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

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.

European journal of endocrinology - 1 Aug 2011

Ghizzoni Lucia, Cappa Marco, Vottero Alessandra, Ubertini Graziamaria, Carta Daniela, Di Iorgi Natascia, Gasco Valentina, Marchesi Maddalena, Raggi Vera, Ibba Anastasia, Napoli Flavia, Massimi Arianna, Maghnie Mohamad, Loche Sandro, Porzio Ottavia

Abstract excerpt

OBJECTIVE: Premature pubarche (PP) is the most frequent sign of nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in childhood. The aim of this study was to assess the relationship between the CYP21A2 genotype and baseline and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) and cortisol serum levels in patients presenting with PP. PATIENTS AND METHODS: A total of 152 Italian...

Read the complete abstract on PubMed

Topics

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

Share to 17-alpha-Hydroxyprogesterone
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Hydrocortisone

Share to Infant

Share to Puberty, Precocious

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 21646284
DOI: 10.1530/EJE-11-0119

Genes

IPP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.PMID 21646284Read ↗

Genetic defects of the CYP21A2 gene in girls with premature adrenarche.Semantic proximity Read ↗

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.Semantic proximity Read ↗

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.Semantic proximity Read ↗

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.Semantic proximity Read ↗

Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.Semantic proximity Read ↗

Correlation between genotype and hormonal levels in heterozygous mutation carriers and non-carriers of 21-hydroxylase deficiency.Semantic 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 ↗

Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia.Semantic proximity Read ↗

Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH).Semantic proximity Read ↗

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.Semantic proximity Read ↗

Congenital adrenal hyperplasia: phenotype and genotype.Semantic proximity Read ↗

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.Semantic proximity Read ↗

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