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

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

The Journal of clinical endocrinology and metabolism - 1 Sept 1998

Nordenskjöld A, Ivarsson S A

Abstract excerpt

The molecular background of 5 alpha-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and in which the affected males were fertile. The three male siblings were born with ambiguous external genitalia, and the diagnosis of 5 alpha-reductase deficiency was established at the ages of 16, 14, and 10 yr, respectively. All three siblings underwent surgery for hypospadias...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Phenotype

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 9745434
DOI: 10.1210/jcem.83.9.5125

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.PMID 9745434Read ↗

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.Semantic proximity Read ↗

Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.Semantic proximity Read ↗

A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.Semantic proximity Read ↗

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

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.Semantic proximity Read ↗

Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.Semantic proximity Read ↗

<i>SRD5A2</i> gene analysis in an Italian population of under‐masculinized 46,XY subjectsSemantic 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 ↗

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

Steroid 5 alpha-reductase 2 deficiency.Semantic proximity Read ↗

Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.Semantic proximity Read ↗

Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme.Semantic proximity Read ↗

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