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Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening.
Clin Genet. 2012 Jul; 82(1):64-70.CG

Abstract

Newborn screening (NBS) identifies the majority of classical [salt-wasting (SW) and simple-virilizing (SV)] cases of congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase (21α-OHase) during the first days of life. Diagnosis of classical CAH is confirmed by follow-up serum 17-hydroxyprogesterone and/or the adrenocorticotropin stimulation test; however, neither test definitively distinguishes between the classical subtypes. After confirmation, all newborns are started on hydrocortisone (glucocorticoid) and fludrocortisone (mineralocorticoid) treatment. While initiating fludrocortisone treatment in classical CAH patients, independent of subtype and before SW signs or symptoms occur, prevents a life-threatening SW crisis, it may later complicate distinguishing between the classical subtypes. Genotype-phenotype correlations in 21α-OHase deficiency are excellent; however, molecular testing is not a regular part of the diagnostic workup. Molecular testing on 39 patients (25 identified by NBS) with an already established diagnosis of CAH identified 11 SW patients (8 identified by NBS) whose mutations suggested further biochemical and clinical reassessment of their subtype. Overall, SW accounted for 57.6% of our classical CAH patients, below the generally accepted figure that >75% of classical CAH are comprised of the SW form. In the era of NBS, molecular testing is a valuable supplemental tool identifying patients who may benefit from reassessment of their salt-retaining ability.

Authors+Show Affiliations

Department of Pediatrics, University of Minnesota, 516 Delaware Street SE, Minneapolis, MN 55455, USA. saraf010@umn.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

21534945

Citation

Sarafoglou, K, et al. "Molecular Testing in Congenital Adrenal Hyperplasia Due to 21α-hydroxylase Deficiency in the Era of Newborn Screening." Clinical Genetics, vol. 82, no. 1, 2012, pp. 64-70.
Sarafoglou K, Lorentz CP, Otten N, et al. Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening. Clin Genet. 2012;82(1):64-70.
Sarafoglou, K., Lorentz, C. P., Otten, N., Oetting, W. S., & Grebe, S. K. (2012). Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening. Clinical Genetics, 82(1), 64-70. https://doi.org/10.1111/j.1399-0004.2011.01694.x
Sarafoglou K, et al. Molecular Testing in Congenital Adrenal Hyperplasia Due to 21α-hydroxylase Deficiency in the Era of Newborn Screening. Clin Genet. 2012;82(1):64-70. PubMed PMID: 21534945.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening. AU - Sarafoglou,K, AU - Lorentz,C P, AU - Otten,N, AU - Oetting,W S, AU - Grebe,S K G, Y1 - 2011/06/03/ PY - 2011/5/4/entrez PY - 2011/5/4/pubmed PY - 2013/3/9/medline SP - 64 EP - 70 JF - Clinical genetics JO - Clin Genet VL - 82 IS - 1 N2 - Newborn screening (NBS) identifies the majority of classical [salt-wasting (SW) and simple-virilizing (SV)] cases of congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase (21α-OHase) during the first days of life. Diagnosis of classical CAH is confirmed by follow-up serum 17-hydroxyprogesterone and/or the adrenocorticotropin stimulation test; however, neither test definitively distinguishes between the classical subtypes. After confirmation, all newborns are started on hydrocortisone (glucocorticoid) and fludrocortisone (mineralocorticoid) treatment. While initiating fludrocortisone treatment in classical CAH patients, independent of subtype and before SW signs or symptoms occur, prevents a life-threatening SW crisis, it may later complicate distinguishing between the classical subtypes. Genotype-phenotype correlations in 21α-OHase deficiency are excellent; however, molecular testing is not a regular part of the diagnostic workup. Molecular testing on 39 patients (25 identified by NBS) with an already established diagnosis of CAH identified 11 SW patients (8 identified by NBS) whose mutations suggested further biochemical and clinical reassessment of their subtype. Overall, SW accounted for 57.6% of our classical CAH patients, below the generally accepted figure that >75% of classical CAH are comprised of the SW form. In the era of NBS, molecular testing is a valuable supplemental tool identifying patients who may benefit from reassessment of their salt-retaining ability. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/21534945/Molecular_testing_in_congenital_adrenal_hyperplasia_due_to_21α_hydroxylase_deficiency_in_the_era_of_newborn_screening_ L2 - https://doi.org/10.1111/j.1399-0004.2011.01694.x DB - PRIME DP - Unbound Medicine ER -