Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
Itonaga, T., & Hasegawa, Y. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1102741 · Cited by 10 · see citing works
Kendırcı, H. N. P., Ünal, E., Dündar, İ., Buluş, A. D., Güneş, S. O., & Şıklar, Z. (2024) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2024.2024-6-26-s · Cited by 7 · see citing works
Pediatric endocrine and metabolic diseases and proteomics
Kosteria, I., Kanaka‐Gantenbein, C., Anagnostopoulos, A. K., Chrousos, G. P., & Tsangaris, G. T. (2018) · Journal of Proteomics · doi:10.1016/j.jprot.2018.03.011 · Cited by 7 · see citing works
Alsulaimani, S., Mazi, A. A., Bawazier, M. A. S., Bahabri, A., Eibani, W., Batarfi, A., & Al-Agha, A. E. (2022) · Cureus · doi:10.7759/cureus.27762 · Cited by 3 · see citing works
Hasegawa, Y., Itonaga, T., Ishii, T., Izawa, M., & Amano, N. (2024) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000001369 · Cited by 1 · see citing works
21-Hydroxylase Deficiency: Clinical and Biochemical Aspects
Nordenström, A., & Lajić, S. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.65208-x
21-Hydroxylase deficiency: Clinical and biochemical aspects
Nordenström, A., & Lajić, S. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00171-0
- Authors
- Wieacker, I., Peter, M., Borucki, K., Empting, S., Roehl, F.-W., & Mohnike, K.
- Affiliations
- Otto-von-Guericke-Universität Magdeburg (DE)
- Screening Laboratory Hannover, Ronnenberg, Germany
- Corresponding author
- Mohnike, Klaus
- Venue
- Journal of Pediatric Endocrinology and Metabolism
- Publisher
- Walter de Gruyter GmbH
- Published
- 2015-03-07
- Volume
- 28
- Issue
- 7-8
- Pages
- 867-871
- ISSN
- 0334-018X (ISSN-L)
- 2191-0251
- OpenAlex
- W2400582246
- Cited by
- 14
- References
- 26
- Citations by year
- 2024: 3 · 2023: 3 · 2022: 2 · 2021: 1 · 2018: 4 · 2016: 1
- FWCI
- 0.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Pediatric Endocrinology and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, 17-hydroxyprogesterone, dried blood spots, therapeutic drug monitoring, hydrocortisone replacement, salt-wasting crisis, LC-MS/MS, immunoassay comparison, home monitoring
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Child, Child, Preschool, Chromatography, Liquid, Female, Follow-Up Studies, Humans, Immunoassay, Infant, Male, Prognosis, Prospective Studies, Radioimmunoassay, 17-alpha-Hydroxyprogesterone, Tandem Mass Spectrometry, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
