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

A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.

Journal of pediatric and adolescent gynecology - 1 Apr 2014

Sıklar Zeynep, Berberoğlu Merih, Ceylaner Serdar, Çamtosun Emine, Kocaay Pınar, Göllü Gülnur, Sertçelik Ayşe, Öcal Gönül

Abstract excerpt

BACKGROUND: Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Gender Identity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Gonadal Dysgenesis, 46,XY

Share to Heterozygote

Share to Mutation

Share to Steroidogenic Factor 1

Share to Virilism

Source

Identifiers

PMID: 24231572
DOI: 10.1016/j.jpag.2013.06.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.PMID 24231572Read ↗

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.Semantic proximity Read ↗

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.Semantic proximity Read ↗

Pubertal development in 46,XY patients with NR5A1 mutations.Semantic proximity Read ↗

[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].Semantic proximity Read ↗

Heterozygous Mutation of Steroidogenic Factor-1 in 46,XY Subjects May Mimic Partial Androgen Insensitivity SyndromeSemantic proximity Read ↗

Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.Semantic proximity Read ↗

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.Semantic proximity Read ↗

A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.Semantic proximity Read ↗

A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.Semantic proximity Read ↗

Clinical follow-up of the first SF-1 insufficient female patient.Semantic proximity Read ↗

The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocolSemantic proximity Read ↗

Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.Semantic proximity Read ↗

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