Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management

1 Jun 2003

Abstract excerpt

The phenotype of congenital adrenal hyperplasia (CAH) varies greatly. The purpose of this study was to optimize diagnosis and follow-up by comparing phenotype with genotype. Sixty-eight patients with CAH due to 21-hydroxylase deficiency were studied by clinical, hormonal, and molecular genetic methods. Patients were classified according to predicted mutation severity: group 0, null mutation (17.6%); group A,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Sexual Differentiation and Disorders
Share to Urologic and reproductive health conditions
Share to Urological Disorders and Treatments

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

Source

Identifiers

PMID: 12788866
DOI: 10.1210/jc.2002-021433

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for ManagementPMID 12788866Read ↗

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence.Semantic proximity Read ↗

Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiencySemantic proximity Read ↗

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.Semantic proximity Read ↗

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.Semantic proximity Read ↗

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.Semantic proximity Read ↗

21-hydroxylase deficiency congenital adrenal hyperplasia.Semantic proximity Read ↗

Molecular genetics of congenital adrenal hyperplasia (21‐hydroxylase deficiency): implications for diagnosis, prognosis and treatmentSemantic proximity Read ↗

Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening.Semantic proximity Read ↗

Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.Semantic proximity Read ↗

Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.Semantic proximity Read ↗

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Semantic proximity Read ↗

Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern GermanySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.