21-hydroxylase deficiency with p.I173N//CYP21A1P/CYP21A2 chimeric gene genotype before and after neonatal screening introduction


Authors: D. Novotná 1;  H. Vinohradská 2;  Z. Hrubá 3
Authors‘ workplace: Pediatrická klinika FN Brno a LF MU, Brno 1;  Oddělení klinické biochemie FN Brno a LF MU, Brno 2;  Centrum molekulární biologie a genové terapie, Laboratoře Interní hematologické a onkologické kliniky FN Brno a LF MU, Brno 3
Published in: Čes-slov Pediat 2018; 73 (2): 95-99.
Category: Case Report

Věnováno významnému životnímu jubileu prof. MUDr. Lidky Lisé, DrSc.

Overview

The authors present case reports of three children suffering from 21-hydoxylase deficiency due to p.I173//CYP21A1P/CYP21A2 chimeric gene genotype. Case reports document the improvement of health and final height due to early diagnosis and treatment through neonatal screening and the phenotype variability of p.I173N mutation. Key words: 21-hydroxylase deficiency, neonatal screening, phenotype, puberty


Sources

1. Lebl J, Al Taji E, Koloušková S, et al. Dětská endokrinologie a diabetologie. Praha: Galén, 2015: 280–291. 2. de Carvalho DF, Miranda MC, Gomes LG, et al. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction Eur J Endocrinol 2016; 175: 107–116. 3. Procházková V, Lebl J, Hníková O, et al. Kinická diagnostika pacientů s kongenitální adrenální hyperplazií: Kam mizejí chlapci? Čes-slov Pediat 1999; 10: 544–547. 4. Speiser PW, Azziz R, Baslin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2010; 95 (9): 4133–4160. 5. Novotná D, Hrubá Z. Může být urychlení růstu příčinou malé výšky? Paediatric Endocrinology News 2016; 3: 25–27. 6. Güven A, Cebeci A, Hancili S. Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precoccious puberty. Hormones 2015; 14 (2): 265–271. 7. New MI, Abraham M, Gonzalez B, et al. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci USA 2013; 110 (7): 2611–2616. 8. Pearce M, DeMartino L, McMahon R, et al. Newborn screening for congenital adrenal hyperplasia in New York State. Mol Genet Metab Rep 2016; 7: 1–7. 9. Krone N, Dhir V, Ivison HE, et al. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol 2007; 66 (2): 162–172.

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