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

5-Alpha Reductase Deficiency - An Uncommon Disorder of Sexual Development: A Case Study of Four Turkish Patients within a Family.

Current gene therapy - 1 Jan 2026

Ors Ali, Bereketoglu Muhammed Burak, Boz Asli, Akkus Gamze

Abstract excerpt

INTRODUCTION: 5-alpha reductase deficiency is an inherited autosomal recessive disorder that can present with severe masculinization defects and ambiguous genitalia. Up to more than 100 mutations have been reported, but phenotype and genotype associations have not been directly evidenced. Testosterone-to-dihydrotestosterone (T/DHT) ratio is a clinically diagnostic test, and the cut-off value is expected to be...

Read the complete abstract on PubMed

Topics

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

Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Dihydrotestosterone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorders of Sex Development

Share to Membrane Proteins

Share to Pedigree

Share to Sexual Development

Share to Testosterone

Share to Turkey

Source

Identifiers

PMID: 41102955
DOI: 10.2174/0115665232415806250922094852

Genes

SRD5A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

5-Alpha Reductase Deficiency - An Uncommon Disorder of Sexual Development: A Case Study of Four Turkish Patients within a Family.PMID 41102955Read ↗

The Molecular Basis of 5α-Reductase Type 2 Deficiency.Semantic proximity Read ↗

5-Alpha reductase deficiency: a 40-year retrospective review.Semantic proximity Read ↗

Diagnosis of 5alpha-reductase 2 deficiency: a local experience.Semantic proximity Read ↗

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.Semantic proximity Read ↗

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.Semantic proximity Read ↗

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.Semantic proximity Read ↗

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.Semantic proximity Read ↗

Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.Semantic proximity Read ↗

Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.Semantic proximity Read ↗

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.Semantic proximity Read ↗

[Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation].Semantic proximity Read ↗

Practical approach to steroid 5alpha-reductase type 2 deficiency.Semantic proximity Read ↗

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