EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

July 2020 in “ European Journal of Human Genetics ”

Sabina Baumgartner‐Parzer, Martina Witsch‐Baumgartner, Wolfgang Hoeppner

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The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis

research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis

25 citations , September 2015 in “Clinical Endocrinology”

Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.

research Phenotypic Profiling of Parents With Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families

62 citations , March 2011 in “European journal of endocrinology”

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.