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Article

Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.

Hormone research in paediatrics - 1 Jan 2026

Lind-Holst Marie, Berglund Agnethe, Duno Morten, Hvistendahl Gitte, Fossum Magdalena, Juul Anders, Jørgensen Niels, Main Katharina M, Gravholt Claus H, Hansen Dorte

Abstract excerpt

INTRODUCTION: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aimed to describe genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood. METHODS: A nationwide retrospective cohort study of patients diagnosed with CAH, at the age of ≤18 years, between 1943 and 2018. CAH was identified in national...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 39536731
DOI: 10.1159/000541775

Genes

CYP21A2

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