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Article

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.

Medicina - 1 Jan 2007

Pasqualini Titania, Alonso Guillermo, Tomasini Rosangela, Galich Ana Maria, Buzzalino Noemi, Fernandez Cecilia, Minutolo Carolina, Alba Liliana, Dain Liliana

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW), with residual enzymatic activity (EA) < or = 1% and simple virilizing (SV), with EA 1-2%- and a mild late onset or nonclassical (...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Alleles
Child
Child, Preschool
Female
Follow-Up Studies
Gene Conversion
Genotype
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Phenotype

Point Mutation

Steroid 21-Hydroxylase

Source

Identifiers

PMID: 17628913

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-17628913-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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