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

Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 May 2010

Paris Françoise, Tardy Véronique, Chalançon Anne, Picot Marie Christine, Morel Yves, Sultan Charles

Abstract excerpt

AIM: This study investigated the prevalence and consequences of heterozygous CYP21A2 mutations in premature pubarche (PP) girls. MAIN FINDING: We investigated 36 French Mediterranean girls with isolated PP. We performed synacthen testing with 17OHP and 21-deoxycortisol evaluation, along with molecular analysis of the CYP21A2 gene in girls with abnormal elevation of one of these two adrenal steroids. Three girls...

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 Dehydroepiandrosterone Sulfate

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

Share to France

Share to Hyperandrogenism

Share to Mediterranean Region

Share to Puberty, Precocious

Share to Steroid 21-Hydroxylase

Share to Testosterone

Source

Identifiers

PMID: 20059433
DOI: 10.3109/09513590903511505

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

Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers.PMID 20059433Read ↗

Molecular defects of the CYP21 gene in Spanish girls with isolated precocious pubarche.Semantic proximity Read ↗

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

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

[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings].Semantic proximity Read ↗

Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.Semantic proximity Read ↗

Hyperandrogenism in carriers of CYP21 mutations: the role of genotype.Semantic proximity Read ↗

Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.Semantic proximity Read ↗

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

High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche.Semantic proximity Read ↗

Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.Semantic proximity Read ↗

High carrier frequency of 21-hydroxylase deficiency in Cyprus.Semantic proximity Read ↗

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