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

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].

Arquivos brasileiros de endocrinologia e metabologia - 1 Feb 2005

Hackel Christine, Oliveira Luiz Eduardo C de, Toralles Maria Betania, Nunes-Silva Daniela, Tonini Maria Manuela O, Ferraz Lúcio Fábio Caldas, Steinmetz Leandra, Damiani Durval, Oliveira Laurione Cândido de, Maciel-Guerra Andréa T, Stuchi-Perez Eliana Gabas, Guerra-Júnior Gil

Abstract excerpt

OBJECTIVE: To report the experience regarding patients with steroid 5alpha-reductase type 2 deficiency from three different clinical services in Brazil. CASUISTIC AND METHODS: Twenty five patients with clinical and hormonal features of 5alpha-reductase deficiency from 23 families (15 from Bahia, 7 from São Paulo and 1 from Minas Gerais) were included in this study. Clinical, hormonal and molecular data were...

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 Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brazil

Share to Child, Preschool

Share to Disorders of Sex Development

Share to Infant

Share to Infant, Newborn

Source

Identifiers

PMID: 16544041
DOI: 10.1590/s0004-27302005000100014

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

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].PMID 16544041Read ↗

Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report.Semantic proximity Read ↗

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.Semantic proximity Read ↗

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.Semantic proximity Read ↗

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

[Steroid 5alpha-reductase deficiency].Semantic proximity Read ↗

[Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 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 ↗

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

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

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

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α‐reductase 2 deficiencySemantic proximity Read ↗

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