Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height

Author:

Savaş-Erdeve Şenay,Çetinkaya Semra,Abalı Zehra Yavaş,Poyrazoğlu Şükran,Baş Firdevs,Berberoğlu Merih,Sıklar Zeynep,Korkmaz Özlem,Buluş Derya,Akbaş Emine Demet,Güran Tülay,Böber Ece,Akın Onur,Yılmaz Gülay Can,Aycan Zehra

Abstract

AbstractBackground:The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed.Methods:This multicenter, nationwide web-based study collected data.Results:The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 μg/dL in three (15.45%) patients. A mutation was detected in theConclusions:The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

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