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Endocrine Abstracts

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ea0032p19 | Adrenal cortex | ECE2013

Genetic analysis does not confirm NCCAH in almost half of the women who had received this diagnosis: preliminary results of an audit

Alcantara Valeria , Tundidor Diana , Webb Susan , Carreras Gemma , Espinos Juan Jose , Chico Ana Isabel , Martinez Silvia , Blanco Francisco , Corcoy Rosa

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases. Genetic analysis performed for genetic counselling revealed a miscorrelation with the clinical diagnosis in several patients at our centre.Aim: Confirm the genetic diagnosis of NCCAH in women attended for this condition.Materials and methods: Consecutive patients attended at o...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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