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

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

European journal of endocrinology - 1 May 2014

Tantawy Sally, Mazen Inas, Soliman Hala, Anwar Ghada, Atef Abeer, El-Gammal Mona, El-Kotoury Ahmed, Mekkawy Mona, Torky Ahmad, Rudolf Agnes, Schrumpf Pamela, Grüters Annette, Krude Heiko, Dumargne Marie-Charlotte, Astudillo Rebekka, Bashamboo Anu, Biebermann Heike, Köhler Birgit

Abstract excerpt

OBJECTIVE: Steroidogenic factor 1 (SF1, NR5A1) is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-gonadal axis. Recently, SF1 mutations were found to be a frequent cause of 46,XY disorders of sex development (DSD) in humans. We investigate the frequency of NR5A1 mutations in an Egyptian cohort of XY DSD. DESIGN: Clinical assessment, endocrine evaluation and genetic analysis of 50...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorder of Sex Development, 46,XY

Share to Hypospadias

Share to Mutation, Missense

Share to Recombinant Proteins

Share to Steroidogenic Factor 1

Source

Identifiers

PMID: 24591553
DOI: 10.1530/EJE-13-0965

Genes

AMH

Variants

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

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.PMID 24591553Read ↗

Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.Semantic proximity Read ↗

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.Semantic proximity Read ↗

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.Semantic proximity Read ↗

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.Semantic proximity Read ↗

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.Semantic proximity Read ↗

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.Semantic proximity Read ↗

Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.Semantic proximity Read ↗

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.Semantic proximity Read ↗

Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal FunctionSemantic proximity Read ↗

Update--steroidogenic factor 1 (SF-1, NR5A1).Semantic proximity Read ↗

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Semantic proximity Read ↗

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.Semantic proximity Read ↗

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