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

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2016

Bertelloni Silvano, Baldinotti Fulvia, Russo Gianni, Ghirri Paolo, Dati Eleonora, Michelucci Angela, Moscuzza Francesca, Meroni Silvia, Colombo Ilaria, Sessa Maria R, Baroncelli Giampiero I

Abstract excerpt

Clinical records (n = 24) with an established diagnosis of 5α-reductase-2 deficiency were reviewed. A previous misdiagnosis was present in about 70% (period from first observation to definitive diagnosis: 9.1 ± 10.8 years), and in 8 children gonadal removal was performed before certain diagnosis. Initial sex assignment was female in 16/24 (67%) and male in 8/24 (33%) cases. After diagnosis, sex re-assignment was...

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 Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dihydrotestosterone

Share to Disorders of Sex Development

Share to Genetic Association Studies

Share to Infant

Share to Testosterone

Source

Identifiers

PMID: 27070133
DOI: 10.1159/000445090

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.PMID 27070133Read ↗

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

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

Molecular Characterization of 6 Unrelated Italian Patients With 5α‐Reductase Type 2 DeficiencySemantic proximity Read ↗

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

5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.Semantic proximity Read ↗

The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.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 ↗

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.Semantic proximity Read ↗

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

DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome.Semantic proximity Read ↗

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.Semantic proximity Read ↗

Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.Semantic proximity Read ↗

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