Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Frontera, Eric D.; Brown, Joshua; MBCHB, Hagop Ghareebian; Mariash, Cary N.

doi:10.1016/j.aace.2022.10.003

AACE Clinical Case Reports

2022

DOI: 10.1016/j.aace.2022.10.003

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Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Eric D. Frontera¹,

Joshua Brown²,

Hagop Ghareebian MBCHB³

et al.

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“… 7 In addition, a case with nonclassic congenital adrenal hyperplasia (NCCAH) presented in a patient with CYP21A2 and CYP11B1 heterozygous mutations, suggesting dual heterozygous mutations and adding to the database of described mutations in NCCAH. 8 Lastly, under image vignettes, a case of growth hormone producing pituitary adenoma was described. 9 …”

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2022

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Jasim¹

2022

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Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

Bertolucci,

Tyutyusheva,

Sepich

et al. 2023

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Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21-hydroxylase (21-OH) enzyme. CAH can present as classical form (simple virilizing or salt wasting) or as non-classical form (NC-CAH). NC-CAH is due to pathogenetic variants in the CYP21A2 gene that result in 20–70% residual activity of 21-hydroxylase. Early diagnosis may be missed, mainly in childhood, jeopardizing long-term outcome. This paper will review some information on clinical findings, symptoms, diagnostic approaches, and treatments of NC-CAH in childhood, allowing better management and long-term outcome.

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Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

Cited by 2 publications

References 22 publications

Editorial for November/December Issue of AACE Clinical Case Reports

Editorial for November/December Issue of AACE Clinical Case Reports

Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

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