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Article

Genetic defects of the CYP21A2 gene in girls with premature adrenarche.

Journal of endocrinological investigation - 1 May 2015

Skordis N, Shammas C, Phedonos A A P, Kyriakou A, Toumba M, Neocleous V, Phylactou L A

Abstract excerpt

OBJECTIVES: To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA). METHODS: The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene. RESULTS: Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on stimulated...

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Share to Adolescent
Share to Adrenal Hyperplasia, Congenital
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperandrogenism

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Share to Polymorphism, Genetic

Share to Puberty, Precocious

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 25481255
DOI: 10.1007/s40618-014-0223-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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