[Late diagnoses of 21-hydroxylase deficiencies in children (after the age of 3 years].

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Article

[Late diagnoses of 21-hydroxylase deficiencies in children (after the age of 3 years].

Annales de pediatrie - 1 Sept 1993

Carel J C, Marrakchi Z, Roger M, Morel Y, Chaussain J L

Abstract excerpt

To evaluate the heterogeneity of 21-hydroxylase deficiency with delayed symptoms, clinical and laboratory findings at presentation in 29 patients whose first symptoms occurred after three years of age were analyzed retrospectively. In 12 patients, these data were confronted with the results of mo...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Age Determination by Skeleton
Alleles
Blotting, Southern
Child
Cosyntropin
Female
Genetic Carrier Screening
Genetic Counseling
Humans
Hydroxyprogesterones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Polymerase Chain Reaction

Puberty, Precocious

Retrospective Studies

Severity of Illness Index

Source

Open in PubMed

Identifiers

PMID: 8239392

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8239392-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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