Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Author:

Concolino PaolaORCID,Perrucci Alessia,Carrozza Cinzia,Urbani Andrea

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Reference42 articles.

1. Speiser PW, Ng P, Sinaii N, Leschek EW, Green-Golan L, VanRyzin C, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2018;103:4043–88.

2. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017;17:31431–9.

3. Falhammar H, Thorén M. Clinical outcomes in the management of congenital adrenal hyperplasia. Endocrine. 2012;41:355–73.

4. Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, et al. Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics and management. Endocr Rev. 2021;7:bnab016.

5. Witchel SF, Azziz R. Nonclassic congenital adrenal hyperplasia. Int J Pediatr Endocrinol. 2010;2010: 625105.

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