@article{3078bfb7babd4fccbda5a83b62a3fc70,
title = "Are current cut-off values of 11-DOC in children useful for assessing suspected nonclassical congenital adrenal hyperplasia due to 11β-hydroxylase deficiency?",
abstract = "Objective: A nonclassic form of 11β-hydroxylase deficiency (NC11β-OHD) has been reported to cause mild androgen excess symptoms. Currently, the gold standard for biochemical diagnosis is elevated 11-deoxycortisol (11-DOC) levels after corticotropin stimulation test (ACTHstimT). However, there are no clear 11-DOC level cutoffs. One of the accepted references for 11-DOC levels for the paediatric population was published in 1991 by Lashansky et al. Aim: To determine the correlation between 11-DOC levels measured during ACTHstimT and clinical symptoms attributed to NC11β-OHD. Design: A retrospective study including all paediatric patients who underwent ACTHstimT at Shamir Medical Center between 2007 and 2015. Clinical data were collected from the patients{\textquoteright} medical files. Outcome measures included the number of patients with hyperandrogenism signs and predefined elevated 11-DOC cut-off levels according to Lashansky for sex and age, and according to commercial kit cut-offs. Results: Data were complete at presentation for 136 patients. Long-term clinical data were documented for 98 patients, mean follow-up duration of 3.1 years (1.37–5.09). There was no statistically significant difference in the number of cases with elevated 11-DOC according to both cut-offs and early puberty, premature adrenarche nor acne. Follow-up data demonstrated no statistically significant difference in the number of cases with elevated 11-DOC levels among patients with compromised final adult height, polycystic ovarian syndrome or hyperandrogenism. Conclusions: Basal and corticotropin stimulated 11-DOC levels were not significantly elevated above the 1.5 times cut-offs according to paediatric-specific norms or the commercial assay in paediatric individuals with possible clinical suspicion of NC11β-OHD.",
keywords = "11-deoxycortisol, 11β hydroxylase deficiency, congenital adrenal hyperplasia, hyperandrogenism",
author = "Galia Barash and Lior Drach and Larisa Naugolni and Tamar Yacoel and Tzvi Bistritzer and Marianna Rachmiel",
note = "Publisher Copyright: {\textcopyright} 2021 John Wiley & Sons Ltd.",
year = "2022",
month = mar,
doi = "10.1111/cen.14597",
language = "אנגלית",
volume = "96",
pages = "302--310",
journal = "Clinical Endocrinology",
issn = "0300-0664",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "3",
}