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

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.

Frontiers in endocrinology - 1 Jan 2023

Dumic Katja K, Grubic Zorana, Kusec Vesna, Braovac Duje, Gotovac Kristina, Vinkovic Maja, Vucinic Maja, Dumic Miroslav

Abstract excerpt

Objective: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene. After a high prevalence of classic 21-OHD CAH in the Romani population was reported in the Republic of North Macedonia, we decided to estimate the prevalence of 21-OHD in Croatia and, if high, assess the possible causes and estimate...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Croatia

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

Share to Cross-Sectional Studies

Share to Genotype

Share to Prevalence

Share to Steroid 21-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 37324261
DOI: 10.3389/fendo.2023.1170449
PMCID: PMC10266231

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

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.PMID 37324261Read ↗

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 ↗

21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.Semantic proximity Read ↗

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

First insights into the genetics of 21-hydroxylase deficiency in the Roma population.Semantic proximity Read ↗

Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.Semantic proximity Read ↗

Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.Semantic proximity Read ↗

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.Semantic proximity Read ↗

CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.Semantic proximity Read ↗

Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).Semantic proximity Read ↗

Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia.Semantic proximity Read ↗

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