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Congenital adrenal hyperplasia

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

J Pediatr Endocrinol Metab. 2017 Jun 23;:

Authors: Savaş-Erdeve Ş, Çetinkaya S, Abalı ZY, Poyrazoğlu Ş, Baş F, Berberoğlu M, Sıklar Z, Korkmaz Ö, Buluş D, Akbaş ED, Güran T, Böber E, Akın O, Yılmaz GC, Aycan Z

Abstract
BACKGROUND: 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 the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height.
CONCLUSIONS: 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.

PMID: 28693119 [PubMed - as supplied by publisher]

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